| Cryptotia, Familial |
|
Cryptotia, Abnormality of the outer ear |
OMIM:123557 |
| Question Mark Ears, Isolated |
|
Hearing abnormality, Question mark ear |
OMIM:612798 |
| Ear Pits, Posterior Helical |
|
Posterior helix pit |
OMIM:128710 |
| Darwinian Tubercle Of Pinna |
|
Darwin tubercle of helix |
OMIM:124300 |
| Ear Without Helix |
|
Abnormal helix morphology |
OMIM:128800 |
| Cranial Nerves, Congenital Paresis Of |
|
Abnormal pinna morphology, Facial palsy |
OMIM:218100 |
| Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
| Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
| Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... |
OMIM:128980 |
| Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Fac... |
ORPHA:3232 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck |
OMIM:608681 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... |
OMIM:609813 |
| Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Brachycephaly, Broad jaw, Increased bone mineral density, Craniosynostosis, Thickened calvaria, H... |
ORPHA:178377 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... |
ORPHA:3216 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... |
OMIM:609129 |
| Kleeblattschaedel |
|
Cloverleaf skull, Elbow ankylosis, Proptosis, Craniosynostosis |
OMIM:148800 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Frontal bossing, Micrognathia, Dolichocephaly, Orbital craniosynostosis, Hypertelorism |
ORPHA:1538 |
| Delayed Membranous Cranial Ossification |
|
Frontal bossing, Hypertelorism, Decreased skull ossification, Prominent occiput |
ORPHA:3034 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses |
OMIM:601071 |
| Deafness-Hypogonadism Syndrome |
|
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... |
ORPHA:90646 |
| Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
| Deafness, X-Linked 2 |
|
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... |
OMIM:304400 |
| Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614173 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... |
OMIM:122600 |
| Dwarfism With Tall Vertebrae |
|
Increased vertebral height, Coxa vara |
OMIM:126950 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Long nose, Fused cervical vertebrae, Low hanging columella, Proximal/middle symphalangism of 5th ... |
OMIM:184460 |
| Scheuermann Disease |
|
Osteochondrosis, Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Craniofacial Microsomia 2 |
|
Microtia, Microtia, third degree, Microtia, second degree, Dermal sinus tract, Submucous cleft pa... |
OMIM:620444 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... |
OMIM:277300 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormality of the neck, Stillbirth, Abnormal hip bone morphology, Abnormality of th... |
ORPHA:294975 |
| Coxoauricular Syndrome |
|
Hearing impairment, Microtia, Hip dislocation |
OMIM:122780 |
| Craniosynostosis, Philadelphia Type |
|
Craniosynostosis |
ORPHA:1527 |
| Aurocephalosyndactyly |
|
Craniosynostosis |
OMIM:109050 |
| Hydrocephalus, Autosomal Dominant |
|
Sagittal craniosynostosis |
OMIM:123155 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... |
ORPHA:93351 |
| Craniosynostosis 7 |
|
Craniosynostosis |
OMIM:617439 |
| Craniosynostosis 5, Susceptibility To |
|
Craniosynostosis |
OMIM:615529 |
| Osebold-Remondini Syndrome |
|
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Hypoplasia of the radius, Tarsal synost... |
OMIM:112910 |
| Poland Syndrome |
|
Hypoplasia of deltoid muscle, Hemivertebrae, Short ribs, Unilateral oligodactyly, Sprengel anomal... |
OMIM:173800 |
| Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Craniosynostosis 3 |
|
Right unicoronal synostosis, Bicoronal synostosis, Left unicoronal synostosis, Dental malocclusio... |
OMIM:615314 |
| Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
| Hunter-Mcalpine Craniosynostosis Syndrome |
|
Craniosynostosis, Downturned corners of mouth, Narrow mouth |
OMIM:601379 |
| Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... |
OMIM:118005 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... |
ORPHA:3268 |
| Pseudoachondroplasia |
|
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of... |
ORPHA:750 |
| Microcephaly 6, Primary, Autosomal Recessive |
|
Microcephaly, Microtia, Bifid nasal tip |
OMIM:608393 |
| Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
|
Microtia |
OMIM:611863 |
| Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Conductive hea... |
OMIM:185800 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... |
OMIM:118651 |
| Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... |
OMIM:616515 |
| Hypophosphatasia, Childhood |
|
Proptosis, Carious teeth, Frontal bossing, Dolichocephaly, Premature loss of primary teeth, Crani... |
OMIM:241510 |
| Liebenberg Syndrome |
|
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... |
OMIM:186550 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl... |
OMIM:617719 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... |
ORPHA:93405 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Craniosynostosis, Hypertelorism, Proptosis |
OMIM:612247 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Secondary microcephaly, Short nose, Abnormal middle ear morphology, Abnormal antihelix morphology... |
ORPHA:79113 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Hyperconvex vertebral body endplates, Corner fracture of metaphysis, Pectus carinatum, Scoliosis,... |
OMIM:184255 |
| Leri-Weill Dyschondrosteosis |
|
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... |
OMIM:127300 |
| Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Joint contracture of the 5th finger, Microtia, Microcephaly, Conductive hearing impairment, Micro... |
OMIM:248910 |
| Lowry-Maclean Syndrome |
|
Craniosynostosis, Cleft palate, Delayed eruption of teeth |
OMIM:600252 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Miss... |
ORPHA:1797 |
| Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... |
OMIM:113100 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Lambdoidal craniosynostosis, Hypotelorism, Premature posterior fontanelle closure, Broad alveolar... |
OMIM:314320 |
| Pseudoachondroplasia |
|
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... |
OMIM:177170 |
| Acropectorovertebral Dysplasia |
|
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... |
OMIM:102510 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... |
OMIM:186000 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... |
OMIM:607778 |
| Chromosome 2Q35 Duplication Syndrome |
|
Sagittal craniosynostosis, Distal symphalangism of hands |
OMIM:185900 |
| Craniosynostosis 1 |
|
Turricephaly, Right unicoronal synostosis, Prominent occiput, Biparietal narrowing, Frontal bossi... |
OMIM:123100 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Overlapping fingers, Sandal gap, Short hallux, Scoliosis, Absent dorsal skin creases over affecte... |
OMIM:618167 |
| Symphalangism, Distal |
|
Craniosynostosis, Distal symphalangism of hands, Distal foot symphalangism |
OMIM:185700 |
| Radial Hemimelia |
|
Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali... |
ORPHA:93321 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Sc... |
ORPHA:968 |
| Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Craniosynostosis |
ORPHA:2866 |
| Craniosynostosis 2 |
|
Brachycephaly, Supernumerary tooth, Turricephaly, Hypotelorism, Unicoronal synostosis, Cleft soft... |
OMIM:604757 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
| Trigonocephaly 2 |
|
Trigonocephaly, Metopic synostosis, Hypertelorism, Wide nasal bridge |
OMIM:614485 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... |
OMIM:174500 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Hypotelorism, Broad secondary alveolar ridge, Premature posterior fontanelle closure, High palate... |
ORPHA:3369 |
| Craniosynostosis, Adelaide Type |
|
Craniosynostosis, Carpal bone malsegmentation |
OMIM:600593 |
| Femoral-Facial Syndrome |
|
Abnormal fibula morphology, Scoliosis, Vertebral segmentation defect, Abnormal pelvic girdle bone... |
ORPHA:1988 |
| Primary Basilar Invagination |
|
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine |
ORPHA:2285 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... |
ORPHA:93403 |
| Santos Syndrome |
|
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... |
OMIM:613005 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Abnormal oral cavity morphology, Short philtrum, Frontal bossing, Micrognathia, Dolichocephaly, O... |
ORPHA:1516 |
| Brachyolmia, Maroteaux Type |
|
Abnormal form of the vertebral bodies, Short thorax, Scoliosis, Pectus excavatum, Platyspondyly |
ORPHA:93302 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Otosclerosis 8 |
|
Hearing impairment, Otosclerosis |
OMIM:612096 |
| Otosclerosis 3 |
|
Hearing impairment, Otosclerosis |
OMIM:608244 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... |
OMIM:610713 |
| Membranous Cranial Ossification, Delayed |
|
Frontal bossing, Hypertelorism |
OMIM:155980 |
| Becker Nevus Syndrome |
|
Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, K... |
ORPHA:64755 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... |
OMIM:609052 |
| Maxillonasal Dysplasia, Binder Type |
|
Large earlobe, Short nose, Depressed nasal bridge, Short columella |
OMIM:155050 |
| Deafness, Autosomal Dominant 75 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology |
OMIM:618778 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Abnormal form o... |
ORPHA:3258 |
| Trigonocephaly 1 |
|
Short nose, High, narrow palate, Hypotelorism, Metopic synostosis, Trigonocephaly, Long philtrum,... |
OMIM:190440 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Anteverted nares, Microtia, Macrocephaly, Underdeveloped nasal alae |
OMIM:612138 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... |
OMIM:249700 |
| Otosclerosis 7 |
|
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... |
OMIM:611572 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Fibular Hemimelia |
|
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... |
ORPHA:93323 |
| Autosomal Dominant Brachyolmia |
|
Abnormal metaphysis morphology, Kyphoscoliosis, Increased vertebral height, Short thorax, Platysp... |
ORPHA:93304 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ... |
OMIM:182255 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... |
OMIM:609616 |
| Deafness, Autosomal Dominant 87 |
|
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Delayed ossification of carpal bones, Irregular acetabular roof, Metaphyseal dysplasia, Platyspon... |
OMIM:617974 |
| Prognathism, Mandibular |
|
Craniosynostosis, Mandibular prognathia, Thick lower lip vermilion |
OMIM:176700 |
| Syndactyly Type 1 |
|
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... |
ORPHA:93402 |
| Syndactyly, Type Iii |
|
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... |
OMIM:186100 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormal vertebral morphology, Abnormal ilium morphology, Bilateral coxa valga, Abnormality of th... |
ORPHA:163665 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Orofacial cleft |
OMIM:218650 |
| Microtia, Hearing Impairment, And Cleft Palate |
|
Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Increased incisura l... |
OMIM:612290 |
| Meier-Gorlin Syndrome 8 |
|
Microtia, Micrognathia, Low-set ears |
OMIM:617564 |
| 6Q16 Microdeletion Syndrome |
|
Retrognathia, Macrocephaly, Anteverted nares, Microtia, Low-set ears, Abnormal ear morphology, Mi... |
ORPHA:171829 |
| X-Linked Intellectual Disability, Stoll Type |
|
Long philtrum, Frontal bossing, Hypertelorism, Malar flattening |
ORPHA:85326 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Ta... |
ORPHA:1836 |
| Orofaciodigital Syndrome Type 10 |
|
Metatarsal synostosis, Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm sh... |
ORPHA:2756 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Anteverted nares, Low-set, posteriorly rotated ears |
ORPHA:2015 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... |
ORPHA:3246 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Brachycephaly, Plagiocephaly, Short nose, Proptosis, Micrognathia, Ulnar deviation of the wrist, ... |
OMIM:618577 |
| Chromosome 1Q21.1 Duplication Syndrome |
|
Frontal bossing, Hypertelorism |
OMIM:612475 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... |
OMIM:201250 |
| Syndactyly, Type Iv |
|
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... |
OMIM:186200 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... |
ORPHA:1891 |
| Cranioectodermal Dysplasia |
|
Hypotelorism, Prominent occiput, Hypodontia, Abnormal dental enamel morphology, Everted lower lip... |
ORPHA:1515 |
| Robinow-Sorauf Syndrome |
|
Plagiocephaly, Long nose, Shallow orbits, Malar flattening, Pansynostosis, Flat face, Craniosynos... |
OMIM:180750 |
| Acromesomelic Dysplasia, Grebe Type |
|
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... |
ORPHA:2098 |
| Adducted Thumbs Syndrome |
|
High, narrow palate, High palate, Velopharyngeal insufficiency, Cleft palate, Craniosynostosis, A... |
OMIM:201550 |
| Crossed Polysyndactyly |
|
Hearing abnormality, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormality of the philt... |
ORPHA:2935 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Spina bifida occulta, Meningocele, Finger syndactyly, Ab... |
ORPHA:2311 |
| 3-Hydroxyisobutyric Aciduria |
|
Microcephaly, Microtia, Micrognathia |
ORPHA:939 |
| Craniosynostosis 6 |
|
Brachycephaly, Plagiocephaly, Turricephaly, Bicoronal synostosis, Parietal foramina, Right unilam... |
OMIM:616602 |
| Tibial Hemimelia |
|
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... |
ORPHA:93322 |
| Otosclerosis 1 |
|
Otosclerosis, Conductive hearing impairment |
OMIM:166800 |
| Ulnar Hemimelia |
|
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... |
ORPHA:93320 |
| Langer Mesomelic Dysplasia |
|
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... |
ORPHA:2632 |
| Branchiootic Syndrome 1 |
|
Retrognathia, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears,... |
OMIM:602588 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Narrow greater sciatic notch, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand,... |
OMIM:184252 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rh... |
ORPHA:1354 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Short nose, Microtia, Depressed nasal ridge |
ORPHA:221054 |
| Platyspondylic Dysplasia, Torrance Type |
|
Abnormal carpal morphology, Narrow chest, Metaphyseal cupping, Short thorax, Bowing of the long b... |
ORPHA:85166 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Spindle-shaped finger, Genu valgum, Abnormal vertebral morphology, Delayed epiphyseal ossificatio... |
ORPHA:166024 |
| Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares, Round ear |
ORPHA:1450 |
| Winchester Syndrome |
|
Carpal osteolysis, Arthropathy, Broad metacarpals, Kyphosis, Osteolysis involving tarsal bones |
OMIM:277950 |
| Summitt Syndrome |
|
Plagiocephaly, Genu valgum, Prominent metopic ridge, Narrow face, Camptodactyly of finger, Cranio... |
ORPHA:3210 |
| Cole-Carpenter Syndrome 1 |
|
Osteopenia, Reduced bone mineral density, Proptosis, Microdontia, Shallow orbits, Coronal cranios... |
OMIM:112240 |
| Wilson-Turner Syndrome |
|
Microtia, Micrognathia, Broad nasal tip, Malar prominence |
ORPHA:3459 |
| Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Microtia, Bifid nasal tip, Atresia of the external auditory canal, Conductive hearing impairment,... |
ORPHA:2213 |
| Pterygium Colli, Isolated |
|
Protruding ear, Short nose |
OMIM:177990 |
| Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Postnatal macrocephaly, Microtia |
OMIM:618158 |
| Branchiogenic-Deafness Syndrome |
|
Mixed hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear ossicle... |
OMIM:609166 |
| Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
| Otosclerosis 11 |
|
Absence of acoustic reflex, Otosclerosis, Sensorineural hearing impairment, Conductive hearing im... |
OMIM:620576 |
| Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
| Sprengel Deformity |
|
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Sprengel anomaly, R... |
OMIM:184400 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Narrow chest, Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synos... |
OMIM:251230 |
| ERI1-related disease |
|
Limited elbow extension, Increased vertebral height, Clinodactyly of the 5th finger, Narrow chest... |
OMIM:608739 |
| Multiple Synostoses Syndrome 1 |
|
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... |
OMIM:186500 |
| Oculoauriculofrontonasal Syndrome |
|
Macrocephaly, Wide nose, Microtia, Bifid nasal tip, Microcephaly, Conductive hearing impairment, ... |
ORPHA:398156 |
| Craniosynostosis 4 |
|
Retrognathia, Lambdoidal craniosynostosis, Bicoronal synostosis, Proptosis, Coronal craniosynosto... |
OMIM:600775 |
| Deafness, Autosomal Dominant 44 |
|
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... |
OMIM:607453 |
| Deafness, Autosomal Dominant 86 |
|
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... |
OMIM:620280 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Sco... |
OMIM:613686 |
| Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Anteverted nares, Microtia, Camptodactyly of finger, Micrognat... |
ORPHA:1703 |
| Hemifacial Microsomia With Radial Defects |
|
Atresia of the external auditory canal, Conductive hearing impairment, Microtia, Short mandibular... |
OMIM:141400 |
| Galactosialidosis |
|
Abnormal vertebral morphology, Abnormality of the vertebral column |
ORPHA:351 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Flat distal femoral epiphysis, Irregular epiphyses, Flat capital femoral epiphysis, Small epiphys... |
OMIM:614135 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Kyphoscoliosis, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication o... |
OMIM:600384 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Limited elbow extension, Short nose, Capitate-hamate fusion, Genu valgum, Recurrent patellar disl... |
OMIM:614078 |
| 20P12.3 Microdeletion Syndrome |
|
Macrocephaly, Microtia, Hypoplasia of the maxilla, Malar flattening, Thickened helices, Wide nasa... |
ORPHA:261295 |
| Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... |
ORPHA:50815 |
| Hemifacial Atrophy, Progressive |
|
Short mandibular rami, Delayed eruption of teeth, Microtia, Dental malocclusion, Horner syndrome |
OMIM:141300 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Multiple joint dislocation, Kyphosis, Slender metacarpals, Metaphyseal irregulari... |
ORPHA:93360 |
| Catifa Syndrome |
|
Anteverted nares, Microtia, Mild microcephaly, Delayed eruption of teeth |
OMIM:618761 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly |
OMIM:234280 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... |
ORPHA:3269 |
| Dyggve-Melchior-Clausen Disease |
|
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... |
ORPHA:239 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... |
ORPHA:174 |
| Dyggve-Melchior-Clausen Disease |
|
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... |
OMIM:223800 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Short nose, Anteverted nares, Low-set ears, Microcephaly, Enamel agenesis, Radioulnar synostosis,... |
OMIM:614701 |
| Triphalangeal Thumb With Polysyndactyly |
|
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... |
OMIM:190605 |
| Earring Holes, Natural |
|
Congenital earlobe sinuses |
OMIM:129000 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Pes planus, Dislocate... |
OMIM:618395 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Genu valgum, Flat capital femoral epiphysis, Intervertebral space narrowing, Pectus carinatum, Sc... |
OMIM:609223 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Abnormal thorax morphology |
ORPHA:85203 |
| Orofaciodigital Syndrome Xviii |
|
Preaxial polydactyly, Genu valgum, Short philtrum, Accessory oral frenulum, Sandal gap, Single tr... |
OMIM:617927 |
| Léri-Weill Dyschondrosteosis |
|
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... |
ORPHA:240 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... |
OMIM:271650 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... |
OMIM:603546 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Single transverse palmar crease, Oligo... |
OMIM:201170 |
| Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Tarsal synostosis |
OMIM:617898 |
| Jawad Syndrome |
|
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... |
OMIM:251255 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density |
OMIM:241520 |
| Smith-Mccort Dysplasia 2 |
|
Limited elbow extension, Genu valgum, Platyspondyly, Short metatarsal, Barrel-shaped chest, Pectu... |
OMIM:615222 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum... |
ORPHA:1570 |
| Gordon Syndrome |
|
Clinodactyly of the 5th finger, Talipes, Finger syndactyly, Scoliosis, Pectus excavatum, Camptoda... |
ORPHA:376 |
| Developmental Delay, Dysmorphic Facies, And Brain Anomalies |
|
Retrognathia, Microtia, Mandibular prognathia, Low-set ears, Microcephaly, Depressed nasal bridge |
OMIM:620535 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis |
OMIM:616566 |
| Branchiootic Syndrome |
|
Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, F... |
ORPHA:52429 |
| Jackson-Weiss Syndrome |
|
Calcaneonavicular fusion, Proptosis, Coronal craniosynostosis, Malar flattening, Craniosynostosis |
OMIM:123150 |
| Disorganization, Mouse, Homolog Of |
|
Sensorineural hearing impairment, Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplicati... |
OMIM:223200 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... |
ORPHA:40 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Pectus carinatum, Delayed ossification of carpal bones, Kyphosis, Brachydactyly, Short femoral neck |
OMIM:618392 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch |
OMIM:271620 |
| Humeroradial Synostosis |
|
Small earlobe, Microtia, Wide nasal bridge |
OMIM:236400 |
| Isotretinoin Syndrome |
|
Microtia, Biparietal narrowing, Micrognathia, Abnormality of the outer ear, Depressed nasal bridge |
ORPHA:2305 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r... |
ORPHA:93314 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Turricephaly, Triangular face, Lambdoidal craniosynostosis, Proptosis, High palate, C... |
OMIM:616294 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atr... |
ORPHA:3236 |
| Thoracolaryngopelvic Dysplasia |
|
Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Hypoplastic pelvis, Irregular ... |
OMIM:187760 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Joint hypermobility, Craniosynostosis, Widely spaced teeth |
OMIM:618906 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
| Atresia Of External Auditory Canal And Conductive Deafness |
|
Atresia of the external auditory canal, Stenosis of the external auditory canal, Conductive heari... |
OMIM:108760 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Brachycephaly, Short nose, Turricephaly, Micrognathia, Cleft palate, Malar flattening, Craniosyno... |
ORPHA:2145 |
| Schneckenbecken Dysplasia |
|
Snail-like ilia, Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped long bone, Th... |
OMIM:269250 |
| Metatropic Dysplasia |
|
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Flat acetabular... |
OMIM:156530 |
| Osteomesopyknosis |
|
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Parenti-Mignot Neurodevelopmental Syndrome |
|
Microtia, Prominent nasal tip, Low-set ears, Micrognathia, Posteriorly rotated ears, Prominent na... |
OMIM:619873 |
| Maxillofacial Dysostosis |
|
Abnormal pinna morphology |
OMIM:155000 |
| Developmental And Epileptic Encephalopathy 80 |
|
Polymicrogyria, Abnormal pinna morphology, High palate, Low-set ears, Protruding tongue, Hearing ... |
OMIM:618580 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Mullegama-Klein-Martinez Syndrome |
|
Absent stapes, Short philtrum, Sensorineural hearing impairment, Microtia, Low-set ears, Facial p... |
OMIM:301022 |
| Kyphomelic Dysplasia |
|
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr... |
ORPHA:1801 |
| Treacher Collins Syndrome 2 |
|
Retrognathia, Microtia, Choanal atresia, Fusion of middle ear ossicles, Conductive hearing impair... |
OMIM:613717 |
| Craniotelencephalic Dysplasia |
|
Craniosynostosis, Hypotelorism |
OMIM:218670 |
| Coxoauricular Syndrome |
|
Hearing impairment, Microtia, Atresia of the external auditory canal, Hip dislocation |
ORPHA:1508 |
| Odontochondrodysplasia 1 |
|
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... |
OMIM:184260 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Microtia, Atresia of the external auditory canal, Conductive hearing impairment, Micrognathia, Mi... |
OMIM:239800 |
| Auriculocondylar Syndrome 2A |
|
Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Stenosis of the external a... |
OMIM:614669 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Microtia, Stenosis of the external auditory canal, Glossoptosis, Everted lower l... |
OMIM:616367 |
| Zechi-Ceide Syndrome |
|
Abnormal earlobe morphology, Wide nose, Stenosis of the external auditory canal, Abnormal helix m... |
ORPHA:217017 |
| Opticocochleodentate Degeneration |
|
Hearing impairment, Optic atrophy, Cochlear degeneration |
OMIM:258700 |
| Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Chronic otitis media, Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:221320 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Brachycephaly, Craniosynostosis, Humeroradial synostosis |
OMIM:614416 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Copper beaten skull, Long philtrum, Thick lower lip vermilion, Proptosis, High palate, Joint hype... |
OMIM:619451 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Wide nose, Microtia, Low-set ears, Thick nasal alae, Micrognathia, Malar flattening |
ORPHA:357175 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Irregular ... |
OMIM:604864 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Thin vermilion border, Retrognathia, Death in childhood, Lissencephaly, Hydrocephalus, Sensorineu... |
OMIM:612938 |
| Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Broad distal phalanx of finger, Sandal gap, Dental crowding, Scoliosis, Hyperlordo... |
OMIM:615761 |
| Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Hypertelorism, Frontal bossing, Wide nasal bridge |
ORPHA:380 |
| Treacher Collins Syndrome 3 |
|
Microtia, Conductive hearing impairment, Micrognathia, Malar flattening, Hypoplasia of the zygoma... |
OMIM:248390 |
| Chondrodysplasia, Blomstrand Type |
|
Stillbirth, Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Short ribs, Micromeli... |
OMIM:215045 |
| Orofaciodigital Syndrome Xi |
|
Kyphoscoliosis, Hypoplasia of the odontoid process, Cleft palate, Postaxial polydactyly |
OMIM:612913 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Short palm, Flared, irregular rib ends, Coxa vara |
ORPHA:168555 |
| Deafness, Autosomal Dominant 77 |
|
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
| Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
| Antley-Bixler Syndrome |
|
Brachycephaly, Short nose, Turricephaly, Delayed cranial suture closure, Proptosis, Narrow mouth,... |
ORPHA:83 |
| Endosteal Hyperostosis, Worth Type |
|
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the ... |
ORPHA:2790 |
| Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares, Low-set ears |
ORPHA:46 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... |
OMIM:618013 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Atresia of the external auditory canal, Conductive hearing impairment, Microtia, Micrognathia |
OMIM:300946 |
| Bor Syndrome |
|
Retrognathia, Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, A... |
ORPHA:107 |
| Auriculocondylar Syndrome 4 |
|
Narrow mouth, Question mark ear, Glossoptosis, Hearing impairment, Micrognathia, Cleft palate |
OMIM:620457 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
| Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Sprengel anoma... |
ORPHA:1394 |
| Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,... |
OMIM:113650 |
| Atelis Syndrome 1 |
|
Microtia, Eczematoid dermatitis, Prominent nose, Carious teeth, Bronchiectasis, Glue ear |
OMIM:620184 |
| Axial Spondylometaphyseal Dysplasia |
|
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... |
ORPHA:168549 |
| Trichodentoosseous Syndrome |
|
Widely spaced teeth, Increased bone mineral density, Microdontia, Frontal bossing, Dolichocephaly... |
OMIM:190320 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis |
ORPHA:88643 |
| Osteoglosphonic Dysplasia |
|
Abnormal bone ossification, Multiple unerupted teeth, Tooth agenesis, Micrognathia, Craniosynosto... |
ORPHA:2645 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Short mandibular rami, Abnormality of the inner ear, Sensorineural hearing impairment, Microtia, ... |
ORPHA:2549 |
| Parietal Foramina With Cleidocranial Dysplasia |
|
Microtia, Macrocephaly, Widely patent fontanelles and sutures |
OMIM:168550 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Wide nose, Microtia, Low-set ears, Thick nasal alae, Micrognathia, Malar flattening |
OMIM:615162 |
| Otopalatodigital Syndrome, Type I |
|
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava... |
OMIM:311300 |
| Congenital Disorder Of Glycosylation, Type Iin |
|
Joint hypermobility, Craniosynostosis, Osteopenia |
OMIM:616721 |
| Syndactyly Type 3 |
|
Finger syndactyly, Camptodactyly of finger, Short toe |
ORPHA:93404 |
| Solitary Bone Cyst |
|
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... |
ORPHA:83468 |
| Brachydactyly Type A7 |
|
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... |
ORPHA:93397 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... |
OMIM:246570 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Dental crowding, Arthropathy, Craniosynostosis, Macroglossia, Hip dislocation, Scaphocephaly, Joi... |
OMIM:618523 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Brachycephaly, High palate, Frontal bossing, Craniosynostosis, Thin upper lip vermilion |
ORPHA:314575 |
| Tricho-Dento-Osseous Syndrome |
|
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Increased bone mineral densit... |
ORPHA:3352 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis |
ORPHA:71289 |
| Muenke Syndrome |
|
Brachycephaly, Plagiocephaly, High, narrow palate, Tarsal synostosis, Proptosis, Coronal craniosy... |
ORPHA:53271 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... |
OMIM:132400 |
| Microtia |
|
Hypoplastic helices, Unilateral conductive hearing impairment, Microtia, Abnormal pinna morpholog... |
ORPHA:83463 |
| Muenke Syndrome |
|
Brachycephaly, Plagiocephaly, Cloverleaf skull, Proptosis, High palate, Coronal craniosynostosis,... |
OMIM:602849 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
High, narrow palate, Plantar flexion contracture, Temporomandibular joint ankylosis, Micrognathia... |
ORPHA:2872 |
| Microtia With Meatal Atresia And Conductive Deafness |
|
Conductive hearing impairment, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear |
OMIM:251800 |
| Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Microtia, Abnormality of the middle ear, Conductive hearing im... |
ORPHA:246 |
| Frontoocular Syndrome |
|
Hypotelorism, Narrow philtrum, Proptosis, High palate, Narrow mouth, Trigonocephaly, Coronal cran... |
OMIM:605321 |
| Short Stature And Facioauriculothoracic Malformations |
|
Microtia, Low-set ears, High palate, Cleft upper lip, Cleft palate, Short neck, Overfolded helix,... |
OMIM:609654 |
| Xq21 Microdeletion Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorine... |
ORPHA:1435 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Brachycephaly, Short nose, Large fontanelles, Turricephaly, Thin vermilion border, Micrognathia, ... |
ORPHA:171839 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Low-set, posteriorly rotated ears, Microtia, Microcephaly, Camptodactyly of finger, Microretrogna... |
ORPHA:2994 |
| Craniofrontonasal Dysplasia |
|
Brachycephaly, Plagiocephaly, Orofacial cleft, Joint hypermobility, High palate, Abnormality of t... |
ORPHA:1520 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Macrocephaly, Wide nose, Anteverted nares, Microtia, Low-set ears, Hearing impairment, Craniosyno... |
OMIM:619056 |
| Catel-Manzke Syndrome |
|
Chronic otitis media, Low-set, posteriorly rotated ears, Glossoptosis, Oral synechia, Micrognathi... |
ORPHA:1388 |
| Thoracic Dysostosis, Isolated |
|
Short ribs, Bell-shaped thorax, Pectus excavatum |
OMIM:187750 |
| Brachydactyly, Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... |
OMIM:112600 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Carpal bone hypoplasia, Genu valgum, Ivory epiphyses of the toes, Hip subluxation, Small epiphyse... |
OMIM:226980 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... |
OMIM:607078 |
| Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis |
OMIM:218550 |
| Thoracomelic Dysplasia |
|
Short ribs, Bell-shaped thorax |
OMIM:273740 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Recurrent otitis media, Anteverted nares, Microtia, Micrognathia, Keratitis, Posteriorly rotated ... |
OMIM:602562 |
| Wahab Syndrome |
|
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... |
OMIM:615170 |
| Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Microtia |
ORPHA:139450 |
| Metatropic Dysplasia |
|
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... |
ORPHA:2635 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Abnormal cervical curvature, Thoracic hypoplasia, Absent radius,... |
ORPHA:56305 |
| Hypochondroplasia |
|
Limited elbow extension, Frontal bossing, Malar flattening, Craniosynostosis, Genu varum |
OMIM:146000 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Orofaciodigital Syndrome Iv |
|
Short finger, Short tibia, Tongue nodules, High palate, Low-set ears, Foot polydactyly, Postaxial... |
OMIM:258860 |
| Syndactyly Type 5 |
|
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... |
ORPHA:93406 |
| Johnson Neuroectodermal Syndrome |
|
Microtia, Facial palsy, Anosmia, Choanal atresia, Atresia of the external auditory canal, Conduct... |
ORPHA:2316 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Retrognathia, Plagiocephaly, Trigonocephaly, Decreased calvarial ossification, Micrognathia, Clef... |
OMIM:618265 |
| Deafness, Autosomal Dominant 9 |
|
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... |
OMIM:601369 |
| Atelosteogenesis, Type Ii |
|
Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Death in infancy, D... |
OMIM:256050 |
| Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... |
ORPHA:1972 |
| Hartsfield Syndrome |
|
Craniosynostosis, Hypertelorism, Non-midline cleft of the upper lip, Cleft palate |
ORPHA:2117 |
| Macrocephaly-Developmental Delay Syndrome |
|
Mandibular prognathia, High palate, Frontal bossing, Microretrognathia, Craniosynostosis, Wide na... |
ORPHA:397612 |
| Bent Bone Dysplasia Syndrome 1 |
|
Gingival overgrowth, Coronal craniosynostosis, Decreased calvarial ossification, Micrognathia, Na... |
OMIM:614592 |
| Auriculocondylar Syndrome |
|
Aplasia/Hypoplasia of the external ear, Cleft helix, Difficulty in tongue movements, Low-set, pos... |
ORPHA:137888 |
| Gomez-Lopez-Hernandez Syndrome |
|
Brachycephaly, Short nose, Thin vermilion border, Turricephaly, Wide anterior fontanel, High pala... |
OMIM:601853 |
| Crouzon Syndrome |
|
Brachycephaly, Lambdoidal craniosynostosis, Dental crowding, Mandibular prognathia, Proptosis, Hi... |
OMIM:123500 |
| Basilar Impression, Primary |
|
Craniofacial asymmetry, Platybasia |
OMIM:109500 |
| Brachydactyly, Type B1 |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplastic sacrum, Delayed cranial sutur... |
OMIM:113000 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Brachycephaly, Lambdoidal craniosynostosis, Bicoronal synostosis, Flat occiput, Delayed closure o... |
OMIM:618736 |
| Oligodontia |
|
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... |
ORPHA:99798 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short nose, Cubitus valgus, Low-set, posteriorly rotated ears, Attached earlobe, Microtia, Anteve... |
ORPHA:1327 |
| Otofaciocervical Syndrome |
|
Abnormal antihelix morphology, Anteverted nares, Atresia of the external auditory canal, Macrotia... |
ORPHA:2792 |
| Microphthalmia With Limb Anomalies |
|
Bilateral single transverse palmar creases, Sandal gap, Abnormal form of the vertebral bodies, Ab... |
ORPHA:1106 |
| Camptosynpolydactyly, Complex |
|
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly |
OMIM:607539 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Sacral dimple, Anencephaly, Abnormal pinna morphology, Postaxial hand po... |
OMIM:614175 |
| Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
| Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Death in infancy, Me... |
ORPHA:163966 |
| Tetramelic Monodactyly |
|
Oligodactyly, Split hand |
ORPHA:2564 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Kyphoscoliosis, Pes planus, Genu valgum, Small epiphyses, Short thorax, Scoliosis, Hyperlordosis,... |
OMIM:618363 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Fibular hypoplasia, Genu valgum, Fixed elbow flexion, Rhizomelia, Small epiphyses, Delayed epiphy... |
ORPHA:166016 |
| Polydactyly, Postaxial, Type A5 |
|
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly |
OMIM:263450 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Bilateral single transverse palmar creases, Abnormal fibula morphology, Sacral dimple, Abnormal t... |
ORPHA:2633 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Microtia, Micrognathia, Short nose |
ORPHA:2547 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Short nose, Anteverted nares, Microtia, Progressive microcephaly, Low-set ears, Choanal atresia, ... |
OMIM:610536 |
| Bent Bone Dysplasia Syndrome 2 |
|
Butterfly vertebrae, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, H... |
OMIM:620076 |
| Boomerang Dysplasia |
|
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Narrow ches... |
ORPHA:1263 |
| Desbuquois Dysplasia 1 |
|
Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala... |
OMIM:251450 |
| Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Short nose, Hypertelorism, Long philtrum |
OMIM:125700 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Abnormal pinna morphology, Abnormal oral frenulum morphology, Bifid ... |
OMIM:200990 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
| Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Coronal craniosynostosis, Micrognathia, Malar flattening, Aglossia, Pu... |
OMIM:241310 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, High palate, Protruding tongue, Macrotia, Wide mouth, Thick vermilion border, Po... |
OMIM:618106 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal metaphysis morphology, Thin vermilion border, Low-set, posteriorly rotated ears, Abnorma... |
ORPHA:2631 |
| Braddock-Carey Syndrome 2 |
|
Retrognathia, Hearing impairment, Atresia of the external auditory canal, Microcephaly, Bulbous nose |
OMIM:619981 |
| Deafness, X-Linked 7 |
|
Stenosis of the external auditory canal, Hearing impairment, Atresia of the external auditory can... |
OMIM:301018 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Aplasia/Hypoplasia ... |
OMIM:612447 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Coronal craniosynostosis, Retrognathia, Microtia, Microcephaly |
ORPHA:163976 |
| Ayme-Gripp Syndrome |
|
Brachycephaly, Short nose, Long philtrum, Flat face, Mandibular prognathia, Delayed cranial sutur... |
OMIM:601088 |
| Brachyolmia Type 1, Hobaek Type |
|
Short iliac bones, Squared-off platyspondyly, Lumbar hypolordosis, Platyspondyly, Intervertebral ... |
OMIM:271530 |
| Crouzon Syndrome |
|
Brachycephaly, Narrow palate, Turricephaly, Proptosis, Multiple suture craniosynostosis, Hypoplas... |
ORPHA:207 |
| Seckel Syndrome 7 |
|
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal... |
OMIM:614851 |
| Arthrogryposis, Distal, Type 1C |
|
Rocker bottom foot, Wrist flexion contracture, Bifid uvula, Adducted thumb, Scoliosis, Elbow flex... |
OMIM:619110 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Kyphoscoliosis, Butterfly vertebrae, Rhizomelia, Single transverse palmar crease, Short long bone... |
OMIM:611209 |
| Weiss-Kruszka Syndrome |
|
Short nose, Anteverted nares, Microtia, Low-set ears, Prominent metopic ridge, Hearing impairment... |
OMIM:618619 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Mixed hearing impairment, Broad neck, Sensorineural hearing impairment, Microtia, Stenosis of the... |
OMIM:606164 |
| Osteogenesis Imperfecta, Type Iv |
|
Hearing impairment, Otosclerosis, Wormian bones, Dentinogenesis imperfecta |
OMIM:166220 |
| Pallister-Hall Syndrome |
|
Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Hip dislo... |
OMIM:146510 |
| Sprengel Deformity |
|
Abnormal shoulder morphology, Torticollis, Shoulder muscle hypoplasia, Abnormality of the shoulde... |
ORPHA:3181 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601382 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Anteverted nares, Microtia, Low-set ears, Prominent nose, Micrognathia, Dystonia, Posteriorly rot... |
OMIM:618829 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Umbilical herni... |
OMIM:265000 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Abnormality of the hand, Fibular hypoplasia, Fibular aplasia, Abnormal foot morphology, Anterior ... |
OMIM:605274 |
| Craniotelencephalic Dysplasia |
|
Craniosynostosis, Frontal bossing |
ORPHA:1528 |
| Orofaciodigital Syndrome Viii |
|
Polydactyly, Short tibia, Syndactyly |
OMIM:300484 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Microtia, Pancreatitis, Recurrent upper respiratory tract infections |
OMIM:620137 |
| Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the pa... |
ORPHA:1149 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Abnormal pinna morphology, Split hand, Ectrodactyly, Finger aplasia, Hearing... |
OMIM:183600 |
| Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ... |
OMIM:176240 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Limited elbow extension, Cubitus valgus, 2-3 toe syndactyly, Thoracolumbar scoliosis, Clinodactyl... |
OMIM:610313 |
| Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities |
|
Narrow palate, Retrognathia, Triangular face, Bifid uvula, Wide mouth, Craniosynostosis, Coarse f... |
OMIM:620428 |
| External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Hearing impairment, Atresia of the external auditory canal |
ORPHA:3023 |
| Marshall-Smith Syndrome |
|
Retrognathia, Short nose, Reduced bone mineral density, Gingival overgrowth, Proptosis, Protrudin... |
ORPHA:561 |
| Polydactyly, Postaxial, Type A10 |
|
Postaxial polydactyly type A, Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:618498 |
| Juberg-Hayward Syndrome |
|
Hypoplasia of the radius, Abnormality of the wrist, Abnormal vertebral morphology, Abnormal metac... |
ORPHA:2319 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... |
OMIM:228900 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Metacarpal synostosis, Proptosis, Hypertelorism |
ORPHA:35099 |
| Paganini-Miozzo Syndrome |
|
Microtia, Mandibular prognathia, Low-set ears, Posteriorly rotated ears, Malar flattening |
OMIM:301025 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De... |
OMIM:617405 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar |
OMIM:114700 |
| Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... |
OMIM:174200 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Oligodactyly, Split hand, Absent hand |
ORPHA:2440 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Abnormal cortical bone morphology, Wormian bones, Limitation of joint mobility, Dolichocephaly, D... |
ORPHA:166277 |
| Raine Syndrome |
|
Mixed hearing impairment, Hydrocephalus, Gingival overgrowth, Abnormal pinna morphology, High pal... |
OMIM:259775 |
| Acrocapitofemoral Dysplasia |
|
Narrow chest, Short thorax, Pectus carinatum, Scoliosis, Hyperlordosis, Pectus excavatum, Flared ... |
ORPHA:63446 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Pear-shaped vertebrae, Irregu... |
OMIM:602111 |
| Acromicric Dysplasia |
|
Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Ovoid vertebr... |
OMIM:102370 |
| Vitamin K Antagonist Embryofetopathy |
|
Optic atrophy, Short nose, Anteverted nares, Microtia, Choanal atresia, Hearing impairment, Depre... |
ORPHA:1914 |
| Eiken Syndrome |
|
Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, Broad palm, Abnormal acetabu... |
ORPHA:79106 |
| Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coronal craniosynostosis, Lambdoidal craniosynostosis |
OMIM:601370 |
| Acrodysplasia Scoliosis |
|
Scoliosis, Vertebral segmentation defect, Spina bifida occulta, Brachydactyly |
ORPHA:2956 |
| Brachyolmia Type 1, Toledo Type |
|
Kyphoscoliosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Precocious costo... |
OMIM:271630 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Genu varum, Metaphyseal cuppi... |
OMIM:250420 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subluxation, Abn... |
ORPHA:2619 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Scol... |
OMIM:214300 |
| Smith-Mccort Dysplasia 1 |
|
Beaking of vertebral bodies, Genu valgum, Irregular epiphyses, Barrel-shaped chest, Hypoplastic a... |
OMIM:607326 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Wrist swelling, Hyperlordosis, Broad femoral neck, Abnormality of hand joint mobility, Genu varum... |
ORPHA:1159 |
| Endove Syndrome, Limb-Only Type |
|
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... |
OMIM:619217 |
| Becker Nevus Syndrome |
|
Scoliosis, Hemivertebrae, Pectus excavatum, Cervical ribs |
OMIM:604919 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Syndactyly |
OMIM:615938 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Femoral bowing, T... |
ORPHA:93356 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Darwin tubercle of helix, Scapular winging, Unilateral cleft palate, Six lumbar vertebrae, Supern... |
OMIM:619122 |
| Intellectual Developmental Disorder, X-Linked 45 |
|
Protruding ear, Macrotia |
OMIM:300498 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Tarsal synostosis, Abnormality of the wrist, Bilateral conductive hearing impairment, Abnormality... |
ORPHA:2010 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... |
OMIM:608728 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... |
ORPHA:1307 |
| Weiss-Kruszka Syndrome |
|
Short nose, Prominent nasal tip, Low-set ears, Hearing impairment, Abnormality of the outer ear |
ORPHA:502430 |
| Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Mandibular prognathia, Open bite, High palate, Trigonocephaly, Dolichocephaly, Hypertelorism |
ORPHA:168624 |
| Weyers Acrofacial Dysostosis |
|
Clinodactyly of the 5th finger, Solitary median maxillary central incisor, Conical tooth, Postaxi... |
OMIM:193530 |
| Auriculocondylar Syndrome 1 |
|
Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Stenosis of the ... |
OMIM:602483 |
| Icf Syndrome |
|
Low-set ears, Communicating hydrocephalus, Protruding tongue, Micrognathia, Umbilical hernia, Mac... |
ORPHA:2268 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplastic nasal septum, Anteverted nares, Microtia, Bilateral sensorineural hearing impairment,... |
ORPHA:40366 |
| Kbg Syndrome |
|
Radial deviation of finger, Clinodactyly of the 5th finger, Webbed neck, Single transverse palmar... |
OMIM:148050 |
| Ohdo Syndrome |
|
Short nose, Stenosis of the external auditory canal, Microtia, Anteverted nares, Hearing impairme... |
OMIM:249620 |
| Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions... |
OMIM:187601 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ... |
OMIM:617102 |
| Fetal Akinesia Deformation Sequence 4 |
|
Rocker bottom foot, Broad neck, 11 pairs of ribs, Kyphosis, Camptodactyly, Prenatal death, Neonat... |
OMIM:618393 |
| Spondylometaphyseal Dysplasia, Axial |
|
Narrow greater sciatic notch, Rhizomelia, Narrow chest, Scoliosis, Coxa vara, Anterior rib cuppin... |
OMIM:602271 |
| 16P13.11 Microduplication Syndrome |
|
Joint hypermobility, Craniosynostosis, Dolichocephaly |
ORPHA:261243 |
| Gorlin Syndrome |
|
Abnormal vertebral morphology, Vertebral wedging, Scoliosis, Hemivertebrae, Abnormal rib morpholo... |
ORPHA:377 |
| Arthrogryposis, Distal, Type 1A |
|
Rocker bottom foot, Webbed neck, Single transverse palmar crease, Scoliosis, Elbow flexion contra... |
OMIM:108120 |
| Aase-Smith Syndrome |
|
Abnormal hip bone morphology, Scoliosis, Abnormal pinna morphology, Slender finger, Camptodactyly... |
ORPHA:916 |
| Syndactyly, Type V |
|
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... |
OMIM:186300 |
| Diastrophic Dysplasia |
|
Kyphoscoliosis, Short finger, Genu valgum, Cystic lesions of the pinnae, Irregular epiphyses, Tal... |
OMIM:222600 |
| Distal Deletion 17Q |
|
Optic atrophy, Low-set, posteriorly rotated ears, Microtia, Prominent metopic ridge, Microcephaly |
ORPHA:1597 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... |
ORPHA:157801 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Kyphoscoliosis, Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysi... |
OMIM:184253 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Webbed neck, Abnormality of the ve... |
ORPHA:2345 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Microtia, Low-set ears, Atresia of the external auditory canal, Micrognathia |
ORPHA:3429 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Short nose, Anteverted nares, Low-set ears, Depressed nasal ridge, Posteriorly rotated ears |
ORPHA:1832 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Trigonocephaly, Micrognathia, Natal tooth, Hypertelorism, Sagittal craniosynostosis, Scaphocephaly |
OMIM:616901 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Abnormality of the hand, Clinodactyly of the 5th finger, Clinodactyly of the 3rd toe, Abnormality... |
ORPHA:521308 |
| Craniosynostosis And Dental Anomalies |
|
Chronic otitis media, Supernumerary tooth, Convex nasal ridge, Lambdoidal craniosynostosis, Wide ... |
OMIM:614188 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... |
OMIM:156500 |
| Intellectual Disability And Myopathy Syndrome |
|
Limited elbow extension, Hypotelorism, Incisor macrodontia, Congenital hip dislocation, Achilles ... |
OMIM:619719 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Aplasia/Hypoplasia of the external ear, EEG with burst suppression, Low-set ears, Microcephaly, W... |
ORPHA:168486 |
| Pfeiffer Syndrome |
|
Short nose, Cloverleaf skull, Mandibular prognathia, Dental crowding, High palate, Brachyturricep... |
OMIM:101600 |
| Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology, Sensorineural hearing impairment, Vestibular hypofunction, Abn... |
ORPHA:231169 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Peg-shaped maxillary lateral incisors, Anteverted ears, Prominent nose, Microtia, first degree, M... |
OMIM:610706 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Abnormal vertebral morphology, Spina bifida occulta, Finger syndactyly, Sco... |
ORPHA:64754 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... |
OMIM:616648 |
| Chromosome 5P13 Duplication Syndrome |
|
Brachycephaly, Turricephaly, Hypotelorism, Short philtrum, Proptosis, High palate, Frontal bossin... |
OMIM:613174 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Long nose, Microtia, Relative macrocephaly, Low-set ears, Eczematoid dermatitis, Microcephaly, Mi... |
OMIM:618336 |
| Bardet-Biedl Syndrome 7 |
|
Polydactyly, 2-3 toe syndactyly, Narrow mouth, Postaxial polydactyly, Clinodactyly |
OMIM:615984 |
| Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Death in in... |
OMIM:601559 |
| Hypochondroplasia |
|
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,... |
ORPHA:429 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... |
OMIM:184250 |
| Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormal form of the vertebral bo... |
ORPHA:3104 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Tria... |
ORPHA:370010 |
| Stuve-Wiedemann Syndrome 2 |
|
Stillbirth, Scoliosis, Short long bone, Bowing of the long bones, Camptodactyly, Death in adolesc... |
OMIM:619751 |
| Greig Cephalopolysyndactyly Syndrome |
|
Abnormal calvaria morphology, Metopic synostosis, Delayed cranial suture closure, Trigonocephaly,... |
OMIM:175700 |
| Acheiropody |
|
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... |
OMIM:200500 |
| 15Q11Q13 Microduplication Syndrome |
|
Finger syndactyly, Clinodactyly of the 5th finger |
ORPHA:238446 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Popliteal pterygium, Axillary pterygium, Multiple pterygia, Webbed neck, Spina bifida occulta, Fi... |
ORPHA:2990 |
| Teebi Hypertelorism Syndrome 1 |
|
Short nose, Dental crowding, Coronal craniosynostosis, Frontal bossing, Micrognathia, Natal tooth... |
OMIM:145420 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Broad neck, Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short long bone, Sho... |
OMIM:611717 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Short ribs, Scoliosis, Hemivertebrae, Missing ribs, Block vertebrae, Rib fusion, Short... |
OMIM:271520 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Microtia, Narrow mouth, Everted lower lip vermilion, Low-set ears, Downturned corners of mouth, C... |
OMIM:618089 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Conical tooth, Midgut malrotation, Low-set ears... |
OMIM:263750 |
| Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Cup... |
OMIM:614524 |
| Diastrophic Dysplasia |
|
Abnormal metaphysis morphology, Short finger, Abnormal clavicle morphology, Proximal placement of... |
ORPHA:628 |
| Osteogenesis Imperfecta, Type I |
|
Hearing impairment, Otosclerosis, Wormian bones, Dentinogenesis imperfecta |
OMIM:166200 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Hearing impairment, Microtia, Depressed nasal bridge |
OMIM:616006 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... |
OMIM:609432 |
| Saethre-Chotzen Syndrome |
|
Optic atrophy, Convex nasal ridge, Abnormal antihelix morphology, Sensorineural hearing impairmen... |
ORPHA:794 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Retrognathia, Short nose, High, narrow palate, Widely patent coronal suture, Proptosi... |
ORPHA:2409 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Thin vermilion border, Retrognathia, Sensorineural hearing impairment, Gingival overgrowth, Mandi... |
OMIM:212066 |
| Talo-Patello-Scaphoid Osteolysis |
|
Short 4th metacarpal, Synovitis, Enlarged joints, Osteolysis of patellae, Osteolysis of talus, Os... |
ORPHA:50809 |
| Spondylosis, Cervical |
|
Spondylolysis, Spondylolisthesis, Spina bifida occulta, Osteoarthritis, Cervical spondylosis |
OMIM:184300 |
| Basal Cell Nevus Syndrome 1 |
|
Kyphoscoliosis, Vertebral wedging, Abnormal sternum morphology, Scoliosis, Hemivertebrae, Short r... |
OMIM:109400 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Brachycephaly, Conical tooth, Abnormality of the dentition, Coronal craniosynostosis, Frontal bos... |
ORPHA:228390 |
| 17Q24.2 Microdeletion Syndrome |
|
Recurrent otitis media, Cubitus valgus, Abnormality of the wrist, Otosclerosis, Microtia, Abnorma... |
ORPHA:529962 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Macrotia, Short nose, Depressed nasal bridge |
ORPHA:438178 |
| Anauxetic Dysplasia 1 |
|
Limited elbow extension, Short finger, Rhizomelia, Barrel-shaped chest, Small epiphyses, Flared m... |
OMIM:607095 |
| X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Webbed neck, Sensorineural hearing impairment, Branchial anoma... |
ORPHA:1131 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Genu valgum, Low-set, posteriorly rotated ears, Anteverted nares, Hypoplasia of the ear cartilage... |
ORPHA:1035 |
| Juberg-Hayward Syndrome |
|
Limited elbow extension, Abnormal carpal morphology, Aplasia/Hypoplasia of the thumb, Abnormal to... |
OMIM:216100 |
| Steel Syndrome |
|
Limited elbow extension, Pes cavus, Clinodactyly of the 5th finger, Dislocated radial head, Scoli... |
OMIM:615155 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High, narrow palate, Redundant neck skin, Death in childhood, Sensorineural hearing impairment, A... |
OMIM:214100 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Kyphoscoliosis, Rocker bottom foot, Abnormal hip bone morphology, Abnormal sternum morphology, Hy... |
ORPHA:457395 |
| Three M Syndrome 3 |
|
Increased vertebral height, Clinodactyly of the 5th finger, Slender long bone, Short thorax, Hype... |
OMIM:614205 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Abnormal nostril morphology, Abnormality of the wrist, Aplasia/Hypoplasia of the earlobes, Stenos... |
ORPHA:2878 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Thickened Achilles tendon, Limited mobility of proximal interphalangeal joint, Abnormal metacarpo... |
ORPHA:85438 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Easily subluxated first metacarpophalangeal joints, Clinodactyly of the 5th finger, Glossoptosis,... |
OMIM:311895 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Small epiphyses, Scoliosis, Short long bone, Lumbar scoliosis, Knee dislocation, Adducted thumb, ... |
OMIM:620269 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... |
ORPHA:1802 |
| Nager Syndrome |
|
Low-set, posteriorly rotated ears, Microtia, Hearing impairment, Atresia of the external auditory... |
ORPHA:245 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, High palate, Everted lower lip vermilion, Low-set ears, Protruding tongue,... |
OMIM:617804 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t... |
ORPHA:93267 |
| Pierre Robin Syndrome |
|
Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:261800 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... |
OMIM:605289 |
| Atelosteogenesis, Type Iii |
|
Widened distal phalanges, Tombstone-shaped proximal phalanges, Cervical segmentation defect, Sand... |
OMIM:108721 |
| External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Atresia of the external auditory canal, Conductive hearing impairment, Congenital hip dislocation |
OMIM:133705 |
| 17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Short nose, Abnormality of the outer ear |
ORPHA:217340 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Low hanging columella, Attached earlobe, Microtia, Anteverted nares, Microcephaly, Dystonia, Prom... |
OMIM:616977 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short nose, Genu valgum, Low-set, posteriorly rotated ears, Microtia, Severe sensorineural hearin... |
ORPHA:2983 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia |
OMIM:188740 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Everted lower lip vermilion, Protruding tongue, Macrotia, Smooth philtrum,... |
ORPHA:324410 |
| Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... |
ORPHA:3344 |
| Schilbach-Rott Syndrome |
|
Long nose, Microtia, Microcephaly, Micrognathia, Posteriorly rotated ears, Prominent nose |
OMIM:164220 |
| Pfeiffer Syndrome Type 1 |
|
Brachycephaly, Short nose, Bicoronal synostosis, Proptosis, High palate, Hypertelorism |
ORPHA:93258 |
| Lambotte Syndrome |
|
Retrognathia, Atresia of the external auditory canal, Macrotia, Microcephaly, Convex nasal ridge |
OMIM:245552 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Ankle flexion contracture, Micrognathia, Limb joint contracture, Knee flexion contracture, Cranio... |
ORPHA:284417 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... |
OMIM:268310 |
| Even-Plus Syndrome |
|
Short nose, Microtia, Bifid nasal tip, Depressed nasal ridge, Atopic dermatitis |
OMIM:616854 |
| Autosomal Recessive Omodysplasia |
|
Short nose, Pterygium, Frontal bossing, Micrognathia, Long philtrum, Craniosynostosis, Elbow disl... |
ORPHA:93329 |
| Orofaciodigital Syndrome Vi |
|
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... |
OMIM:277170 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Short finger, Low-set ears, High palate, Postaxial hand polydactyly, Broad thumb |
OMIM:300209 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Short long bone, Flat acetabular roof, Short ribs, Hypoplastic ischia, Dumbbell-shaped long bone,... |
OMIM:151210 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... |
ORPHA:93284 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly |
OMIM:225300 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Stenosis of the external auditory canal, Atresia of the external auditory canal, Conductive heari... |
OMIM:608257 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Recurrent otitis media, Microtia, Hearing impairment, Hypoplasia of teeth, Microcephaly, Abnormal... |
ORPHA:2728 |
| Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Mandibular prognathia, Everted lower lip vermilion, Protruding tongue,... |
OMIM:610253 |
| Hypophosphatasia |
|
Craniosynostosis, Large fontanelles, Abnormality of the dentition, Recurrent fractures |
ORPHA:436 |
| Autosomal Recessive Robinow Syndrome |
|
Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Pectus cari... |
ORPHA:1507 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Brachycephaly, Plagiocephaly, Abnormal palate morphology, Tarsal synostosis, Abnormal dental enam... |
ORPHA:85199 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Short lower limbs, Wormia... |
OMIM:259440 |
| Ruvalcaba Syndrome |
|
Limited elbow extension, Short metatarsal, Narrow chest, Scoliosis, Short metacarpal, Kyphosis, M... |
OMIM:180870 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gingival overgrowth, Low-set ears, Gray matter heterotopia, Protruding tongue, Wide mouth |
OMIM:618797 |
| 19P13.3 Microduplication Syndrome |
|
Hip subluxation, Microtia, Low-set ears, Microcephaly, Micrognathia, Posteriorly rotated ears, Pr... |
ORPHA:447980 |
| Tetraploidy |
|
Biparietal narrowing, Microcephaly, Micrognathia, Hypoplasia of the ear cartilage, Convex nasal r... |
ORPHA:3305 |
| Microtia-Anotia |
|
Microtia, Anotia |
OMIM:600674 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Craniosynostosis, Short nose |
OMIM:614732 |
| Joubert Syndrome 18 |
|
Kyphoscoliosis, Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polyd... |
OMIM:614815 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Retrognathia, Microtia, Recurrent shoulder dislocation, Finger joint contracture, Narrow nose |
OMIM:212112 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Plagiocephaly, Tarsal synostosis, Talon cusp, Microdontia, Cleft palate, Radioulnar synostosis, H... |
OMIM:605282 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyperlordosis, Areflexia of lower limbs, Calcaneovalgus deformity, Hyporeflexia of lower limbs |
OMIM:162370 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Microtia, Micrognathia, Cleft palate, Anotia |
OMIM:243440 |
| Clark-Baraitser syndrome |
|
Genu valgum, Thick lower lip vermilion, Genu recurvatum, Prominent median palatal raphe, Exaggera... |
OMIM:300602 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Retrognathia, Short nose, Macrocephaly, Microtia, Hearing impairment, Macrotia, Hypoplasia of tee... |
OMIM:620250 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Metopic depression, Gingival overgrowth, Steep acetabular roof, Coronal craniosynosto... |
ORPHA:313855 |
| Desbuquois Dysplasia 2 |
|
Pectus carinatum, Short long bone, Flat acetabular roof, Short metacarpal, Pectus excavatum, Knee... |
OMIM:615777 |
| Non-Distal Duplication 10Q |
|
Convex nasal ridge, Short nose, Low-set, posteriorly rotated ears, Depressed nasal bridge |
ORPHA:1695 |
| Hoxha-Aliu Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec... |
OMIM:620662 |
| Auriculocondylar Syndrome 3 |
|
Retrognathia, Stenosis of the external auditory canal, Bilateral conductive hearing impairment, G... |
OMIM:615706 |
| Aural Atresia, Congenital |
|
Atresia of the external auditory canal, Conductive hearing impairment, Hyposmia |
OMIM:607842 |
| Multiple Synostoses Syndrome 2 |
|
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Humeroradial synostosis, Proximal s... |
OMIM:610017 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Microtia, Biparietal narrowing, Atresia of the external audito... |
ORPHA:1770 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Micrognathia, Macroglossia, Low-set ears, Protruding tongue |
OMIM:242860 |
| Juvenile Sialidosis Type 2 |
|
Optic atrophy, Gingival overgrowth, Low-set ears, Protruding tongue, Hearing impairment, Umbilica... |
ORPHA:93399 |
| Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Sandal gap, Scoliosis, High palate, Low-set ears, Ankyloglossia, Postaxial... |
OMIM:174300 |
| Arthrogryposis, Distal, Type 2B1 |
|
Rocker bottom foot, Scoliosis, Absent phalangeal crease, Ulnar deviation of the hand or of finger... |
OMIM:601680 |
| 49,Xyyyy Syndrome |
|
Large carpal bones, Abnormality of the epiphyses of the elbow, Cubitus valgus, Scoliosis, Bridged... |
ORPHA:99330 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Scoliosis, Hand polydactyly, Rib fusion, Craniosynostosis |
ORPHA:261197 |
| 3P25.3 Microdeletion Syndrome |
|
High, narrow palate, Sacral dimple, Proximal placement of thumb, Short philtrum, Acromesomelia, S... |
ORPHA:435638 |
| Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Microtia, Low-set ears, Hypoplasia of the maxilla, Microcephaly, Micrognathia, P... |
OMIM:613804 |
| Jeune Syndrome |
|
Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma... |
ORPHA:474 |
| Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Jo... |
ORPHA:85198 |
| Mucolipidosis Iii Alpha/Beta |
|
Carpal bone hypoplasia, Spondylolisthesis, Scoliosis, Short long bone, Split hand, Short ribs, Ky... |
OMIM:252600 |
| Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Limited pronati... |
OMIM:620019 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... |
ORPHA:52368 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormal vertebral morphology, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Cervic... |
ORPHA:93346 |
| Acromesomelic Dysplasia 4 |
|
Sandal gap, Short metacarpal, Mesomelia, Umbilical hernia, Metaphyseal irregularity, Prominent de... |
OMIM:619636 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... |
OMIM:305620 |
| Acrocraniofacial Dysostosis |
|
Advanced eruption of teeth, Genu valgum, Low-set, posteriorly rotated ears, Sensorineural hearing... |
ORPHA:949 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Scoliosi... |
OMIM:613091 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, Syndactyly, Brachydactyly |
OMIM:615983 |
| Brachydactyly Type B |
|
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... |
ORPHA:93383 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact... |
ORPHA:392 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Broad distal phalanx of finger, Scoliosis, 2-3 toe syndactyly, Low-set ears, Kyphosis, Abnormal o... |
ORPHA:404440 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Microtia, Hearing impairment, Carious teeth, Conjunctivitis, Cupped ear |
OMIM:620192 |
| Hypomandibular Faciocranial Dysostosis |
|
Brachycephaly, Short nose, Maxillozygomatic hypoplasia, Proptosis, Narrow mouth, Trigonocephaly, ... |
ORPHA:1790 |
| 46,Xy Sex Reversal 4 |
|
Distal symphalangism, Recurrent otitis media, Sensorineural hearing impairment, Microtia, Antever... |
OMIM:154230 |
| Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology |
ORPHA:231183 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Narro... |
ORPHA:66637 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Thin vermilion border, Narrow mouth, High palate, Anteverted ears, Postaxial polydactyly, Macroti... |
ORPHA:544254 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Supernumerary tooth, Agenesis of molar, Bicoronal synostosis, Osteoporosis, Microdont... |
OMIM:619718 |
| Schinzel-Giedion Syndrome |
|
Short nose, Retrognathia, Aganglionic megacolon, Delayed eruption of teeth, Hypsarrhythmia, Wide ... |
ORPHA:798 |
| Polydactyly, Postaxial, Type A9 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:618219 |
| Congenital Vertical Talus |
|
Rocker bottom foot, Abnormality of the foot musculature, Lower extremity joint dislocation, Myelo... |
ORPHA:178382 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Sacral dimple, Abnormal form of the... |
ORPHA:2064 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Short nose, Anteverted nares, Depressed nasal ridge |
ORPHA:1355 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Slender long bone, Pectus carinatum, Short 5th finger, Hyperlordosis, ... |
OMIM:612921 |
| Congenital Disorder Of Deglycosylation 2 |
|
Macrocephaly, Genu recurvatum, Microtia, Hearing impairment, Cleft earlobe, Micrognathia, Short c... |
OMIM:619775 |
| Sweeney-Cox Syndrome |
|
Broad neck, Short philtrum, Wide anterior fontanel, Microtia, Narrow mouth, High palate, Anal atr... |
OMIM:617746 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Microtia, Mandibular prognathia, Prominent metopic ridge, Hearing impairment, Posteriorly rotated... |
OMIM:620475 |
| Carpenter Syndrome |
|
Kyphoscoliosis, Polydactyly, Genu valgum, Craniosynostosis, Finger syndactyly, Postaxial hand pol... |
ORPHA:65759 |
| Distal Deletion 9P |
|
Short nose, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Aplasia/Hypoplasia ... |
ORPHA:1642 |
| Pycnodysostosis |
|
Proptosis, Persistent open anterior fontanelle, Joint hypermobility, Delayed eruption of primary ... |
ORPHA:763 |
| Larsen Syndrome |
|
Broad distal phalanx of finger, Large joint dislocations, Finger syndactyly, Scoliosis, Vertebral... |
ORPHA:503 |
| Thoracomelic Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal fibula morphology, Genu valg... |
ORPHA:1803 |
| Atelosteogenesis, Type I |
|
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon... |
OMIM:108720 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Osteopenia, Delayed eruption of teeth, Recurrent fractures, Abnormality of the dentition, Gingivi... |
ORPHA:2314 |
| Gollop-Wolfgang Complex |
|
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... |
ORPHA:320401 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... |
ORPHA:2141 |
| Acromesomelic Dysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metatarsal, Hypoplasi... |
OMIM:602875 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:2578 |
| Enlarged Parietal Foramina |
|
Parietal foramina, Cleft lip, Cleft palate, Craniosynostosis |
ORPHA:60015 |
| Distal Duplication 5Q |
|
Short nose, Long philtrum, Thin vermilion border, Narrow mouth, Carious teeth, Micrognathia, Flat... |
ORPHA:96097 |
| Monosomy 5P |
|
Finger syndactyly, Scoliosis, Microretrognathia, Short neck, Small hand |
ORPHA:281 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Delayed pubic bone ossific... |
ORPHA:1856 |
| Hypersulfaturia |
|
Costochondral pain |
OMIM:620372 |
| Multiple Osteochondromas |
|
Abnormal femur morphology, Limitation of knee mobility, Cervical myelopathy, Deformed forearm bon... |
ORPHA:321 |
| Chromosome Xq21 Deletion Syndrome |
|
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... |
OMIM:303110 |
| Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Limited elbow flexion/extension, Foot joint contracture, Short philtrum, Inc... |
ORPHA:166108 |
| Van Maldergem Syndrome 1 |
|
Sensorineural hearing impairment, Microtia, Wide anterior fontanel, High palate, Gray matter hete... |
OMIM:601390 |
| Spinal Dysplasia, Anhalt Type |
|
Narrow anterio-posterior vertebral body diameter, Coxa vara, Thoracolumbar scoliosis, Thoracic he... |
OMIM:601344 |
| Ring Chromosome 22 Syndrome |
|
Macrotia, Thick vermilion border, Protruding tongue |
ORPHA:1446 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... |
OMIM:228930 |
| Orofaciodigital Syndrome Xvii |
|
Polydactyly, High, narrow palate, Clubbing of fingers, Low-set ears, Central Y-shaped metacarpal,... |
OMIM:617926 |
| Diamond-Blackfan Anemia 10 |
|
Microtia, Low-set ears, Choanal atresia, Hearing impairment, Atresia of the external auditory can... |
OMIM:613309 |
| Tarsal-Carpal Coalition Syndrome |
|
Short finger, Radial deviation of finger, Tarsal synostosis, Cubitus valgus, Distal symphalangism... |
OMIM:186570 |
| Proximal Symphalangism |
|
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... |
ORPHA:3250 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short nose, Wide nose, Anteverted nares, Microtia, Flat acetabular roof, Low-set ears, Wormian bo... |
OMIM:613320 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Congenital muscular tortic... |
ORPHA:2916 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Genu valgum, Bell-shaped thorax, Vertebral wedging, Pectus carinatum, Irregular f... |
OMIM:255710 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... |
OMIM:300106 |
| Diabetic Embryopathy |
|
Abnormality of the neck, Low-set, posteriorly rotated ears, Hydrocephalus, Microtia, Hearing impa... |
ORPHA:1926 |
| Brachydactyly Type B2 |
|
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... |
ORPHA:140908 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb, Finger syndacty... |
ORPHA:1825 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,... |
OMIM:300614 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Microcephaly, Microtia, Tremor |
ORPHA:370079 |
| Chromosome 4Q21 Deletion Syndrome |
|
Short philtrum, Narrow mouth, Frontal bossing, Downturned corners of mouth, Dolichocephaly, Long ... |
OMIM:613509 |
| Shox-Related Short Stature |
|
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Scoliosis, Tibial... |
ORPHA:314795 |
| Ring Chromosome 21 Syndrome |
|
Scoliosis, Narrow palm, Syndactyly, Thoracic hemivertebrae, Fused thoracic vertebrae, Clinodactyl... |
ORPHA:1445 |
| 17P13.3 Microduplication Syndrome |
|
Short nose, Low-set ears, Wide nose |
ORPHA:217385 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, H... |
ORPHA:2839 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Butterfly vertebrae, Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Short humerus,... |
OMIM:607143 |
| Craniorachischisis |
|
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida |
ORPHA:63260 |
| Burn-Mckeown Syndrome |
|
Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge |
ORPHA:1200 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Genu valgum, Clinodactyly of the 5th finger, Scoliosis, Prominent fingertip pads, Hearing impairm... |
OMIM:619721 |
| Isolated Pierre Robin Syndrome |
|
Micrognathia, Cleft palate, Glossoptosis |
ORPHA:718 |
| Femoral-Facial Syndrome |
|
Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Absent verteb... |
OMIM:134780 |
| Multiple Synostoses Syndrome 3 |
|
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... |
OMIM:612961 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Brachycephaly, Plagiocephaly, Hypotelorism, Facial asymmetry, Craniosynostosis |
ORPHA:2163 |
| Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Abnormality of the middle ear, Atresia of th... |
ORPHA:1488 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short uvula, Hypoplastic scapulae, Short lingual frenulum, Short ribs, High palate, ... |
OMIM:614091 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short nose, Limited elbow extension, Carpal bone hypoplasia, Frontal bossing, Malar f... |
OMIM:616723 |
| Liang-Wang Syndrome |
|
Gingival overgrowth, Macroglossia, Everted lower lip vermilion, Downturned corners of mouth, Macr... |
OMIM:618729 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Atresia of the external auditory canal |
OMIM:209770 |
| 2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Short philtrum, Abnormal oral frenulum morphology, Bullet-shap... |
ORPHA:1617 |
| Isotretinoin-Like Syndrome |
|
Aplasia/Hypoplasia of the inner ear, Anteverted nares, Microtia, Bilateral sensorineural hearing ... |
ORPHA:2306 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Filippi Syndrome |
|
Thin vermilion border, Short philtrum, Serrated incisors, Proptosis, Microdontia, Abnormal dental... |
OMIM:272440 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Sco... |
ORPHA:88630 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Webbed neck, Congenital muscular torticollis, Scoliosis, Low pos... |
OMIM:118100 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Myelopathy, Spinal cord compression |
OMIM:602475 |
| Congenital Sialidosis Type 2 |
|
Optic atrophy, Hydrocephalus, Gingival overgrowth, Low-set ears, Protruding tongue, Hearing impai... |
ORPHA:93400 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap... |
OMIM:135750 |
| Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Hypoplasia of the pons, Abnormal midbrain morphology |
ORPHA:280195 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Preaxial polydactyly, Ulnar bowing, Vertebral wedging, Single transverse palmar crease, 2-3 toe s... |
OMIM:617866 |
| Meier-Gorlin Syndrome 5 |
|
Small earlobe, Microtia, Low-set ears, Prominent metopic ridge, Hypoplasia of the maxilla, Microc... |
OMIM:613805 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Brachycephaly, Widely spaced teeth, Camptodactyly, Trigonocephaly, Abnormal facial shape, Microgn... |
ORPHA:459061 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calc... |
OMIM:300863 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib morphology |
OMIM:602196 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Short nose, Recurrent otitis media, Low-set ears, Conductive hearing impairment, Depressed nasal ... |
OMIM:616910 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin vermilion border, Sacral dimple, High palate, Overfolded helix, Anal atresia, Low-set ears, ... |
OMIM:613792 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short long bone, Short ribs, Dumbbell-shaped long bone, Hypoplastic... |
OMIM:228520 |
| Ectrodactyly-Polydactyly Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... |
ORPHA:1892 |
| 20Q11.2 Microduplication Syndrome |
|
Limited elbow extension, Retrognathia, Short nose, Low-set, posteriorly rotated ears, Abnormal na... |
ORPHA:363659 |
| Brachydactyly, Type B2 |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... |
OMIM:611377 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cervical ribs, Fibular aplasia, Fused cervical vertebrae, Clinodactyly of the 5th finger, Aplasia... |
ORPHA:3320 |
| Cdags Syndrome |
|
Brachycephaly, Large fontanelles, Lambdoidal craniosynostosis, Parietal foramina, Delayed cranial... |
OMIM:603116 |
| Regional Odontodysplasia |
|
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... |
ORPHA:83450 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Facial asymmetry, Plagiocephaly, Hypertelorism |
ORPHA:459074 |
| Otospondylomegaepiphyseal Dysplasia |
|
Sandal gap, Tibial bowing, Short metacarpal, Abnormally ossified vertebrae, Dumbbell-shaped femur... |
ORPHA:1427 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Brachycephaly, Long nose, Hypoplasia of the primary teeth, Large fontanelles, Thin vermilion bord... |
OMIM:257850 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Microtia, Hearing impairment, Carious teeth, Enamel hypoplasia, Cupped ear |
OMIM:620193 |
| Distal Xq28 Microduplication Syndrome |
|
Absent antihelix, Microtia, Hypoplasia of the maxilla, Microcephaly, Epistaxis, Broad nasal tip, ... |
ORPHA:293939 |
| Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hip osteoarthritis, Hyperextensibility of the finger joints, Delayed ossification of carpal bones... |
OMIM:105835 |
| Aminopterin Syndrome Sine Aminopterin |
|
Arachnodactyly, Rudimentary postaxial polydactyly of hands, Syndactyly, Brachydactyly, Umbilical ... |
OMIM:600325 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Kyphoscoliosis, Barrel-shaped chest, Arthritis, Pectus carinatum, Hypoplasia of the odontoid proc... |
OMIM:184100 |
| Isolated Arrhinia |
|
Midline defect of the nose, Microtia, Aplasia/Hypoplasia of the nasal septum, Absent nasal septal... |
ORPHA:1134 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Butterfly vertebrae, Hypoplasia of the radius, Abnormal clavicle morpholo... |
ORPHA:958 |
| Pontine Tegmental Cap Dysplasia |
|
Scoliosis, Hemivertebrae, Rib fusion, Ankle clonus |
OMIM:614688 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Brac... |
ORPHA:1436 |
| Spondyloperipheral Dysplasia |
|
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... |
OMIM:271700 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Craniosynostosis, Round face, Flexion contracture |
OMIM:619076 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Cleft palate, Low-set ears |
OMIM:616570 |
| Amelogenesis Imperfecta |
|
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... |
ORPHA:88661 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Thick lower lip vermilion, Sensorineural hearing impairment, Microtia, Mandibular prognathia, Low... |
OMIM:301040 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot... |
OMIM:263520 |
| Coffin-Siris Syndrome 7 |
|
Thick lower lip vermilion, Short philtrum, Microdontia, Trigonocephaly, Downturned corners of mou... |
OMIM:618027 |
| Weaver-Williams Syndrome |
|
Protruding ear, Cleft palate, Narrow mouth |
ORPHA:3448 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Narrow palate, Recurrent otitis media, Severe periodontitis, Premature loss of teeth, Long upper ... |
ORPHA:99843 |
| Fibrodysplasia Ossificans Progressiva |
|
Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda... |
ORPHA:337 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Abnormal thumb morphology, Triphalangeal thumb, Proxi... |
ORPHA:1120 |
| Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Exencephaly |
OMIM:614464 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Narrow greater sciatic notch, Kyphoscoliosis, Platyspondyly, Dislocated radial head, Single trans... |
OMIM:617425 |
| Slc35A2-Cdg |
|
Abnormality of the hand, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Cra... |
ORPHA:356961 |
| Otopalatodigital Syndrome Type 1 |
|
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Synostosis... |
ORPHA:90650 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Preaxial polydactyly, Low-set ears, High palate, Bilateral talipes equinovarus, Postaxial polydac... |
OMIM:618142 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Coronal craniosynostosis, Deeply set eye, Abnormal facial shape |
ORPHA:163971 |
| Phaver Syndrome |
|
Butterfly vertebrae, Triphalangeal thumb, Abnormal form of the vertebral bodies, Pterygium, Myelo... |
ORPHA:2876 |
| Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Broad metacarpals, Short phalanx of finger, Broad phalanx |
OMIM:618724 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Thoracic dysplasia, Horizontal ribs |
OMIM:615633 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Osteochondrosis, Kyphoscoliosis, Abnormal vertebral morphology, Elbow ankylosis, Short neck, Pate... |
ORPHA:96183 |
| Smith-Magenis Syndrome |
|
Abnormal middle ear morphology, Abnormal nerve conduction velocity, Mandibular prognathia, Hearin... |
OMIM:182290 |
| Hypomelanosis Of Ito |
|
Radial deviation of finger, Scoliosis, Kyphosis, Hand polydactyly, Syndactyly, Clinodactyly |
OMIM:300337 |
| Thiemann Disease |
|
Short phalanx of finger, Broad phalanx |
OMIM:165700 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Scoliosis, Hemivertebrae... |
OMIM:212780 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Atresia of the external auditory canal, Wide anterior fontanel, Wormian bones, Macrocephaly |
OMIM:601356 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplasia of the radius, Short ribs, Low-set ears, Hypoplastic ilia, Micromelia, Postaxial polyd... |
OMIM:617895 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Hearing abnormality, Microtia, Microcephaly, Micrognathia, Wide nasal bridge, Cupped ear |
ORPHA:1352 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Mucopolysaccharidosis, Type Iva |
|
Cervical myelopathy, Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elb... |
OMIM:253000 |
| Split hand/foot malformation 1 (SHFM1) |
|
Sensorineural hearing impairment, 2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger sy... |
DECIPHER:46 |
| 8Q22.1 Microdeletion Syndrome |
|
Limitation of joint mobility, Abnormality of the dentition, Hypoplasia of the maxilla, Camptodact... |
ORPHA:178303 |
| Caudal Duplication |
|
Spinal cord lesion, Myelomeningocele, Spina bifida |
ORPHA:1756 |
| Recon Progeroid Syndrome |
|
Attached earlobe, Microtia, Anteverted nares, Narrow nasal ridge, Underdeveloped nasal alae, Micr... |
OMIM:620370 |
| Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Everted lower lip vermilion, Maxillary lateral incisor microdontia,... |
ORPHA:1193 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Low-set ears, Anteverted nares, Short nose, Posteriorly rotated ears |
OMIM:618506 |
| Curry-Jones Syndrome |
|
Facial asymmetry, Craniosynostosis, Hypertelorism |
ORPHA:1553 |
| White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,... |
ORPHA:2475 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Cubitus valgus, Anteverted nares, Microtia, Limited pronation/supination of forearm, Wide nasal b... |
ORPHA:163654 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Aplasia/Hypoplasia of the external ear, Retrognathia, Wide nose, Low-set ears, Hearing impairment... |
ORPHA:505237 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Long nose, Triangular face, Bicoronal synostosis, Long face, Tracheobronchomalacia, Dental crowdi... |
OMIM:619184 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Kyphoscoliosis, Platyspondyly, Flat capital femoral epiphysis, Webbed neck, Delayed eruption of t... |
OMIM:612350 |
| Down Syndrome |
|
Narrow palate, Aganglionic megacolon, Thick lower lip vermilion, Broad neck, Narrow mouth, Abnorm... |
ORPHA:870 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Supernumerary tooth, Abnormal cranial nerve morphology, Sensorineural hearing impairment, Microti... |
ORPHA:90024 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Sacral dimple, Bifid ribs, Narrow chest, Craniosynostosis, Hyperexte... |
OMIM:213980 |
| Neuralgic Amyotrophy |
|
Redundant neck skin, Scapular winging, Sprengel anomaly, Upper limb amyotrophy, Syndactyly |
ORPHA:2901 |
| Tatton-Brown-Rahman Syndrome |
|
Talipes valgus, Thin vermilion border, Everted upper lip vermilion, Patellar subluxation, Round f... |
OMIM:615879 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na... |
OMIM:617925 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Pectus carinatum, Postaxial hand p... |
ORPHA:3082 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Adducted thumb, 11 pairs of ribs, Knee flexion contracture, Scoliosis, Elbow flexion contracture,... |
OMIM:616266 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:619553 |
| Chanarin-Dorfman Syndrome |
|
Sensorineural hearing impairment, Microtia |
OMIM:275630 |
| Sillence Syndrome |
|
Flat acetabular roof, Large iliac wing, Broad metatarsal, Broad thumb, Abnormal morphology of the... |
ORPHA:3168 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sclerosis, Crani... |
OMIM:122860 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Brachycephaly, Oligodontia, Abnormality of the dentition, Hypoplasia of the maxilla, Coronal cran... |
ORPHA:2095 |
| Achondrogenesis Type 1B |
|
Narrow chest, Short thorax, Abnormal rib morphology, Thickened nuchal skin fold, Micromelia, Cyst... |
ORPHA:93298 |
| Greenberg Dysplasia |
|
Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossification, Anterior ... |
ORPHA:1426 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Abnormal columella morphology, Microtia, Wrist flexion contracture, Micrognathia, Abnormality of ... |
ORPHA:436003 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly, Abnormal pelvic gir... |
ORPHA:1788 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... |
OMIM:268305 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Narrow greater sciatic notch, Adducted thumb, Encephalocele, Narrow chest, Short long bone, Short... |
OMIM:224400 |
| Laurin-Sandrow Syndrome |
|
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... |
ORPHA:2378 |
| Tarp Syndrome |
|
Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Meckel diverticulum, Single tra... |
OMIM:311900 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Retrognathia, Sensorineural hearing impairment, Narrow mouth, Low-set ears, Protruding tongue, De... |
OMIM:608779 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Craniosynostosis, Turricephaly |
ORPHA:1496 |
| Developmental And Epileptic Encephalopathy 31B |
|
Optic atrophy, Gingival overgrowth, Low-set ears, Protruding tongue |
OMIM:620352 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F... |
ORPHA:3329 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, B... |
OMIM:616300 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Microtia, Congenital pyloric atresia, Neonatal death, Esophageal stenosis, Oral mucosal blisters |
OMIM:619817 |
| Chiari Malformation Type Ii |
|
Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida |
OMIM:207950 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Short philtrum, Tooth malposition, Abnormal antihelix morpholo... |
ORPHA:1387 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Dislocated radial head, Atresia of the external auditory canal, Conductive hearing impairment, Mi... |
OMIM:602471 |
| 14Q11.2 Microdeletion Syndrome |
|
Short nose, Low-set, posteriorly rotated ears, Depressed nasal bridge |
ORPHA:261120 |
| Arthrogryposis, Distal, Type 3 |
|
Kyphoscoliosis, Single transverse palmar crease, Scoliosis, Ulnar deviation of the hand or of fin... |
OMIM:114300 |
| Bardet-Biedl Syndrome 19 |
|
Y-shaped metacarpals, Hearing impairment, Postaxial polydactyly, Mesoaxial hand polydactyly, Post... |
OMIM:615996 |
| Thoracopelvic Dysostosis |
|
Short ribs |
OMIM:187770 |
| Thanatophoric Dysplasia, Type I |
|
Platyspondyly, Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costocho... |
OMIM:187600 |
| Schisis Association |
|
Anencephaly, Encephalocele, Spina bifida |
ORPHA:63862 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Brachycephaly, Lambdoidal craniosynostosis, Wide anterior fontanel, Proptosis, Camptodactyly, Cor... |
OMIM:207410 |
| Orofaciodigital Syndrome Ii |
|
Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Scoliosis, Postaxi... |
OMIM:252100 |
| Joubert Syndrome 25 |
|
Cerebellar hypoplasia, Molar tooth sign on MRI |
OMIM:616781 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... |
ORPHA:166119 |
| Atelosteogenesis Type Ii |
|
Sandal gap, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Thoracic hypo... |
ORPHA:56304 |
| Cleft Lip/Palate |
|
Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Palate fistula, Bila... |
ORPHA:199306 |
| Treacher-Collins Syndrome |
|
Retrognathia, Microtia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide mouth, Ence... |
ORPHA:861 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Abnormality of the... |
ORPHA:2234 |
| Hennekam-Beemer Syndrome |
|
Optic atrophy, Long nose, Wide nose, Microtia, Delayed cranial suture closure, Hearing impairment... |
ORPHA:2135 |
| Okur-Chung Neurodevelopmental Syndrome |
|
High palate, Low-set ears, Protruding tongue, Thin upper lip vermilion, Micrognathia, Simplified ... |
OMIM:617062 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Frontal bossing, Micrognathia, Craniosynostosis, Downturned corners of mouth |
ORPHA:1064 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Scoliosis, Clinodactyly, Syndactyly |
OMIM:619091 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Genu recurvatum, Short metacar... |
OMIM:151200 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic ilia... |
ORPHA:96334 |
| Heart-Hand Syndrome Type 2 |
|
Abnormal palate morphology, Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder mor... |
ORPHA:1350 |
| X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft of the upper lip, Scoliosis, Hearing impairment, Cleft palate, Protruding ear |
ORPHA:85273 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Dental crowding, Sensorineural hearing impairment, Mandibular prognathia, Protruding ear, Branchi... |
ORPHA:435938 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal... |
ORPHA:319675 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H... |
OMIM:147750 |
| Larsen Syndrome |
|
Multiple carpal ossification centers, Spondylolysis, Pectus carinatum, Short metacarpal, Pectus e... |
OMIM:150250 |
| Greenberg Dysplasia |
|
Short long bone, Short ribs, Short metacarpal, Mesomelia, Hypoplastic vertebral bodies, Thoracic ... |
OMIM:215140 |
| Developmental And Epileptic Encephalopathy 73 |
|
Sensorineural hearing impairment, Short nose, Narrow nasal bridge |
OMIM:618379 |
| Meckel Syndrome 13 |
|
Occipital encephalocele, Molar tooth sign on MRI |
OMIM:617562 |
| Apert Syndrome |
|
Limited elbow movement, Proptosis, Brachyturricephaly, Shallow orbits, Bifid uvula, Craniosynosto... |
OMIM:101200 |
| Aicardi Syndrome |
|
Butterfly vertebrae, Scoliosis, Missing ribs, Rib fusion, Supernumerary ribs, Block vertebrae, Bi... |
ORPHA:50 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Sensorineural hearing impairment, Enlarged epiphyses, Epiphyseal dysplasia, Pierre-Robin sequence... |
OMIM:184840 |
| Acropectorovertebral Dysplasia |
|
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Pectus exc... |
ORPHA:957 |
| Buratti-Harel Syndrome |
|
Microtia, High palate, Low-set ears, Velopharyngeal insufficiency, Bifid uvula, Posteriorly rotat... |
OMIM:619314 |
| Chst3-Related Skeletal Dysplasia |
|
Kyphoscoliosis, Genu valgum, Irregular epiphyses, Rhizomelia, Small epiphyses, Delayed eruption o... |
ORPHA:263463 |
| Joubert Syndrome 37 |
|
Broad neck, Low-set ears, High palate, Postaxial polydactyly, Posteriorly rotated ears, Lumbar hy... |
OMIM:619185 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal hip bone morphology, Webbed neck, Slender long bone, Abnormal form of the vertebral bodi... |
ORPHA:1486 |
| Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Thin ribs, Scoliosis |
OMIM:615220 |
| Meier-Gorlin Syndrome 2 |
|
Abnormal pinna morphology, Microtia, Microcephaly, Micrognathia, Patellar aplasia, Underdeveloped... |
OMIM:613800 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... |
OMIM:609945 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Sensorineural hearing impairment, Low-set ears, Abnormality of the mid... |
ORPHA:2789 |
| Acrootoocular Syndrome |
|
Grayish enamel, Supernumerary tooth, Wide nasal base, Abnormal earlobe morphology, Delayed erupti... |
ORPHA:2980 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Short nose, Aganglionic megacolon, Macrocephaly, Microtia, Mandibular prognathia, Low-set ears, M... |
OMIM:613603 |
| Cog1-Cdg |
|
Kyphoscoliosis, Butterfly vertebrae, Broad neck, Rhizomelia, Talipes equinovarus, Short long bone... |
ORPHA:263508 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Melnick-Needles Syndrome |
|
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Narrow chest, Co... |
ORPHA:2484 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Short long bone, Femoral bowing, Hyperlordosis, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu... |
OMIM:618019 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Kyphoscoliosis, Flared iliac wing, Flattened epiphysis, Wormian bones, Broad palm, Short finger, ... |
OMIM:300232 |
| Van Maldergem Syndrome 2 |
|
Sensorineural hearing impairment, Microtia, Stenosis of the external auditory canal, High palate,... |
OMIM:615546 |
| Femur-Fibula-Ulna Complex |
|
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... |
ORPHA:2019 |
| Cranioectodermal Dysplasia 4 |
|
Thin vermilion border, Frontal bossing, Smooth philtrum, Joint hypermobility, Sagittal craniosyno... |
OMIM:614378 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Low-set, posteriorly rotated ears |
ORPHA:2370 |
| Bazex-Dupré-Christol Syndrome |
|
Macrotia, Hypoplasia of the ear cartilage |
ORPHA:113 |
| Pendred Syndrome |
|
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation |
OMIM:274600 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Clinodactyly of the 5th finger, Increased nuchal translucency, Rib fu... |
ORPHA:544488 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Abnormal rib morphol... |
ORPHA:2180 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Split foot, Cleft palate, Abnormality of the ear, Toe syndactyly |
OMIM:183700 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Carpal bone aplasia, Oligodactyly, Short humerus, Absent thumb, Absent ra... |
OMIM:218600 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Fused cervical vertebrae, Hyperlordosis, Pectus excavatum, Abnormal... |
ORPHA:2522 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Hearing impairment, Atresia of the external auditory canal, Aganglionic megacolon, Abnormal auton... |
OMIM:243180 |
| Acrofacial Dysostosis, Weyers Type |
|
Tessier cleft, Advanced eruption of teeth, Solitary median maxillary central incisor, Clinodactyl... |
ORPHA:952 |
| Abruzzo-Erickson Syndrome |
|
Hearing impairment, Macrotia, Protruding ear, Cleft palate |
OMIM:302905 |
| Meier-Gorlin Syndrome 6 |
|
Short nose, Stenosis of the external auditory canal, Microtia, Anteverted nares, Underdeveloped n... |
OMIM:616835 |
| Cebalid Syndrome |
|
Short nose, Anteverted nares, Abnormal pinna morphology, Low-set ears, Depressed nasal ridge, Hea... |
OMIM:618774 |
| Gorham-Stout Disease |
|
Mandibular pain, Abnormal ethmoid bone morphology, Abnormality of the temporomandibular joint, Ab... |
ORPHA:73 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Narrow palate, Turricephaly, Cloverleaf skull, Proptosis, Narrow mouth, Tooth agenesis, Dolichoce... |
ORPHA:1555 |
| Usher Syndrome, Type Ig |
|
Sensorineural hearing impairment, Hypoplasia of the nasal bone, Abnormal vestibular function |
OMIM:606943 |
| Verheij Syndrome |
|
Short 5th finger, Scoliosis, Hemivertebrae, Branchial cyst, Vertebral fusion, Short neck, Clinoda... |
OMIM:615583 |
| Sheldon-Hall Syndrome |
|
Bilateral single transverse palmar creases, Adducted thumb, Tarsal synostosis, Abnormal hip bone ... |
ORPHA:1147 |
| Microphthalmia With Limb Anomalies |
|
Metatarsal synostosis, Fibular hypoplasia, Sacral dimple, 2-3 toe cutaneous syndactyly, Pes valgu... |
OMIM:206920 |
| 3M Syndrome |
|
Rocker bottom foot, Hyperlordosis, Enlarged thorax, Kyphosis, Hypoplastic ischia, Hypoplastic pel... |
ORPHA:2616 |
| Hamamy Syndrome |
|
Brachycephaly, Osteopenia, Hypodontia, Recurrent fractures, Neck pterygia, High palate, Everted l... |
OMIM:611174 |
| Rhizomelic Syndrome, Urbach Type |
|
Rhizomelia, Triphalangeal thumb, Abnormal form of the vertebral bodies, Abnormality of the elbow,... |
ORPHA:3098 |
| Cleft Velum |
|
Recurrent otitis media, Cleft soft palate, Hypoplasia of the maxilla, Conductive hearing impairme... |
ORPHA:99772 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Cubitus valgus, Metaphyseal striations, Slender long bones with narrow diaphyses, Sh... |
OMIM:608154 |
| Fetal Akinesia Deformation Sequence 2 |
|
Broad neck, Low-set ears, High palate, Micrognathia, Cleft palate, Tented upper lip vermilion |
OMIM:618388 |
| Ruvalcaba Syndrome |
|
Clinodactyly of the 5th finger, Proximal placement of thumb, Narrow chest, Abnormal vertebral epi... |
ORPHA:3121 |
| Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Oligodactyly, Clinodactyly of the 5th finger, Short foot, Umbilical hernia |
OMIM:619758 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... |
OMIM:620663 |
| 3Q29 Microdeletion Syndrome |
|
Orofacial cleft, Clinodactyly of the 5th finger, Short philtrum, Dental crowding, High palate, Ab... |
ORPHA:65286 |
| Diprosopus |
|
Non-midline cleft of the upper lip, Abnormal pinna morphology, Cleft palate, Anencephaly |
ORPHA:1681 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Synostosis of carpals/tarsals, Short nose, Abnormality of canine, Tarsal synostosis, Tooth malpos... |
ORPHA:363417 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Short nose, Plagiocephaly, Anterior plagiocephaly, Cleft palate, Tented upper lip vermilion, Left... |
OMIM:614749 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Oromandibular dystonia, Microtia, Mandibular prognathia, Tremor, Finger joint contracture, Depres... |
OMIM:620494 |
| Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... |
ORPHA:2639 |
| 3Q29 Microduplication Syndrome |
|
Large fontanelles, High palate, Abnormality of the dentition, Biparietal narrowing, Camptodactyly... |
ORPHA:251038 |
| Aicardi Syndrome |
|
Butterfly vertebrae, Scoliosis, Hemivertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Bloc... |
OMIM:304050 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Sensorineural hearing impairment, Glossoptosis, Micrognathia, Cleft palate, Long philtrum |
ORPHA:166100 |
| Mast Cell Sarcoma |
|
Hypoplasia of the ear cartilage |
ORPHA:66661 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... |
ORPHA:93409 |
| 3Mc Syndrome 2 |
|
Limited elbow movement, High palate, Cleft upper lip, Downturned corners of mouth, Cleft palate, ... |
OMIM:265050 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short 5th finger, Postaxial hand polydactyly, Short thumb, Short 2nd toe |
OMIM:176305 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... |
ORPHA:3035 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short nose, Short nasal septum, Anosmia, Hearing impairment, Depressed nasal bridge |
OMIM:302950 |
| Meckel Syndrome, Type 4 |
|
Molar tooth sign on MRI, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Intrauterine gro... |
OMIM:611134 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Absent scaphoid, Dis... |
OMIM:606895 |
| Weismann-Netter Syndrome |
|
Fibular bowing, Anterior tibial bowing, Scoliosis, Horizontal sacrum, Kyphosis, Lateral femoral b... |
OMIM:112350 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Increased bone mineral density, Carious ... |
OMIM:259700 |
| Clark-Baraitser Syndrome |
|
Short nose, Low hanging columella, Anteverted nares, Low-set ears, Large earlobe, Depressed nasal... |
OMIM:617752 |
| Achondrogenesis Type 1A |
|
Narrow chest, Short thorax, Thickened nuchal skin fold, Micromelia, Short palm, Multiple rib frac... |
ORPHA:93299 |
| Fibrochondrogenesis |
|
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... |
ORPHA:2021 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Widely spaced teeth, Short philtrum, Microtia, High palate, Low-set ears, Cleft upper lip, Cleft ... |
OMIM:612530 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Recurrent otitis media, High palate, Glossoptosis, Low-set ears, Hearing impairment, Micrognathia... |
OMIM:613604 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Secondary microcephaly, Retrognathia, Short columella, Short nose, Microtia, Mandibular prognathi... |
OMIM:156200 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Webbed... |
OMIM:178110 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Aplasia/Hypoplasia involving the nose, Sensorineural hearing impairment, Depressed na... |
ORPHA:1529 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Thoracic kyphosis, Pectus excavatum, Arachnodactyly, Syndactyly, Clinodactyly |
OMIM:619092 |
| Chromosome 10Q26 Deletion Syndrome |
|
Limited elbow extension, Long philtrum, Triangular face, High palate, Congenital hip dislocation,... |
OMIM:609625 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Pes planus, Scoliosis, Syndactyly, Distal lower limb muscle weakness |
OMIM:615284 |
| Deafness, Autosomal Dominant 80 |
|
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... |
OMIM:619274 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... |
ORPHA:1275 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Sh... |
OMIM:271665 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Narrow greater sciatic notch, Rhizomelia, Platyspondyly, Flared metaphysis, Scoliosis, Short long... |
ORPHA:85167 |
| Mosaic Trisomy 20 |
|
Retrognathia, Fused cervical vertebrae, Limited pronation/supination of forearm, Micrognathia, Cr... |
ORPHA:1724 |
| 15Q Overgrowth Syndrome |
|
Retrognathia, Turricephaly, Dental crowding, Abnormality of the incisor, Bifid uvula, Contracture... |
ORPHA:314585 |
| Distal Triplication 15Q |
|
Retrognathia, Sensorineural hearing impairment, Abnormal helix morphology, Microtia, Low-set ears... |
ORPHA:314588 |
| Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Encephalocele |
OMIM:614465 |
| Dentin Dysplasia, Type I |
|
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... |
OMIM:125400 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal metaphysis morphology, Genu valgum, Platyspondyly, Joint dislocation, Short thorax, Pect... |
ORPHA:582 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... |
ORPHA:85188 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Abnormal cartilage matrix, Flared metaphysis, Wide anterior fontanel... |
ORPHA:2347 |
| Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Cutaneous finger syndactyly, Thoracic kyphoscoliosis, Short middle phalanx of the 5th finger, Hip... |
OMIM:203550 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Molar tooth sign on MRI, Anencephaly |
OMIM:614120 |
| Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly, Occipital encephalocele |
OMIM:213010 |
| Orofaciodigital Syndrome Xix |
|
Narrow palate, Retrognathia, Cleft soft palate, Midline notching of lower lip, High palate, Narro... |
OMIM:620107 |
| Kbg Syndrome |
|
Webbed neck, Single transverse palmar crease, Scoliosis, Thoracic kyphosis, Cutaneous syndactyly,... |
ORPHA:2332 |
| Robinow Syndrome |
|
Kyphoscoliosis, Fused thoracic vertebrae, Mesomelic arm shortening, Scoliosis, Hemivertebrae, Mar... |
ORPHA:97360 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Scoliosis, Low-set ears, High palate, Cleft palate, Open mouth, Overlapping toe |
OMIM:620021 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ... |
OMIM:225280 |
| Cantú Syndrome |
|
Abnormal metaphysis morphology, Platyspondyly, Narrow chest, Short hallux, Finger syndactyly, Cub... |
ORPHA:1517 |
| Holt-Oram Syndrome |
|
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus... |
OMIM:142900 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger |
OMIM:313350 |
| Cerebrooculonasal Syndrome |
|
Brachycephaly, Short nose, Narrow palate, Solitary median maxillary central incisor, Proboscis, H... |
OMIM:605627 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Beaking of vertebral bodies, Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypo... |
OMIM:215150 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Abnormal vertebral morphology, Hypoplastic pubic ramus, Short hallux, Abnormality ... |
ORPHA:280 |
| Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Axillary pterygium, Ulnar bowing, Pterygium, Hypoplastic iliac wing, Oligoda... |
OMIM:263650 |
| Joubert Syndrome 1 |
|
Low-set ears, Protruding tongue, Occipital myelomeningocele, Optic disc coloboma, Triangular-shap... |
OMIM:213300 |
| Choanal Atresia |
|
Craniosynostosis, Chronic sinusitis, Tracheomalacia |
ORPHA:137914 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal ri... |
ORPHA:2759 |
| Fontaine Progeroid Syndrome |
|
Retrognathia, Everted lower lip vermilion, Microdontia, Low posterior hairline, Death in infancy,... |
OMIM:612289 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Gingival overgrowth, Macrotia, Micrognathia, Cleft palate, Protruding ear |
ORPHA:2013 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Long toe, Thoracic kyphosis, Low posterior hairline, Arachnodactyly, Cleft palate, Large hands, C... |
OMIM:300263 |
| Ritscher-Schinzel Syndrome 2 |
|
Broad neck, Short philtrum, Wide anterior fontanel, High palate, Low posterior hairline, Protrudi... |
OMIM:300963 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Brachycephaly, Short nose, Osteopenia, Lambdoidal craniosynostosis, High palate, Abnormality of t... |
OMIM:615398 |
| Galloway-Mowat Syndrome |
|
Microcephaly, Camptodactyly of finger, Macrotia, Micrognathia, Hypoplasia of the ear cartilage, E... |
ORPHA:2065 |
| Thomas Syndrome |
|
Cleft upper lip, Cleft palate, Dolichocephaly, Hypertelorism |
ORPHA:3316 |
| Achondrogenesis, Type Ii |
|
Short tubular bones of the hand, Stillbirth, Barrel-shaped chest, Hypoplastic iliac wing, Short l... |
OMIM:200610 |
| Weaver Syndrome |
|
Abnormal metaphysis morphology, Pes cavus, Sandal gap, Finger syndactyly, Scoliosis, Broad thumb,... |
ORPHA:3447 |
| Frontonasal Dysplasia 2 |
|
Brachycephaly, Widely spaced teeth, Conical tooth, Parietal foramina, Anterior plagiocephaly, Hyp... |
OMIM:613451 |
| Dentinogenesis Imperfecta |
|
Fragile teeth, Grayish enamel, Joint hypermobility, Yellow-brown discoloration of the teeth, Abno... |
ORPHA:49042 |
| Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Abnormal foot bone ossification, Broad clavicles, Abnormal hand bone ossifica... |
OMIM:200600 |
| Epiphyseal Dysplasia, Baumann Type |
|
Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypoplasia of the femoral head,... |
OMIM:610797 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Plagiocephaly, Short philtrum, Mandibular prognathia, Downturned corners of mouth, Cleft palate, ... |
ORPHA:94066 |
| Tetramelic Monodactyly |
|
Split foot, Foot monodactyly, Split hand, Hand monodactyly |
OMIM:187510 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Narrow palate, Genu valgum, Dislocated radial head, Genu recurvatum, Wide anterior fo... |
OMIM:182212 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Stillbirth, Redundant neck skin, Clinodactyly of the 5th finger, Hydranencephaly, Single transver... |
OMIM:236500 |
| Omodysplasia 1 |
|
Limited elbow extension, Popliteal pterygium, Fibular hypoplasia, Limited elbow flexion/extension... |
OMIM:258315 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Short nose, Sensorineural hearing impairment, Anteverted nares, Low-set ears, Posteriorly rotated... |
OMIM:614744 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly |
OMIM:258865 |
| Fg Syndrome Type 1 |
|
Macrocephaly, Sensorineural hearing impairment, Microtia, Optic nerve hypoplasia, Stenosis of the... |
ORPHA:93932 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Fused cervical vertebrae, Webbed neck, Scoliosis, Absent phalangeal crease, An... |
OMIM:618469 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Pectus carinatum, Scoliosis, Short ribs, Pectus excavatum, Missing ribs |
OMIM:618155 |
| Teebi Hypertelorism Syndrome 2 |
|
Short nose, Delayed eruption of teeth, Wide anterior fontanel, Proptosis, Everted lower lip vermi... |
OMIM:619736 |
| Kagami-Ogata Syndrome |
|
Retrognathia, Anteverted nares, Microtia, Hypoplasia of the maxilla, Micrognathia, Depressed nasa... |
OMIM:608149 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metatarsal, Short metacarpal, Short phalanx of finger, Spinal canal stenosis, Brachydactyly... |
OMIM:614613 |
| Chromosome 15Q14 Deletion Syndrome |
|
Short philtrum, Low-set ears, Everted lower lip vermilion, Cleft palate, Posteriorly rotated ears... |
OMIM:616898 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... |
OMIM:250220 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Short nose, Prominent nasal bridge, Posteriorly rotated ears, Bulbous nose, Cupped ear |
OMIM:613870 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Abnormal hip bone morphology, Finger syndactyly, Scoliosis, Hyperlordosis, Vertebral segmentation... |
ORPHA:1323 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu... |
OMIM:259600 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short long bone, Hyperlordosis, Thoracic hypoplasia, Metaphyseal irregularity, Abnormal epiphysis... |
ORPHA:93352 |
| Fatco Syndrome |
|
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... |
ORPHA:2492 |
| 1P31P32 Microdeletion Syndrome |
|
Frontal bossing, Craniosynostosis |
ORPHA:401986 |
| Brachydactyly, Type A1, C |
|
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... |
OMIM:615072 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Abnorm... |
OMIM:144750 |
| Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal rib morphology, Dea... |
ORPHA:1318 |
| Dermotrichic Syndrome |
|
Macrotia, Short nose, Depressed nasal bridge |
ORPHA:99688 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Kyphoscoliosis, Narrow greater sciatic notch, Short iliac bones, Abnormality of the wrist, Abnorm... |
ORPHA:93316 |
| Eiken Syndrome |
|
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Erupti... |
OMIM:600002 |
| Cole-Carpenter Syndrome |
|
Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Delay... |
ORPHA:2050 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Cervical myelopathy, Delayed pubic bone ossification, Platyspondyly, Dela... |
OMIM:183900 |
| Pelger-Huet Anomaly |
|
Polydactyly, Short 4th metacarpal, Recurrent otitis media, Upper limb undergrowth, Gingival overg... |
OMIM:169400 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Multiple joint dislocation, Dislocated radial head, Proptosis, Microdontia, Generalized osteoporo... |
OMIM:245600 |
| Branchiootic Syndrome 2 |
|
Hearing impairment, Abnormal pinna morphology |
OMIM:120502 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Secondary microcephaly, Generalized dystonia, Hypsarrhythmia, Anteverted nares, Microtia, Low-set... |
OMIM:618076 |
| Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Lo... |
OMIM:136760 |
| Opitz-Kaveggia Syndrome |
|
Dental crowding, Sensorineural hearing impairment, Intestinal malrotation, Microtia, first degree... |
OMIM:305450 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Cervical ribs |
ORPHA:66630 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Occipital encephalocele, Encephalocele, Low-set ears, Cleft upper lip, Cleft palate,... |
OMIM:613885 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Narrow greater sciatic notch, Bell-shaped thorax, Vertebral compression fracture, Flared metaphys... |
OMIM:602557 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
| Aarskog-Scott Syndrome |
|
Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger syndactyly, Single transverse p... |
ORPHA:915 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Bilateral single transverse palmar creases, Kyphoscoliosis, Multiple carpal ossification centers,... |
OMIM:143095 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Protruding ear, Short nose |
ORPHA:1495 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
| Joubert Syndrome 7 |
|
Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem, Encephalocele |
OMIM:611560 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Macrocephaly, Low hanging columella, Microtia, Mandibular prognathia, Low-set ears, Microcephaly,... |
OMIM:614813 |
| 19P13.12 Microdeletion Syndrome |
|
Brachycephaly, Thin vermilion border, Hypodontia, Proptosis, Cleft palate, Long philtrum, Cranios... |
ORPHA:254346 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Bell-shaped thorax, Distal clavicular thinning, Narrow chest, Short metacarpal, Micromelia, Short... |
OMIM:600092 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retrognathia, Death in childhood, Encephalocele, Hydrocephalus, Optic nerve hypoplasia, Microtia,... |
OMIM:614643 |
| Treacher Collins Syndrome 4 |
|
Conductive hearing impairment, Micrognathia, Cleft palate |
OMIM:618939 |
| Arthrogryposis, Distal, Type 5D |
|
Limited elbow movement, Adducted thumb, Scoliosis, Hyperlordosis, Elbow flexion contracture, Calc... |
OMIM:615065 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal earlobe morphology, Abnormal pinna morphology, Short metacarpal, Broad femoral neck, Abn... |
ORPHA:93307 |
| Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Low-set ears, Postaxial hand polydactyly, Microdontia, Kyphosis, Short stern... |
OMIM:258850 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Single transverse ... |
OMIM:227270 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Short nose, Triangular face, Hypotelorism, Long face, Narrow mouth, Frontal bossing, Micrognathia... |
OMIM:614114 |
| Fetal Trimethadione Syndrome |
|
Short nose, Abnormal helix morphology, Low-set ears, Overfolded helix, Depressed nasal bridge |
ORPHA:1913 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose |
OMIM:300577 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Increased bone mineral density |
OMIM:616943 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Limited elbow extension, Kyphoscoliosis, Genu valgum, Rhizomelia, Flat capital femoral epiphysis,... |
OMIM:271510 |
| Trisomy 8Q |
|
Orofacial cleft, Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip, High pala... |
ORPHA:1752 |
| Perlman Syndrome |
|
Short nose, Anteverted nares, Low-set ears, Posteriorly rotated ears, Thickened helices, Wide nas... |
ORPHA:2849 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Popliteal pterygium, Stillbirth, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus... |
OMIM:119800 |
| Cerebrofacioarticular Syndrome |
|
Bilateral choanal atresia/stenosis, Microtia, Hypoplasia of the maxilla, Conductive hearing impai... |
ORPHA:314679 |
| Terminal Osseous Dysplasia |
|
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormality of the lower limb, Camptod... |
OMIM:300244 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Agnathia-Otocephaly Complex |
|
Synotia, Narrow mouth, Low-set ears, Mandibular aplasia, Conductive hearing impairment, Micrognat... |
OMIM:202650 |
| Nablus Mask-Like Facial Syndrome |
|
Retrognathia, Short nose, High palate, Everted lower lip vermilion, Camptodactyly, Abnormality of... |
OMIM:608156 |
| Ollier Disease |
|
Abnormal metaphysis morphology, Micromelia, Abnormal cartilage morphology, Multiple enchondromato... |
ORPHA:296 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... |
OMIM:271640 |
| Joubert Syndrome 9 |
|
Molar tooth sign on MRI, Encephalocele |
OMIM:612285 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology |
ORPHA:261272 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal palate morphology, Abnormality of fontanelles, Narrow mouth, Congenital hip dislocation,... |
ORPHA:2412 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... |
ORPHA:2634 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... |
OMIM:276820 |
| 9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Downturned corners of mouth, Abnormal tongue morphology |
ORPHA:531151 |
| Frank-Ter Haar Syndrome |
|
Short philtrum, Delayed eruption of teeth, Genu recurvatum, Premature loss of teeth, Mandibular p... |
ORPHA:137834 |
| Split-Hand/Foot Malformation 3 |
|
Abnormal pinna morphology, High palate, Narrow mouth, Hypoplasia of the maxilla, Cleft palate, Mi... |
OMIM:246560 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Thin vermilion border, Incisor macrodontia, Narrow mouth, Cleft palate, Long philtrum, Hypertelorism |
OMIM:615502 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint hypermobility, Joint dislocation, Dislocated radial head, Genu recurvatum, Recu... |
OMIM:130070 |
| Cardiospondylocarpofacial Syndrome |
|
Abnormal form of the vertebral bodies, Synostosis of carpal bones, Short palm, Failure of eruptio... |
ORPHA:3238 |
| Mucopolysaccharidosis, Type Ivb |
|
Cervical myelopathy, Genu valgum, Platyspondyly, Scoliosis, Hyperlordosis, Prominent sternum, Kyp... |
OMIM:253010 |
| Meier-Gorlin Syndrome 3 |
|
Patellar hypoplasia, Aplasia/Hypoplasia of the patella, Microtia, Low-set ears, Hypoplasia of the... |
OMIM:613803 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Brachycephaly, Narrow palate, Short philtrum, Genu recurvatum, Mandibular prognathia, Short upper... |
ORPHA:364028 |
| Bardet-Biedl Syndrome 16 |
|
Hearing impairment, Polydactyly, Recurrent otitis media |
OMIM:615993 |
| Ring Chromosome 12 Syndrome |
|
Microtia, Low-set ears, Symphalangism of the thumb, Microcephaly, Acne |
ORPHA:1439 |
| Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
| Kniest Dysplasia |
|
Rhizomelia, Flared metaphysis, Splayed epiphyses, Delayed epiphyseal ossification, Tibial bowing,... |
OMIM:156550 |
| Anophthalmia Plus Syndrome |
|
Tessier cleft, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Non-midline... |
ORPHA:1104 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Brachycephaly, Short nose, Abnormality of cranial sutures, Abnormal bone ossification, Long philt... |
ORPHA:163649 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S... |
OMIM:611263 |
| Larsen-Like Syndrome |
|
Kyphoscoliosis, Clinodactyly of the 5th finger, Joint dislocation, Radial deviation of the 4th fi... |
OMIM:608545 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Polyarticular arthritis, ... |
ORPHA:289176 |
| Orofaciodigital Syndrome Xv |
|
Low-set ears, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe... |
OMIM:617127 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Everted lower lip vermilion, Protruding tongue, Hearing impairment, Downturned corners of mouth, ... |
ORPHA:96147 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Abnormal metacarpal morphology, Split foot, Aplasia/Hypoplasia of the distal phalanges of the toe... |
ORPHA:1113 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Sacral dimple, Scoliosis, Low-set ears, Abnormality of the dentition, Anal atresia, Short foot, H... |
OMIM:300968 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Hypoplastic helices, Finger syndactyly, Wide anterior fontanel, Abnormal pinna morph... |
ORPHA:313781 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Synotia, Abnormal cranial nerve morphology, Mandibular aplasia... |
ORPHA:990 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... |
ORPHA:85170 |
| Developmental And Epileptic Encephalopathy 66 |
|
Widely spaced teeth, Coarse facial features, Everted lower lip vermilion, Downturned corners of m... |
OMIM:618067 |
| Weaver Syndrome |
|
Radial deviation of finger, Hypoplastic iliac wing, Prominent fingertip pads, Short ribs, Limited... |
OMIM:277590 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... |
OMIM:119100 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Short nose, Uplifted earlobe |
OMIM:300143 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Scoliosis, Hemivertebrae, Abnormal pinna morpho... |
OMIM:302960 |
| Distal Deletion 10Q |
|
Brachycephaly, Short nose, Triangular face, Hypotelorism, Proptosis, High palate, Prominent metop... |
ORPHA:96148 |
| Ohdo Syndrome, X-Linked |
|
Stenosis of the external auditory canal, Microtia, Low-set ears, Hearing impairment, Micrognathia... |
OMIM:300895 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Large earlobe, Short nose, Broad nasal tip, Wide nasal bridge |
OMIM:615716 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Plagiocephaly, Abnormal facial shape, Downturned corners of mouth, Cleft palate, Microretrognathi... |
ORPHA:457193 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middle phalanx of finger, Tho... |
OMIM:309620 |
| Al-Gazali-Bakalinova Syndrome |
|
Polydactyly, Genu valgum, Triangular mouth, Low-set ears, Tapered finger, Epiphyseal dysplasia, F... |
OMIM:607131 |
| Melkersson-Rosenthal Syndrome |
|
Facial palsy, Furrowed tongue |
OMIM:155900 |
| Seckel Syndrome |
|
Abnormal dental enamel morphology, Narrow face, Tooth agenesis, Micrognathia, Joint hypermobility... |
ORPHA:808 |
| Endocrine-Cerebroosteodysplasia |
|
Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Talipes equinovarus, Single t... |
OMIM:612651 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Branchial anomaly, Oligodontia, Abnormal helix morphology, High palate, Furrowed tongue, Abnormal... |
ORPHA:453499 |
| Osteogenesis Imperfecta, Type Ii |
|
Bell-shaped thorax, Crumpled long bones, Thin ribs, Tibial bowing, Wormian bones, Abnormal pelvic... |
OMIM:166210 |
| Pentasomy X |
|
Plagiocephaly, Camptodactyly of finger, Micrognathia, Radioulnar synostosis, Hypertelorism, Wide ... |
ORPHA:11 |
| X-Linked Intellectual Disability, Hedera Type |
|
Scoliosis, Calcaneovalgus deformity, Absent Achilles reflex, Hyporeflexia of lower limbs, Pes pla... |
ORPHA:93952 |
| Vertical Talus, Congenital |
|
Rocker bottom foot, Arthritis, Equinus calcaneus, Calcaneovalgus deformity |
OMIM:192950 |
| Gaucher Disease, Perinatal Lethal |
|
Retrognathia, Short nose, Anteverted nares, Microtia, Low-set ears, Microcephaly, Micrognathia, O... |
OMIM:608013 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal |
OMIM:112410 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Temporomandibular joint ankylosis, Micrognathia, Cleft palate, Microglossia |
ORPHA:141152 |
| Tarp Syndrome |
|
Rocker bottom foot, Small earlobe, Glossoptosis, Abnormal duodenum morphology, Tongue nodules, Cl... |
ORPHA:2886 |
| Ophthalmomandibulomelic Dysplasia |
|
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... |
OMIM:164900 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Oligodactyly, Ectrodactyly |
ORPHA:3016 |
| Acrorenal-Mandibular Syndrome |
|
Kyphoscoliosis, Butterfly vertebrae, Hypoplasia of the radius, Hypoplasia of the ulna, Narrow che... |
OMIM:200980 |
| 7Q31 Microdeletion Syndrome |
|
Macrocephaly, Childhood onset sensorineural hearing impairment, Torticollis, Low-set ears, Promin... |
ORPHA:251061 |
| Arthrogryposis, Distal, Type 4 |
|
Tibial deviation of toes, Torticollis, Camptodactyly of 2nd-5th fingers, Single transverse palmar... |
OMIM:609128 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Short nose, Anteverted nares, Low-set ears, Recurrent upper respiratory tract infections, Depress... |
OMIM:614069 |
| Blount Disease |
|
Osteochondrosis, Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the ... |
ORPHA:2768 |
| Cleft Palate, Deafness, And Oligodontia |
|
Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate, Bilateral conductiv... |
OMIM:216300 |
| Houge-Janssens Syndrome 2 |
|
Scoliosis, Postaxial polydactyly, Broad hallux, Tented upper lip vermilion, Open mouth, Hip dyspl... |
OMIM:616362 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Kyphoscoliosis, Talipes equinovarus, Flared metaphysis, Dysplasia of the femoral head, Bowing of ... |
OMIM:615349 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Ankle swelling, Wrist swelling, Metacarpal osteolysis, Pes cavus, Carpal osteolysis, Ulnar deviat... |
OMIM:166300 |
| Saul-Wilson Syndrome |
|
Short metatarsal, Madelung deformity, Cone-shaped epiphyses of the phalanges of the hand, Flared ... |
OMIM:618150 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax... |
OMIM:615986 |
| Microtriplication 11Q24.1 |
|
Genu valgum, Clinodactyly of the 5th finger, Short philtrum, Attached earlobe, Scoliosis, Hearing... |
ORPHA:289522 |
| Scarf Syndrome |
|
Long philtrum, Enamel hypoplasia, Joint hypermobility, Craniosynostosis, Coarse facial features, ... |
ORPHA:3134 |
| Poland Syndrome |
|
Aplasia of the pectoralis major muscle, Asymmetry of the thorax, Abnormal sternum morphology, Pec... |
ORPHA:2911 |
| Axial Mesodermal Dysplasia Spectrum |
|
Microtia, Micrognathia, Abnormality of the knee |
ORPHA:1834 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... |
ORPHA:988 |
| Saethre-Chotzen Syndrome |
|
Brachycephaly, Plagiocephaly, Long nose, Lambdoidal craniosynostosis, Narrow palate, Facial asymm... |
OMIM:101400 |
| Kyphomelic Dysplasia |
|
Lateral clavicle hook, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, P... |
OMIM:211350 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Short neck, Clinodactyly |
ORPHA:251046 |
| Moebius Syndrome |
|
Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Sh... |
OMIM:157900 |
| Cornelia De Lange Syndrome 6 |
|
Clinodactyly of the 5th finger, Pectus carinatum, Scoliosis, Arachnodactyly, Short palm, Posterio... |
OMIM:620568 |
| Hypoglossia With Situs Inversus |
|
Narrow mouth, High palate, Low-set ears, Micrognathia, Microglossia, Hypodontia |
OMIM:612776 |
| Hypophosphatasia, Infantile |
|
Unossified vertebral bodies, Abnormality of the dentition, Decreased calvarial ossification, Cran... |
OMIM:241500 |
| Chung-Jansen Syndrome |
|
Large earlobe, Macrotia, Short nose, Anteverted nares |
OMIM:617991 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Plagiocephaly, Short lingual frenulum, High palate, Vertical orbital dystopia, Wide mouth, Cranio... |
ORPHA:1521 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Pectus carinatum, Hyperlordosis, Short metacarpal, Tarsal synostosis, Bowed humerus, Scoliosis, B... |
OMIM:272460 |
| Mesomelia-Synostoses Syndrome |
|
Abnormal femur morphology, Mesomelia, Umbilical hernia, Abnormality of the hand, Abnormal tibia m... |
ORPHA:2496 |
| Mycophenolate Mofetil Embryopathy |
|
Microtia, Hearing impairment, Atresia of the external auditory canal, Micrognathia, Bifid nose, A... |
ORPHA:268249 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal metacarpal morphology, Congenital muscular torticollis, Abnormal finger morphology, Olig... |
ORPHA:2538 |
| Opsismodysplasia |
|
Posterior rib cupping, Rhizomelia, Bell-shaped thorax, Narrow chest, Metaphyseal cupping, Hypopla... |
OMIM:258480 |
| Pfeiffer Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Hyperlordosis, Synostosis of carpal bones, Bro... |
ORPHA:710 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Anteverted nares, Short nose, Low-set ears, Depressed nasal bridge |
OMIM:613443 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Narrow mouth, Death in infancy, Micrognathia, Cleft palate, Cupped ear |
ORPHA:93946 |
| Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary ribs, Rib f... |
OMIM:206900 |
| Cousin Syndrome |
|
Macrocephaly, Dislocated radial head, Stenosis of the external auditory canal, Low-set ears, Wris... |
OMIM:260660 |
| Synpolydactyly 2 |
|
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... |
OMIM:608180 |
| Ear-Patella-Short Stature Syndrome |
|
Retrognathia, Microcephaly, Microtia, third degree, Low-set ears, Mandibular aplasia, Hearing imp... |
ORPHA:2554 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Kyphoscoliosis, Mixed hearing impairment, Dental crowding, Sensorineural hearing impairment, Broa... |
OMIM:616331 |
| Osteogenesis Imperfecta, Type Xviii |
|
Vertebral compression fracture, Thin ribs, Femoral bowing, Bowing of the long bones, Biconcave ve... |
OMIM:617952 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Macrocephaly, Microtia, Microcephaly, EEG abnormality |
OMIM:617798 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Recurrent otitis media, Anteverted nares, Microtia, Low-set ears, Microcephaly, Bulbous nose |
ORPHA:261323 |
| Rubinstein-Taybi Syndrome 2 |
|
Narrow palate, Retrognathia, Increased overbite, High palate, Talon cusp, Carious teeth, Microgna... |
OMIM:613684 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Macrotia, Short nose, Bulbous nose, Wide nasal bridge |
OMIM:620292 |
| Holzgreve Syndrome |
|
Abnormal metacarpal morphology, Webbed neck, Abnormally ossified vertebrae, Abnormal rib morpholo... |
ORPHA:2167 |
| Garg-Mishra Progeroid Syndrome |
|
Platyspondyly, Narrow chest, Slender long bone, Thin ribs, Persistent open anterior fontanelle, O... |
OMIM:620601 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Macrotia, Short nose, Low-set ears, Slender nose |
OMIM:615419 |
| Meier-Gorlin Syndrome 1 |
|
Osteochondritis dissecans, Incomplete partition of the cochlea type II, Genu valgum, Genu recurva... |
OMIM:224690 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Macrotia, Short nose, Anteverted nares, Prominent nasal bridge |
OMIM:300558 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Abnormal metacarpal mo... |
ORPHA:1228 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, Clinodactyly of the 5th finger, Dental crowding, High palate, Upper limb asymmetry, ... |
ORPHA:231140 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Low posterior hairline, Kyphosis, Craniofacial asymmetry, ... |
OMIM:194190 |
| Baller-Gerold Syndrome |
|
Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Apla... |
ORPHA:1225 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Limited elbow extension, Narrow palate, Cloverleaf skull, Gingival overgrowth, Proptosis, High pa... |
OMIM:123790 |
| Aymé-Gripp Syndrome |
|
Brachycephaly, Plagiocephaly, Short nose, Large fontanelles, Long philtrum, Delayed cranial sutur... |
ORPHA:1272 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Short nose, Microtia, Low-set ears, Hearing impairment, Posteriorly rotated ears, Malar flattenin... |
OMIM:601353 |
| Orofaciodigital Syndrome Type 5 |
|
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... |
ORPHA:2919 |
| Sclerosteosis |
|
Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of ... |
ORPHA:3152 |
| Neurofaciodigitorenal Syndrome |
|
Abnormal tragus morphology, Abnormal pinna morphology, Mandibular prognathia, Low-set ears, Abnor... |
ORPHA:2673 |
| Carpenter Syndrome 1 |
|
Brachycephaly, Lambdoidal craniosynostosis, Genu valgum, High palate, Camptodactyly, Persistence ... |
OMIM:201000 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Short nose, Anteverted nares, Microtia, Hearing impairment, Microcephaly, Micrognathia, Wide nasa... |
ORPHA:2282 |
| Dysostosis, Stanescu Type |
|
Brachycephaly, Abnormal palate morphology, Increased bone mineral density, Abnormal dental enamel... |
ORPHA:1798 |
| Distal Deletion 10P |
|
Hearing abnormality, Low-set, posteriorly rotated ears, Webbed neck, Non-midline cleft of the upp... |
ORPHA:1580 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta |
ORPHA:1514 |
| Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
| Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Underdeveloped nasal alae, Elbow flexion contracture, Low-set ears, Wr... |
OMIM:618175 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Congenital hip dislocation, Wormian bones, Macroglossia, Hypertelorism |
OMIM:614450 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Short nose, Delayed eruption of teeth, Cloverleaf skull, Eruption failure, Mandibular... |
OMIM:166250 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Convex nasal ridge, Short nose |
OMIM:200130 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Microtia, Septo-optic dysplasia, Micrognathia, Aplasia/Hypoplasia involving the nose |
ORPHA:3301 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Microtia, Intestinal malrotation, Bifid uvula, Hydrocephalus, Cleft palate, Post... |
OMIM:300373 |
| Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Long philtrum, Frontal bossing, Hypoplasia of the zygomatic bone, Hypertelorism |
ORPHA:3074 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Short philtrum, Bicoronal synostosis, Camptodactyly of finger, Micro... |
OMIM:619951 |
| X-Linked Hypophosphatemia |
|
Rickets, Reduced bone mineral density, Genu valgum, Vertebral hyperostosis, Arthritis, Abnormal d... |
ORPHA:89936 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Retrognathia, Delayed eruption of teeth, Conical incisor, Oligodontia, Gingival ov... |
OMIM:235510 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Optic atrophy, Macrocephaly, Wide nose, Sensorineural hearing impairment, Otosclerosis, Arthritis... |
ORPHA:217085 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly |
OMIM:228250 |
| Bartsocas-Papas Syndrome 2 |
|
Bilateral cleft palate, Wide anterior fontanel, Low-set ears, Overfolded helix, Micrognathia, Acc... |
OMIM:619339 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Long nose, Retrognathia, Microtia, Microcephaly, Axillary pterygium, Anteverted nares, Posteriorl... |
OMIM:620450 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Kyphoscoliosis, Sandal gap, Pectus excavatum, Kyphosis, Arachnodactyly, Equinus calcaneus, Abnorm... |
ORPHA:536532 |
| Parietal Foramina 2 |
|
Parietal foramina, Hypertelorism |
OMIM:609597 |
| Branchioskeletogenital Syndrome |
|
Brachycephaly, Thin vermilion border, Short philtrum, Rootless teeth, Mandibular prognathia, Abno... |
ORPHA:1299 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metatarsal, Scolio... |
OMIM:190351 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia, Microtia, Type II ... |
OMIM:236670 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Short nose, Broad nasal tip, Prominent nasal bridge, Low-set ears |
OMIM:613544 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hearing impairment, Protruding tongue |
OMIM:619580 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Short nose, Anteverted nares, Microtia, Hearing impairment, Posteriorly rotated ears, Prominent n... |
OMIM:227330 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Limited elbow extension, Distal symphalangism, Retrognathia, Microtia, Microcephaly, Enamel hypop... |
OMIM:210720 |
| Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordos... |
OMIM:619698 |
| Coffin-Siris Syndrome 11 |
|
Esophageal atresia, Cleft soft palate, High palate, Low posterior hairline, Downturned corners of... |
OMIM:618779 |
| Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Short foot, Fusion of middle ear ossicles... |
OMIM:157800 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Syndactyly, Brachydactyly |
OMIM:615982 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr... |
ORPHA:1826 |
| Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome |
|
Tracheomalacia, Abnormal facial shape, Micrognathia, Joint hypermobility, Craniosynostosis, Deepl... |
ORPHA:412069 |
| Cardioacrofacial Dysplasia 1 |
|
Genu valgum, Short philtrum, Conical tooth, Postaxial polydactyly, Limb undergrowth, Accessory or... |
OMIM:619142 |
| Dysosteosclerosis |
|
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal metaphyseal trabeculation, Narrow ches... |
OMIM:224300 |
| Shprintzen-Goldberg Syndrome |
|
Osteopenia, Retrognathia, High, narrow palate, Genu valgum, Proptosis, Hypoplasia of the maxilla,... |
ORPHA:2462 |
| Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Decreased nerve conduction velocity, Macrocephaly, Hip osteoarthritis, Wide nose, ... |
ORPHA:580 |
| Cranioectodermal Dysplasia 3 |
|
Widely spaced teeth, Everted lower lip vermilion, Hypoplasia of teeth, Frontal bossing, Micrognat... |
OMIM:614099 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Biconvex vertebral bodies, Hypoplastic iliac wing, Pectus carinatum, Tibial bowing, Short long bo... |
ORPHA:93315 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Widely spaced teeth, Wide mouth, Protruding tongue |
ORPHA:98795 |
| Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Webbed neck, Limited elbow extension and supination, Cleft upper ... |
OMIM:244600 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Optic atrophy, Macrocephaly, Wide nose, Sensorineural hearing impairment, Otosclerosis, Arthritis... |
ORPHA:217093 |
| Tetrasomy 18P |
|
Short nose, Low-set, posteriorly rotated ears |
ORPHA:3307 |
| Craniometaphyseal Dysplasia |
|
Osteopetrosis, Hypertelorism, Wide nasal bridge, Craniofacial hyperostosis |
ORPHA:1522 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Anterior encephalocele, Scoliosis, Amelia, Foot oligodactyly, Short femur |
OMIM:601357 |
| Osteogenesis Imperfecta, Type X |
|
Genu valgum, Rhizomelia, Fibular bowing, Vertebral compression fracture, Narrow chest, Death in c... |
OMIM:613848 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Sensorineural hearing impairment, Microtia, Low-set ears, Microcephaly, Conductive hearing impair... |
OMIM:618500 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar kerato... |
ORPHA:2251 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Pes cavus, Abnormal vertebral morphology, Abnormal metacarpal morphology, Short hallux, Finger sy... |
ORPHA:3224 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Retrognathia, High, narrow palate, Triangular face, Hyperextensibility of the finger joints, Prop... |
OMIM:616914 |
| Ophthalmomandibulomelic Dysplasia |
|
Ulnar deviated club hands, Synostosis of carpal bones, Micromelia, Camptodactyly of finger, Mesom... |
ORPHA:2741 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Preaxial polydactyly, Anencephaly, Short ribs, Low-set ears, Micromelia, Postaxial polydactyly, O... |
OMIM:616546 |
| Synostoses, Tarsal, Carpal, And Digital |
|
Tarsal synostosis, Short metacarpal, Radial head subluxation, Carpal synostosis, Metacarpophalang... |
OMIM:186400 |
| Acrofacial Dysostosis, Palagonia Type |
|
Short 4th metacarpal, Spina bifida occulta, Abnormal form of the vertebral bodies, Finger syndact... |
ORPHA:1787 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal pinna morphology, Hearing impairment, Atres... |
ORPHA:1231 |
| Angelman Syndrome |
|
Widely spaced teeth, Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mo... |
OMIM:105830 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly |
ORPHA:1276 |
| Osteogenesis Imperfecta, Type Xvi |
|
Rhizomelia, Vertebral compression fracture, Narrow chest, Angulated humerus, Wormian bones, Short... |
OMIM:616229 |
| Joubert Syndrome 14 |
|
Short philtrum, Encephalocele, Meningocele, Low-set ears, Postaxial polydactyly, Cleft palate, Po... |
OMIM:614424 |
| Distal Symphalangism |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... |
ORPHA:3248 |
| Al-Raqad Syndrome |
|
Short nose, Low-set ears |
OMIM:616459 |
| Branchiootic Syndrome 3 |
|
Commissural lip pit, Sensorineural hearing impairment, Branchial cyst |
OMIM:608389 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, Stillbirth, 2-5 finger syndactyly, Epiphyseal st... |
OMIM:308050 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Hearing impairment, Macrotia |
ORPHA:2701 |
| Blomstrand Lethal Chondrodysplasia |
|
Low-set ears, Protruding tongue, Micrognathia, Natal tooth, Long philtrum |
ORPHA:50945 |
| Benign Samaritan Congenital Myopathy |
|
Hypertelorism, Dolichocephaly, Narrow mouth, Wide nasal bridge |
ORPHA:324581 |
| Schneckenbecken Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ... |
ORPHA:3144 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Long face, Abnormality of primary teeth, Incisor macrodontia, High palate, Frontal bossing, Tente... |
ORPHA:438216 |
| Pierpont Syndrome |
|
Short nose, Wide nose, Hearing impairment, Broad nasal tip, Posteriorly rotated ears, Large flesh... |
OMIM:602342 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Holoprosencephaly, Intraut... |
ORPHA:1908 |
| Grant Syndrome |
|
Narrow chest, Joint dislocation, Abnormal pelvic girdle bone morphology, Bowing of the long bones... |
ORPHA:2097 |
| Oculofaciocardiodental Syndrome |
|
Solitary median maxillary central incisor, Sensorineural hearing impairment, Intestinal malrotati... |
ORPHA:2712 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hy... |
OMIM:274000 |
| Pendred Syndrome |
|
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... |
ORPHA:705 |
| Sirenomelia |
|
Sirenomelia, Spina bifida |
ORPHA:3169 |
| Pseudoaminopterin Syndrome |
|
Clinodactyly of the 5th toe, Limited elbow movement, Microdontia, Hypoplasia of the antihelix, Ov... |
ORPHA:221120 |
| Distal Monosomy 7Q36 |
|
Optic atrophy, Non-midline cleft of the upper lip, Macrotia, Micrognathia, Cleft palate, Wide mou... |
ORPHA:1636 |
| Omodysplasia 2 |
|
Fibular hypoplasia, Recurrent otitis media, Clinodactyly of the 5th finger, Limited elbow flexion... |
OMIM:164745 |
| Ritscher-Schinzel Syndrome 1 |
|
Missing ribs, Hemivertebrae, Syndactyly, Low posterior hairline |
OMIM:220210 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Pterygium, Short long bone, Bowing of the long bones, Anisospondyly, Mic... |
OMIM:224410 |
| Au-Kline Syndrome |
|
Sensorineural hearing impairment, Microtia, Lipomyelomeningocele, Bifid uvula, Overlapping toe, C... |
OMIM:616580 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Short nose, Hearing impairment, Prominent nasal bridge, Bulbous nose, Thickened helices, Depresse... |
OMIM:618828 |
| Hennekam Syndrome |
|
Retrognathia, Supernumerary tooth, Short philtrum, Delayed eruption of teeth, Gingival overgrowth... |
ORPHA:2136 |
| Hand-Foot-Genital Syndrome |
|
Sacral dimple, Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsa... |
ORPHA:2438 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Syndactyly, Brachydactyly |
OMIM:610023 |
| Pycnodysostosis |
|
Narrow palate, Prominent occiput, Absent frontal sinuses, Increased bone mineral density, Hypodon... |
OMIM:265800 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Gingival overgrowth, Protruding tongue, Simplified gyral pattern, Pachygyria, Long philtrum |
OMIM:619179 |
| Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Widely spaced teeth, Wide mouth, Protruding tongue |
ORPHA:411511 |
| Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Broad finger, Pectus carinatum, Pectus excavatum, Short phalanx of finger, Brachydactyly, Clinoda... |
OMIM:614684 |
| Monosomy 9P |
|
Short nose, Abnormal antihelix morphology, Anteverted nares, Microtia, Low-set ears, Choanal atre... |
ORPHA:261112 |
| Charlie M Syndrome |
|
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Micrognathia,... |
ORPHA:1406 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, Optic nerve hypoplasia, Sensorineural hearing impairment, Abnormal... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, Optic nerve hypoplasia, Sensorineural hearing impairment, Abnormal... |
ORPHA:352665 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormal rib morphology, Abnormality of the vertebral column |
OMIM:601076 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Broad alveolar ridges, Mandibular prognathia, Hypertelorism, Facial hyperostosis, Delayed eruptio... |
OMIM:218400 |
| Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate, Overfolded helix |
ORPHA:209908 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Spina bifida |
OMIM:620439 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Short distal phalanx of finger, Toe syndactyly,... |
ORPHA:1512 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Short nose, Macrotia, Prominent nasal bridge, Posteriorly rotated ears, Overfolded helix, Underde... |
ORPHA:2083 |
| Mosaic Trisomy 16 |
|
Craniofacial asymmetry |
ORPHA:1708 |
| Generalized Arterial Calcification Of Infancy |
|
Stippled calcification of the elbow, Mixed hearing impairment, Fused cervical vertebrae, Sensorin... |
ORPHA:51608 |
| Holoprosencephaly 13, X-Linked |
|
Semilobar holoprosencephaly, Solitary median maxillary central incisor, Alobar holoprosencephaly,... |
OMIM:301043 |
| Kniest Dysplasia |
|
Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Dumbbell-shaped femur, Flexion c... |
ORPHA:485 |
| Bresek Syndrome |
|
Aganglionic megacolon, Scoliosis, Hemivertebrae, Low-set ears, Postaxial hand polydactyly, Hearin... |
ORPHA:85284 |
| Skraban-Deardorff Syndrome |
|
Absent cupid's bow, Recurrent otitis media, Widely spaced teeth, Thick upper lip vermilion, Cleft... |
OMIM:617616 |
| Abruzzo-Erickson Syndrome |
|
Abnormal palate morphology, Sensorineural hearing impairment, Macrotia, Conductive hearing impair... |
ORPHA:921 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, S... |
OMIM:608940 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Scoliosis, Vertebral segmentation defect, Syno... |
ORPHA:1005 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Conductive hearing impairment, Microtia, Microcephaly |
OMIM:603467 |
| Pallister-Hall Syndrome |
|
Mesoaxial polydactyly, Oligodactyly, Broad thumb, Umbilical hernia, Polydactyly affecting the 3rd... |
ORPHA:672 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Retrognathia, Craniosynostosis, Arthrogryposis multiplex congenita, Hypodontia, Metopic synostosi... |
OMIM:301056 |
| Cleidocranial Dysplasia |
|
Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abnormal metacarpal morph... |
ORPHA:1452 |
| 3Mc Syndrome |
|
Orofacial cleft, Limited pronation/supination of forearm, Downturned corners of mouth, Radioulnar... |
ORPHA:293843 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Short nose, Large fontanelles, Recurrent joint dislocation, High palate, Narrow mouth, Thin upper... |
ORPHA:2953 |
| Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Abnormal antihelix morphology, Small earlobe, Microtia, Underdeveloped... |
ORPHA:2036 |
| Fryns Microphthalmia Syndrome |
|
Tessier cleft, Neural tube defect, Bilateral cleft palate, Macrotia, Bilateral cleft lip |
OMIM:600776 |
| Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome |
|
Retrognathia, Microtia, Hypoplastic nasal bridge |
OMIM:620510 |
| Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Foot polydactyly, Sensorineural hearing impairment, Aganglionic megacolon, Postaxial hand polydac... |
ORPHA:2155 |
| Oliver Syndrome |
|
Clinodactyly of the 5th finger, Short philtrum, Small earlobe, Scoliosis, Absent earlobe, High pa... |
ORPHA:2920 |
| Suleiman-El-Hattab Syndrome |
|
Polydactyly, Protruding ear, Thick lower lip vermilion, Webbed neck, Single transverse palmar cre... |
OMIM:618950 |
| 16P13.11 Microdeletion Syndrome |
|
Short nose, Sensorineural hearing impairment, Anteverted nares, Low-set ears, Atresia of the exte... |
ORPHA:261236 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, High palate, Low-set ears, Kyphosis, Postaxi... |
OMIM:617527 |
| Multiple Pterygium Syndrome, X-Linked |
|
Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Cystic hygroma, Abnormal cervical ... |
OMIM:312150 |
| Hajdu-Cheney Syndrome |
|
Kyphoscoliosis, Genu valgum, Fibular bowing, Osteolytic defects of the phalanges of the hand, Tal... |
OMIM:102500 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... |
OMIM:609441 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Mixed hearing impairment, Microtia, Choanal atresia, Atresia of the external auditory canal, Cari... |
OMIM:620186 |
| Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
| Kapur-Toriello Syndrome |
|
Atresia of the external auditory canal, Bulbous nose, Posteriorly rotated ears, Low-set ears |
ORPHA:2328 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal diaphysis morphology, Narrow chest, Slender long bone, Clubbing of fingers, Abnormal for... |
ORPHA:73230 |
| Lymphangiectasia, Intestinal |
|
Prominent floating ribs |
OMIM:152800 |
| Orofaciodigital Syndrome Type 4 |
|
Retrognathia, Abnormal oral frenulum morphology, Bifid uvula, Abnormality of the ear, Short philt... |
ORPHA:2753 |
| Aarskog-Scott Syndrome |
|
Radial deviation of finger, Hyperextensibility of the finger joints, Short 5th finger, Single tra... |
OMIM:305400 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Cubitus valgus, Scoliosis, Hemivertebrae, Pectus excavatum, Congenital hip dislocation, Syndactyl... |
OMIM:104350 |
| Edinburgh Malformation Syndrome |
|
Anteverted nares, Short nose, Low-set ears, Choanal atresia |
ORPHA:1895 |
| Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
|
Profound sensorineural hearing impairment, Absent internal auditory canal, Hypoplasia of the cochlea |
OMIM:620469 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
| Tetrasomy 12P |
|
Short nose, Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Everted lo... |
ORPHA:884 |
| Monosomy 18P |
|
Protruding ear, Short philtrum, Tooth malposition, Abnormal antihelix morphology, Webbed neck, Lo... |
ORPHA:1598 |
| Cerebrocostomandibular Syndrome |
|
Webbed neck, Meningocele, Short hard palate, Hydranencephaly, Glossoptosis, Myelomeningocele, Spi... |
ORPHA:1393 |
| Genitopalatocardiac Syndrome |
|
Cleft upper lip, Micrognathia, Cleft palate, Low-set ears |
OMIM:231060 |
| Periventricular Nodular Heterotopia 9 |
|
Everted upper lip vermilion, Polymicrogyria, Microtia, Gingival overgrowth, High palate, Gray mat... |
OMIM:618918 |
| Cartilage-Hair Hypoplasia |
|
Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, P... |
ORPHA:175 |
| Occipital Horn Syndrome |
|
Pectus carinatum, Large iliac wing, Pectus excavatum, Absent tibia, Kyphosis, Aplasia/hypoplasia ... |
ORPHA:198 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Protruding ear, Short philtrum, Webbed neck, Abnormal antihelix morphology, Hydrocephalus, Abnorm... |
ORPHA:261337 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Scoliosis, Kyphosis, Hand clenching, Neonatal death, Hip dysplasia, Short nec... |
OMIM:611890 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Clinodactyly of the 5th finger, Short metatarsal, Pectus carinatum, Scoliosis, Hyperlordosis, Sho... |
ORPHA:77258 |
| Glutamine Deficiency, Congenital |
|
Short nose, Anteverted nares, Low-set ears, Wide nasal bridge, Depressed nasal bridge |
OMIM:610015 |
| Maxillonasal Dysplasia |
|
Abnormal nostril morphology, Short nose, Depressed nasal ridge, Depressed nasal bridge, Short col... |
ORPHA:1248 |
| Faundes-Banka Syndrome |
|
Long ear, Microtia, Low-set ears, Conductive hearing impairment, Micrognathia, Bulbous nose, Prim... |
OMIM:619376 |
| Sclerosteosis 1 |
|
Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense lo... |
OMIM:269500 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint dislocation, Proptosis, Microdontia, Dentinogenesis imperfecta, Long philtrum, Joi... |
ORPHA:536467 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
| Mesomelia-Synostoses Syndrome |
|
Narrow foot, Short umbilical cord, Abnormal vertebral morphology, Carpometacarpal synostosis, Sho... |
OMIM:600383 |
| Barber-Say Syndrome |
|
Wide nose, Delayed eruption of teeth, Stenosis of the external auditory canal, Anteverted nares, ... |
OMIM:209885 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short nose, Bilateral choanal atresia, Anteverted nares, Low-set ears, Choanal atresia, Choanal s... |
OMIM:619859 |
| Alpha-Mannosidosis, Infantile Form |
|
Brachycephaly, Cranial hyperostosis, Talipes valgus, Abnormality of the sphenoid sinus, Genu valg... |
ORPHA:309282 |
| Mucopolysaccharidosis Type 6 |
|
Abnormal metaphysis morphology, Genu valgum, Kyphosis, Epiphyseal dysplasia, Ovoid vertebral bodi... |
ORPHA:583 |
| Seckel Syndrome 5 |
|
Retrognathia, Abnormal cortical gyration, Oligodontia, Selective tooth agenesis, High palate, Low... |
OMIM:613823 |
| Chromosome 18Q Deletion Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Stenosis of the external auditory canal, Mandibu... |
OMIM:601808 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Short tubular bones of the hand, Abnormal diaphysis morphology, Overtubulated long bones, Broad f... |
ORPHA:85184 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Cervical spinal canal stenosis, Occipital encephalocele, Redundant neck skin, Rhizomelic leg shor... |
ORPHA:397715 |
| Scalp-Ear-Nipple Syndrome |
|
Short columella, Pyelonephritis, Small earlobe, Microtia, Underdeveloped tragus, Low-set ears, Un... |
OMIM:181270 |
| Say-Barber-Miller Syndrome |
|
Thin vermilion border, Patellar hypoplasia, Ankle clonus, Tooth malposition, Elbow flexion contra... |
ORPHA:3132 |
| Down Syndrome |
|
Redundant neck skin, Aganglionic megacolon, Microtia, Anal atresia, Protruding tongue, Thickened ... |
OMIM:190685 |
| Isolated Cleft Lip |
|
Chronic otitis media, Supernumerary maxillary incisor, Abnormal Eustachian tube morphology, Non-m... |
ORPHA:199302 |
| Diamond-Blackfan Anemia 7 |
|
Recurrent otitis media, Esophagitis, Choanal atresia, Hearing impairment, Atresia of the external... |
OMIM:612562 |
| Meier-Gorlin Syndrome 7 |
|
Meconium peritonitis, Dislocated radial head, Sensorineural hearing impairment, Microtia, Wide an... |
OMIM:617063 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Lateral Meningocele Syndrome |
|
Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Micrognathia... |
OMIM:130720 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Optic atrophy, Thick lower lip vermilion, Sensorineural hearing impairment, Microtia, High palate... |
OMIM:309580 |
| Acrofrontofacionasal Dysostosis 2 |
|
Redundant neck skin, Sacral dimple, Thickened nuchal skin fold, Broad thumb, Hand polydactyly, Br... |
OMIM:239710 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Genu valgum, Fibular bowing, Cupped metaphyses of hand bones, Tibial bowing, Femoral bowing, Abno... |
OMIM:307800 |
| Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, EEG abnormality, Facial palsy, Absent brainstem auditory responses |
OMIM:617519 |
| Tetraamelia Syndrome 2 |
|
Low-set ears, Glossoptosis, Ankyloglossia, Micrognathia, Cleft palate, Microretrognathia, Bilater... |
OMIM:618021 |
| Trisomy 13 |
|
Bilateral single transverse palmar creases, High, narrow palate, Abnormal antihelix morphology, S... |
ORPHA:3378 |
| Waardenburg Syndrome, Type 1 |
|
Orofacial cleft, Myelomeningocele, Spina bifida, Supernumerary ribs, Congenital sensorineural hea... |
OMIM:193500 |
| Acrocephalopolydactylous Dysplasia |
|
Craniosynostosis, Short nose, Hypertelorism, Oxycephaly |
OMIM:200995 |
| Amelogenesis Imperfecta, Type Ia |
|
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia |
OMIM:104530 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Kyphoscoliosis, Ankle flexion contracture, Elbow flexion contracture, Short ribs, Cupped ribs, In... |
ORPHA:1145 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Abnormal metacarpal morphology, Asymmetry of the thorax, Finger syndactyly, Aplasia/Hypoplasia of... |
ORPHA:1112 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Stomatitis, Glossitis, Microtia, High palate, Low-set ears, Tracheoesophageal fistula, Thin upper... |
OMIM:277380 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Neonatal death, S... |
OMIM:609638 |
| Orofaciodigital Syndrome Type 2 |
|
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... |
ORPHA:2751 |
| Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Webbed neck, Hydrocephalus, Microtia, Low-set ears, Anal atresia, Tracheoesop... |
OMIM:614083 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Short nose, Broad nasal tip |
OMIM:613670 |
| Vacterl Association With Hydrocephalus |
|
Stillbirth, Abnormal vertebral morphology, Radial club hand, Abnormality of the vertebral column,... |
OMIM:276950 |
| Burn-Mckeown Syndrome |
|
Thin vermilion border, Short philtrum, Mandibular prognathia, Narrow mouth, Hearing impairment, C... |
OMIM:608572 |
| Autosomal Recessive Stickler Syndrome |
|
Genu valgum, Sensorineural hearing impairment, Abnormal epiphysis morphology, Epiphyseal dysplasi... |
ORPHA:250984 |
| Cerebrooculonasal Syndrome |
|
Tessier cleft, Widely spaced teeth, Solitary median maxillary central incisor, Low-set, posterior... |
ORPHA:66625 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow chest, Short metacarpal, Rhizomelic arm shortening, Abnormal rib morphology, Iliac crest s... |
ORPHA:93317 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Sensorineural hearing impairment, Facial palsy, Tongue atrophy |
OMIM:158900 |
| Distal Duplication 18Q |
|
Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Prominent nasal... |
ORPHA:1716 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, High palate, Low-set ears,... |
OMIM:617412 |
| Marshall Syndrome |
|
Short nose, Thick lower lip vermilion, Absent frontal sinuses, Knee osteoarthritis, Micrognathia,... |
OMIM:154780 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal epiphysis morphology, Abnormal rib morphology, Brachydactyly |
ORPHA:2643 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Carpal osteolysis, Abnormal form of the vertebral bodies, Osteolysis involving bones of the lower... |
ORPHA:371428 |
| Distal Deletion 12Q |
|
Supernumerary tooth, High, narrow palate, Esophageal atresia, Prominent ear helix, Microtia, Bila... |
ORPHA:96149 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal... |
ORPHA:79345 |
| Say Syndrome |
|
Macrotia, Micrognathia, Cleft palate |
OMIM:181180 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Genu valgum, Sandal gap, Joint dislocation, Genu recurvatum, Absent phalangeal cr... |
ORPHA:230851 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Hypoplastic helices, Anteverted nares, Abnormal pinna morphology, Microtia, Low-set ears, Antever... |
OMIM:617641 |
| Treacher Collins Syndrome 1 |
|
Microtia, Choanal atresia, Atresia of the external auditory canal, Conductive hearing impairment,... |
OMIM:154500 |
| Autosomal Dominant Omodysplasia |
|
Short nose, Frontal bossing, Micrognathia, Malar flattening, Long philtrum, Patellar dislocation,... |
ORPHA:93328 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Craniosynostosis, Recurrent fractures |
ORPHA:251004 |
| Codas Syndrome |
|
Short nose, Midline defect of the nose, Sensorineural hearing impairment, Anteverted nares, Crump... |
ORPHA:1458 |
| Scarf Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Enamel hypoplasia, Long philtrum, Wide nas... |
OMIM:312830 |
| Radio-Renal Syndrome |
|
Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal rib morphology, Microme... |
ORPHA:3015 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Cranial hyperostosis, Calvarial osteosclerosis, Tooth malposition, Dental crowding, Mandibular pr... |
OMIM:123000 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Short nose, Wide nose, Anteverted nares, Microtia, Low-set ears, Cervical C5/C6 vertebrae fusion,... |
OMIM:613458 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Cystic hygroma, Abnormal cervical ... |
OMIM:253290 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Low-set ears, Postaxial hand polydactyly, Bowing of the long bones, Incr... |
OMIM:619879 |
| Craniofrontonasal Syndrome |
|
Brachycephaly, Axillary pterygium, Abnormality of the dentition, Coronal craniosynostosis, Fronta... |
OMIM:304110 |
| Bilateral Perisylvian Polymicrogyria |
|
Perisylvian predominant thick cortex pachygyria, Facial diplegia, Protruding tongue, Hearing impa... |
ORPHA:98889 |
| Holoprosencephaly |
|
Optic atrophy, Solitary median maxillary central incisor, Encephalocele, Abnormal antihelix morph... |
ORPHA:2162 |
| Cornelia De Lange Syndrome |
|
Bilateral single transverse palmar creases, Short 1st metacarpal, Proximal placement of thumb, Cl... |
ORPHA:199 |
| Otopalatodigital Syndrome Type 2 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Encepha... |
ORPHA:90652 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Short nose, Anteverted nares, Low-set ears, Hearing impairment, Hypoplasia of the antihelix, Bulb... |
OMIM:616420 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal facial shape, Craniosynostosis, Micrognathia, Frontal bossing |
ORPHA:166035 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Craniosynostosis, Micrognathia, Bifid uvula |
OMIM:601374 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Calvarial osteosclerosis, Delayed cranial suture closure, Decreased skull ossification, Cortical ... |
ORPHA:93324 |
| Townes-Brocks Syndrome 2 |
|
Microtia, Overfolded helix, Cupped ear |
OMIM:617466 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Toriello-Carey Syndrome |
|
Abnormal palate morphology, Aganglionic megacolon, Wide anterior fontanel, Abnormal pinna morphol... |
ORPHA:3338 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Widely spaced teeth, Wide mouth, Protruding tongue |
ORPHA:98794 |
| Potocki-Shaffer Syndrome |
|
Short nose, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:601224 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microtia, Low-set ears, Microcephaly, Carious teeth, Uplifted earlobe, Micrognathia, Posteriorly ... |
OMIM:616734 |
| Foxp1 Syndrome |
|
Short nose, Hypoplastic helices, Recurrent otitis media, Broad nasal tip, Recurrent upper respira... |
ORPHA:391372 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Abnormal pinna morphology, Death in infancy, Cleft palate, Open mouth |
OMIM:147800 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Tessier cleft, High, narrow palate, Ethmoidal encephalocele, Optic nerve hypoplasia, Low-set ears... |
OMIM:607597 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Low-set ears, Short nose, Posteriorly rotated ears, Thick nasal alae |
ORPHA:163961 |
| Ablepharon Macrostomia Syndrome |
|
Anteverted nares, Microtia, Underdeveloped nasal alae, Hearing impairment, Camptodactyly of finge... |
ORPHA:920 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Adducted thumb, Webbed neck, Flared metaphysis, Wormian bones, Short ribs, Decreased fibular diam... |
OMIM:616897 |
| Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula, Recurrent otitis media |
OMIM:601492 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Long face, High palate, Narr... |
OMIM:618050 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Microcephaly, Camptodactyly of finger, Hypoplasia of the ear cartilage, La... |
ORPHA:1236 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hearing impairment, Cleft upper lip, Cleft palate |
OMIM:120433 |
| Hydrolethalus |
|
Retrognathia, Gingival cleft, Low-set, posteriorly rotated ears, Anencephaly, Hydrocephalus, Low-... |
ORPHA:2189 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly, Esophageal varix |
OMIM:618955 |
| Fg Syndrome 5 |
|
Short nose, Anteverted nares, Depressed nasal bridge |
OMIM:300581 |
| Craniofacioskeletal Syndrome |
|
Microtia, Choanal atresia, Hypoplastic frontal sinuses, Microcephaly, Micrognathia, Posteriorly r... |
OMIM:300712 |
| Kury-Isidor Syndrome |
|
Rocker bottom foot, Sacral dimple, Proximal placement of thumb, Finger syndactyly, Scoliosis, Bra... |
OMIM:619762 |
| Mucolipidosis Ii Alpha/Beta |
|
Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Bullet-shaped phalang... |
OMIM:252500 |
| Intellectual Disability, Buenos-Aires Type |
|
Reduced bone mineral density, Abnormal calvaria morphology, Mandibular prognathia, Open bite, Hig... |
ORPHA:3079 |
| Blepharonasofacial Malformation Syndrome |
|
Optic atrophy, Non-midline cleft of the upper lip, Abnormal pinna morphology, Low posterior hairl... |
ORPHA:1252 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Short long bone, Femoral bowing, Short... |
OMIM:615503 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Sacrococcygeal teratoma, Absent tibia |
ORPHA:1757 |
| Osteogenesis Imperfecta, Type Iii |
|
Slender long bone, Scoliosis, Tibial bowing, Thin ribs, Kyphosis, Biconcave vertebral bodies, Pro... |
OMIM:259420 |
| Ivic Syndrome |
|
Hypoplasia of the radius, Triphalangeal thumb, Scoliosis, Synostosis of carpal bones, Short thumb... |
ORPHA:2307 |
| Noonan Syndrome 3 |
|
Short nose, High palate, Frontal bossing, Dolichocephaly, Left unilambdoid synostosis, Hypertelor... |
OMIM:609942 |
| Non-Distal Duplication 13Q |
|
Thin vermilion border, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, High pa... |
ORPHA:1702 |
| Turnpenny-Fry Syndrome |
|
Hypoplasia of the primary teeth, Macrocephaly, Torticollis, Wide anterior fontanel, Microtia, Man... |
OMIM:618371 |
| Branchiooculofacial Syndrome |
|
Short nasal septum, Sensorineural hearing impairment, Microtia, Elbow flexion contracture, Low-se... |
OMIM:113620 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Adducted thumb, Scoliosis, Ulnar deviation of the hand or of fingers of the hand, Calcaneovalgus ... |
ORPHA:562528 |
| Joubert Syndrome 20 |
|
Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
| Braddock-Carey Syndrome 1 |
|
Talipes equinovarus, Hyperlordosis, Everted lower lip vermilion, Camptodactyly, Enamel hypoplasia... |
OMIM:619980 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Recurrent otitis media, Short philtrum, Scoliosis, High palate, Narrow mouth, Short foot, Pyloric... |
ORPHA:96184 |
| Thalidomide Embryopathy |
|
Hearing impairment, Chronic rhinitis, Anotia, Abnormality of the outer ear |
ORPHA:3312 |
| Craniometadiaphyseal Dysplasia |
|
Genu valgum, Cubitus valgus, Flared metaphysis, Scoliosis, Natal tooth, Coxa valga, Broad long bo... |
OMIM:269300 |
| Otodental Syndrome |
|
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Long face,... |
ORPHA:2791 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Macrocephaly, Mesiodens, Wide nose, Anteverted nares, Intention tremor, Short ear, Bulbous nose |
ORPHA:314647 |
| Pde4D Haploinsufficiency Syndrome |
|
Caudal interpedicular narrowing, Short metatarsal, Upper limb undergrowth, Bilateral coxa valga, ... |
ORPHA:439822 |
| Campomelic Dysplasia |
|
Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Narrow chest, Scoliosis... |
ORPHA:140 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly |
OMIM:615937 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Long nose, Short nose, Limited elbow movement, Long philtrum, Long face, Cloverleaf skull, Elbow ... |
ORPHA:508533 |
| Martsolf Syndrome 1 |
|
Talipes valgus, Slender ulna, Talipes equinovarus, Pectus carinatum, Short metacarpal, Low poster... |
OMIM:212720 |
| Czeizel-Losonci Syndrome |
|
Spina bifida occulta, Hitchhiker thumb, Single transverse palmar crease, Ectrodactyly, Myelomenin... |
ORPHA:2437 |
| Zttk Syndrome |
|
Scoliosis, Hemivertebrae, Kyphosis, Rib fusion, Cervical ribs, Craniosynostosis, Short foot, Smal... |
OMIM:617140 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose, Posteriorly rotated ears |
OMIM:300887 |
| Camptobrachydactyly |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... |
ORPHA:1319 |
| Polydactyly, Postaxial, Type A7 |
|
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... |
OMIM:617642 |
| Microphthalmia, Lenz Type |
|
Abnormal clavicle morphology, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Webbe... |
ORPHA:568 |
| 7Q11.23 Microduplication Syndrome |
|
Brachycephaly, Retrognathia, Thin vermilion border, Cubitus valgus, Short philtrum, Tracheomalaci... |
ORPHA:96121 |
| Qazi-Markouizos Syndrome |
|
Delayed ossification of carpal bones, Tapered finger, Torticollis, Pectus excavatum |
ORPHA:3010 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Fibular bowing, Enlargement of the costochondral junction, Enlargement of the wrists, Delayed epi... |
OMIM:600081 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Brachycephaly, Short nose, Thick lower lip vermilion, Triangular face, Hypotelorism, Short philtr... |
OMIM:309590 |
| Diamond-Blackfan Anemia 11 |
|
Atresia of the external auditory canal, Stenosis of the external auditory canal, Radioulnar synos... |
OMIM:614900 |
| 15q26 overgrowth syndrome |
|
Long philtrum, Triangular face, Joint hypermobility, Long face, Mandibular prognathia, High palat... |
DECIPHER:81 |
| 3Mc Syndrome 1 |
|
Lambdoidal craniosynostosis, Wide anterior fontanel, Dental crowding, Coronal craniosynostosis, C... |
OMIM:257920 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly, Coxa valga |
OMIM:132450 |
| Bardet-Biedl Syndrome 1 |
|
High, narrow palate, Aganglionic megacolon, Radial deviation of finger, Dental crowding, High pal... |
OMIM:209900 |
| Vacterl With Hydrocephalus |
|
Retrognathia, Microtia, third degree, Micrognathia, Anotia, Abnormality of the outer ear, Hip dis... |
ORPHA:3412 |
| Frontorhiny |
|
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of the maxilla, Cleft palate, Basal ... |
ORPHA:391474 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Short ribs, Postaxial hand polydactyly, Micromelia, Cleft palate, Postax... |
OMIM:241800 |
| Peripheral Dysostosis |
|
Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Van Esch-O'Driscoll Syndrome |
|
Retrognathia, Short nose, Microtia, Microcephaly, Protruding ear, Depressed nasal bridge |
OMIM:301030 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Spinal rigidity, Short long bone, Glossoptosis, Abnormally ossified verte... |
ORPHA:94068 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Advanced eruption of teeth, Webbed neck, Talipes equinovarus, Congenital muscular torticollis, Fi... |
ORPHA:2215 |
| Donnai-Barrow Syndrome |
|
Sensorineural hearing impairment, Short nose, Posteriorly rotated ears, Depressed nasal bridge |
ORPHA:2143 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Short nose, Abnormality of canine, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted ... |
ORPHA:364577 |
| Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Large fontanelles, Genu valgum, Cubitus valgus, Mandibular prognathia, Smooth philtrum, Joint hyp... |
ORPHA:1778 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Short nose, Abnormal antihelix morphology, Protruding ear, Bulbous nose, Depressed nasal bridge |
ORPHA:261144 |
| Acrofacial Dysostosis, Catania Type |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Spina bifida occulta,... |
ORPHA:1786 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Subluxation of the small joints of the hand, Proptosis, Generalized osteoporosis, Joint hypermobi... |
ORPHA:536471 |
| Angelman Syndrome |
|
Optic atrophy, Widely spaced teeth, Mandibular prognathia, Protruding tongue, Wide mouth, Optic d... |
ORPHA:72 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Short nose, Sensorineural hearing impairment, Anteverted nares, Low-set ears, Wide nasal bridge, ... |
OMIM:616430 |
| Familial Osteodysplasia, Anderson Type |
|
Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal form of the vertebral b... |
ORPHA:2769 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Seckel Syndrome 1 |
|
Clinodactyly of the 5th finger, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalan... |
OMIM:210600 |
| Pfeiffer Syndrome Type 2 |
|
Short nose, Low-set ears, Choanal atresia, Atresia of the external auditory canal, Malar flatteni... |
ORPHA:93259 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Pectus carinatum, Hyperlordosis, Ab... |
ORPHA:3068 |
| Craniolenticulosutural Dysplasia |
|
Long philtrum, Large fontanelles, Thin vermilion border, Delayed eruption of teeth, Premature los... |
ORPHA:50814 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Genu recurvatum, Pes planus, Calcaneovalgus deformity, Pectus excavatum |
OMIM:225320 |
| Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr... |
OMIM:607323 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Craniosynostosis, Micrognathia, Frontal bossing, Thick vermilion border |
OMIM:250410 |
| 1P36 Deletion Syndrome |
|
Abnormality of the neck, Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Scoliosis,... |
ORPHA:1606 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Abnormal pinna morphology, Absent tragus, Anosmia, Choanal atresia, Atresia of the external audit... |
OMIM:603457 |
| Cohen Syndrome |
|
High, narrow palate, Genu valgum, Cubitus valgus, Short philtrum, Hypoplasia of the maxilla, Micr... |
OMIM:216550 |
| Codas Syndrome |
|
Genu valgum, Proximal placement of thumb, Delayed eruption of teeth, Delayed ossification of carp... |
OMIM:600373 |
| C Syndrome |
|
Radial deviation of finger, Dislocated radial head, Thick anterior alveolar ridges, Scoliosis, Hi... |
OMIM:211750 |
| Trisomy 12P |
|
Short nose, Turricephaly, Proptosis, Everted lower lip vermilion, Micrognathia, Cleft palate, Dow... |
ORPHA:1699 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Chronic otitis media, Long nose, Short nose, Anteverted nares, Abnormal pinna morphology, Low-set... |
ORPHA:261211 |
| 2Q31.1 Microdeletion Syndrome |
|
Sandal gap, Kyphosis, Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal ... |
ORPHA:251014 |
| Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Narrow nasal ridge, Anteverted nares, Broad nasal tip |
OMIM:137550 |
| Developmental And Epileptic Encephalopathy 100 |
|
Polymicrogyria, Gingival overgrowth, High palate, Microdontia, Protruding tongue, Enamel hypoplas... |
OMIM:619777 |
| Whistling Face Syndrome, Recessive Form |
|
Trismus, Whistling appearance, Narrow mouth, High palate, Micrognathia, Microglossia, Long philtr... |
OMIM:277720 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Carpenter Syndrome 2 |
|
Broad neck, Sensorineural hearing impairment, Broad thumb, Umbilical hernia, Long philtrum, Narro... |
OMIM:614976 |
| Opitz Gbbb Syndrome |
|
Large fontanelles, Tracheomalacia, Hypodontia, High palate, Ankyloglossia, Prominent metopic ridg... |
ORPHA:2745 |
| Kagami-Ogata Syndrome |
|
Anteverted nares, Microtia, Micrognathia, Depressed nasal bridge |
ORPHA:254519 |
| Silver-Russell Syndrome |
|
Clinodactyly of the 5th finger, Sandal gap, Abnormal appendicular skeleton morphology, Scoliosis,... |
ORPHA:813 |
| Degcags Syndrome |
|
Retrognathia, Unilateral conductive hearing impairment, Sensorineural hearing impairment, High pa... |
OMIM:619488 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Macrocephaly at birth, Short nose, Anteverted nares, Microtia, Tremor, Athetosis, Blepharitis, Pr... |
ORPHA:280633 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... |
ORPHA:1215 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Abnormal earlobe morphology, Sensorineural hearing impairment, Narrow mouth,... |
ORPHA:261330 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Short greater sciatic notch, Meckel diverticulum, Short ribs, Flare... |
OMIM:312870 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Prune Belly Syndrome |
|
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Congenital h... |
ORPHA:2970 |
| Pediatric-Onset Graves Disease |
|
Craniosynostosis, Proptosis, Small anterior fontanelle |
ORPHA:525731 |
| Roberts Syndrome |
|
Brachycephaly, Knee flexion contracture, Proptosis, Wrist flexion contracture, Synostosis of carp... |
ORPHA:3103 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... |
OMIM:601596 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Short nose, Hearing abnormality, Low-set, posteriorly rotated ears, Anteverted nares, Protruding ... |
ORPHA:2031 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Short nose, Anteverted nares, Low-set ears, Prominent nose, Underfolded helix, Posteriorly rotate... |
OMIM:618316 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Retrognathia, Ankle flexion contracture, Hypotelorism, Proptosis, Narrow mouth, Prominent metopic... |
ORPHA:468631 |
| Joubert Syndrome 10 |
|
Low-set ears, Postaxial hand polydactyly, Conductive hearing impairment, Thick vermilion border, ... |
OMIM:300804 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Retrognathia, Sensorineural hearing impairment, Abnormal pinna morphology, High palate, Low-set e... |
ORPHA:52055 |
| Orofaciodigital Syndrome Type 3 |
|
Thoracic kyphosis, Low-set ears, Abnormality of the dentition, Postaxial hand polydactyly, Irregu... |
ORPHA:2752 |
| Zimmermann-Laband Syndrome |
|
Supernumerary tooth, Gingival fibromatosis, Anterior open-bite malocclusion, Sensorineural hearin... |
ORPHA:3473 |
| Fetal Hydantoin Syndrome |
|
Short nose, Hearing abnormality, Low-set, posteriorly rotated ears, Abnormal pinna morphology, De... |
ORPHA:1912 |
| Non-Syndromic Metopic Craniosynostosis |
|
Trigonocephaly, Hypotelorism, Wide nasal bridge |
ORPHA:3366 |
| Fountain Syndrome |
|
Short stature, Spina bifida occulta, Spina bifida |
ORPHA:3219 |
| Frontonasal Dysplasia 3 |
|
Brachycephaly, Cleft palate, Hypertelorism, Wide nasal bridge |
OMIM:613456 |
| Stickler Syndrome, Type I |
|
Beaking of vertebral bodies, Abnormal femoral epiphysis morphology, Spondylolisthesis, Sensorineu... |
OMIM:108300 |
| Miller-Dieker Syndrome |
|
Short nose, Anteverted nares |
ORPHA:531 |
| Cranioectodermal Dysplasia 2 |
|
Plagiocephaly, Retrognathia, Widely spaced teeth, Cloverleaf skull, Metopic synostosis, High pala... |
OMIM:613610 |
| Toluene Embryopathy |
|
Protruding ear, Short nose, Low-set ears |
ORPHA:1920 |
| Phocomelia, Schinzel Type |
|
Aplasia/Hypoplasia of the sacrum, Fibular aplasia, Hypoplasia of the radius, Abnormal tibia morph... |
ORPHA:2879 |
| Peho-Like Syndrome |
|
Short nose |
OMIM:617507 |
| Van Den Ende-Gupta Syndrome |
|
Narrow foot, Dislocated radial head, Femoral bowing, Short ribs, Pectus excavatum, Arachnodactyly... |
OMIM:600920 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Foot polydactyly, Phocomelia, Vertebral segmentation defect, Split hand |
ORPHA:3004 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Supernumerary tooth, Aplasia of the epiglottis, Short clavicles, Short ribs, Low-set ears, Short ... |
OMIM:617088 |
| Craniofacial-Deafness-Hand Syndrome |
|
Sensorineural hearing impairment, Short nose, Depressed nasal bridge, Narrow naris |
OMIM:122880 |
| Six2-Related Frontonasal Dysplasia |
|
Absent/hypoplastic paranasal sinuses, Wide anterior fontanel, Frontal bossing, Prominent palatine... |
ORPHA:488437 |
| Acromicric Dysplasia |
|
Anteverted nares, Short nose, Bulbous nose |
ORPHA:969 |
| Cleidocranial Dysplasia 2 |
|
Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossification of carpal bon... |
OMIM:620099 |
| Gm1-Gangliosidosis, Type Ii |
|
Optic atrophy, Gingival overgrowth, Narrow mouth, Protruding tongue |
OMIM:230600 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Wrist swelling, Metacarpal osteolysis, Abnormality of the wrist, Carpal osteolysis, Slender long ... |
ORPHA:2774 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of the temporomandibular joint, Facial palsy, Protruding tongue, Open mouth, Pachygyr... |
ORPHA:258 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Short nose, Choanal atresia, Hearing impairment, Posteriorly rotated ears, Bulbous nose, Depresse... |
ORPHA:284169 |
| Solar Urticaria |
|
Vertigo, Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
| Cartilage-Hair Hypoplasia |
|
Limited elbow extension, Asymmetry of the thorax, Narrow chest, Metaphyseal cupping, Scoliosis, F... |
OMIM:250250 |
| Hand-Foot-Genital Syndrome |
|
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... |
OMIM:140000 |
| Marshall-Smith Syndrome |
|
Short mandibular rami, Retrognathia, Prominent occiput, Proptosis, Glossoptosis, Microdontia, Sha... |
OMIM:602535 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Vertebral compression fracture, Slender long bone, Femoral retroversion, Sco... |
OMIM:610915 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
| Hartsfield Syndrome |
|
Hypotelorism, Hypoplasia of the frontal bone, Cleft upper lip, Cleft palate, Craniosynostosis, Hy... |
OMIM:615465 |
| Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Long face, Screwdriver-shaped incisors, Narrow face, Mulberry mo... |
OMIM:302350 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic oral candidiasis, Chronic active hepatitis, Chronic mucocutaneous candidiasis, Keratoconj... |
OMIM:240300 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Otofaciocervical Syndrome 1 |
|
Mixed hearing impairment, Hypoplasia of the cochlea, Conductive hearing impairment, Narrow nose, ... |
OMIM:166780 |
| Iniencephaly |
|
Syringomyelia, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bif... |
ORPHA:63259 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Delayed eruption of teeth, Increased bone mineral density, Abnormal de... |
ORPHA:1782 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septa... |
OMIM:620135 |
| Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Long philtrum, Large fontanelles, Triangular face, Hypotelorism, Wormian bones, High ... |
OMIM:612940 |
| Limb-Mammary Syndrome |
|
Clinodactyly of the 5th finger, Oligodactyly, Syndactyly, 3-4 finger cutaneous syndactyly, Toe sy... |
ORPHA:69085 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Death in infancy |
OMIM:614876 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Sacral dimple, Abnormal vertebral morphology, Proximal placement of thumb, Abnormality of the ver... |
OMIM:314390 |
| Trichothiodystrophy |
|
Osteopenia, Retrognathia, Bird-like facies, High, narrow palate, Hypotelorism, Multiple joint con... |
ORPHA:33364 |
| Marshall Syndrome |
|
Proptosis, Hypoplastic frontal sinuses, Long philtrum, Abnormality of the dentition, Frontal boss... |
ORPHA:560 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Large earlobe, Polydactyly, Syndactyly, Smooth philtrum |
OMIM:602501 |
| Baker-Gordon Syndrome |
|
Short nose, Prominent nasal tip |
OMIM:618218 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Triangular mouth, Gingival overgrowth, Low-set ears, Abnormality of the dentit... |
OMIM:618529 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Microtia, Choanal atresia, Broad skull, Microcephaly, Posteriorly rotated ears, Overhanging nasal... |
ORPHA:163979 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Talipes equinovarus, Tibial bowing,... |
ORPHA:251028 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal form of th... |
ORPHA:52 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Microtia, Delayed cranial suture closure, Low-set ears, Depressed nasal tip, Microcephaly, Microg... |
OMIM:620005 |
| Trisomy 8P |
|
Retrognathia, Short nose, Abnormal middle ear morphology, Anteverted nares, Aplasia/Hypoplasia of... |
ORPHA:264450 |
| Otopalatodigital Syndrome, Type Ii |
|
Kyphoscoliosis, Rocker bottom foot, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa... |
OMIM:304120 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormality of the hand, Abnormal vertebral morphology, Abnormality of the vertebral column, Olig... |
ORPHA:2273 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Short nose, Thin vermilion border, Short philtrum, Joint contracture of the 5th finge... |
ORPHA:363611 |
| Fanconi Anemia, Complementation Group O |
|
Hypoplasia of the radius, Proximal placement of thumb, Miscarriage, Death in infancy, Neonatal de... |
OMIM:613390 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Brachycephaly, Osteopenia, Long philtrum, High, narrow palate, Premature loss of teeth, Exaggerat... |
ORPHA:369837 |
| Triploidy |
|
Low-set, posteriorly rotated ears, Meningocele, Hydrocephalus, Non-midline cleft of the upper lip... |
ORPHA:3376 |
| Waardenburg Syndrome Type 1 |
|
Spina bifida, Meningocele |
ORPHA:894 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Cleft soft palate, Increased nuchal translucency, Uplifted earlobe, Pierre-Robin sequence, Thin u... |
OMIM:620183 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Carpal bone hypoplasia, Irregular epiphyses, Platyspondyly, Small epiphyses, Metaphyseal striatio... |
OMIM:610442 |
| Polysyndactyly With Cardiac Malformation |
|
Duplication of phalanx of hallux, Stillbirth, Syndactyly, Preaxial hand polydactyly |
OMIM:263630 |
| Faciocardiorenal Syndrome |
|
Plagiocephaly, Narrow mouth, Cleft palate, Smooth philtrum, Hypodontia, Hypertelorism, Wide nasal... |
ORPHA:1973 |
| Beckwith-Wiedemann Syndrome |
|
Abnormal earlobe morphology, Otosclerosis, Wide anterior fontanel, Mandibular prognathia, Promine... |
ORPHA:116 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Long nose, Short nose, Low hanging columella, Anteverted nares, Underdeveloped nasal alae, Low-se... |
OMIM:615866 |
| Dend Syndrome |
|
Thickened ears, Short nose, Anteverted nares |
ORPHA:79134 |
| Loeys-Dietz Syndrome |
|
Orofacial cleft, Joint dislocation, High palate, Camptodactyly of finger, Micrognathia, Bifid uvu... |
ORPHA:60030 |
| Chromosome 3Q29 Duplication Syndrome |
|
Short nose, Bulbous nose, Wide nasal bridge |
OMIM:611936 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Death in infancy |
OMIM:226700 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Radial deviation of finger, Anencephaly, Intestinal malrotation, Wide mo... |
OMIM:249000 |
| Cranioectodermal Dysplasia 1 |
|
High, narrow palate, Widely spaced teeth, Hypotelorism, Hypodontia, High palate, Everted lower li... |
OMIM:218330 |
| Vacterl/Vater Association |
|
Occipital encephalocele, Anencephaly, Abnormal intervertebral disk morphology, Finger syndactyly,... |
ORPHA:887 |
| Melnick-Needles Syndrome |
|
Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavat... |
OMIM:309350 |
| Constricting Bands, Congenital |
|
Encephalocele, Scoliosis, Hand polydactyly, Syndactyly, Abnormal rib cage morphology, Talipes equ... |
OMIM:217100 |
| Waardenburg Syndrome, Type 3 |
|
Scapular winging, Cutaneous finger syndactyly, Camptodactyly of finger, Brachydactyly, Clinodacty... |
OMIM:148820 |
| Mucopolysaccharidosis, Type Vi |
|
Kyphoscoliosis, Cervical myelopathy, Hypoplastic iliac wing, Pectus carinatum, Flared iliac wing,... |
OMIM:253200 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology |
ORPHA:2772 |
| Curry-Jones Syndrome |
|
Unicoronal synostosis, Bicoronal synostosis, Wormian bones, Lip pit, Facial asymmetry |
OMIM:601707 |
| Mosaic Trisomy 8 |
|
Deep palmar crease, Clinodactyly of the 5th finger, Narrow chest, Scoliosis, Vertebral segmentati... |
ORPHA:96061 |
| Lethal Congenital Contracture Syndrome 10 |
|
Adducted thumb, Stiff neck, Torticollis, Narrow chest, Femoral bowing, Short long bone, Broad rib... |
OMIM:617022 |
| Limb-Mammary Syndrome |
|
Split hand, Camptodactyly, Split foot, Syndactyly, Hallux valgus, Joint contracture of the hand |
OMIM:603543 |
| Myhre Syndrome |
|
Macrocephaly, Microtia, Mandibular prognathia, Low-set ears, Hearing impairment, Hypoplasia of th... |
OMIM:139210 |
| Joubert Syndrome 8 |
|
Occipital encephalocele, Molar tooth sign on MRI |
OMIM:612291 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Triphalangeal thumb, Preaxial foot polydactyly, Postaxial hand polydactyly |
ORPHA:2091 |
| Grange Syndrome |
|
Short palm, Syndactyly |
ORPHA:79094 |
| Stickler Syndrome Type 1 |
|
Sensorineural hearing impairment, Short nose |
ORPHA:90653 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Thoracolumbar scoliosis, Sprengel anomaly, Cervical ribs |
OMIM:601389 |
| Genitopalatocardiac Syndrome |
|
Non-midline cleft of the upper lip, Scoliosis, Low-set ears, Postaxial hand polydactyly, Kyphosis... |
ORPHA:2075 |
| 3C Syndrome |
|
Abnormal hip bone morphology, Finger syndactyly, Scoliosis, Hemivertebrae, Kyphosis, Missing ribs... |
ORPHA:7 |
| Campomelic Dysplasia |
|
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pect... |
OMIM:114290 |
| Coach Syndrome 1 |
|
Growth delay, Occipital encephalocele, Molar tooth sign on MRI, Encephalocele |
OMIM:216360 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly, Intrauterine growth retardation, Hydrocephalus |
ORPHA:858 |
| Momo Syndrome |
|
Brachycephaly, Thick lower lip vermilion, Delayed eruption of teeth, High palate, Frontal bossing... |
OMIM:157980 |
| Cree Mental Retardation Syndrome |
|
Webbed neck, Cleft soft palate, Low-set ears, Micrognathia, Posteriorly rotated ears |
OMIM:606851 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Anteverted nares, Short nose, Low-set ears, Overfolded helix |
OMIM:613735 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Popliteal pterygium, Finger syndactyly, Scoliosis, Split hand, Abnormal rib morphology, Toe synda... |
ORPHA:1300 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Widely spaced teeth, Wide anterior fontanel, High palate, Microdontia, Prominent meto... |
OMIM:266920 |
| Joubert Syndrome 2 |
|
Molar tooth sign on MRI, Encephalocele, Elongated superior cerebellar peduncle, Hydrocephalus, Br... |
OMIM:608091 |
| Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Molar tooth sign on MRI, Dextrocardia, Encephalocele |
ORPHA:220493 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Kyphoscoliosis, Calcaneovalgus deformity, Camptodactyly, Pectus excavatum, Metatarsus adductus, A... |
OMIM:612513 |
| Schizophrenia 1 |
|
Short proximal phalanx of the 4th toe, Syndactyly |
OMIM:181510 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Amelia, Clinodactyly of the 5th finger, Syndactyly |
OMIM:601163 |
| Congenital Syphilis |
|
Periostitis, Osteochondrosis, Notched primary central incisor, High palate, Synovitis, Frontal bo... |
ORPHA:499009 |
| Grant Syndrome |
|
Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
| Aspartylglucosaminuria |
|
Chronic otitis media, Short nose, Arthritis, Microtia, Mandibular prognathia, Carious teeth, Wide... |
ORPHA:93 |
| Shwachman-Diamond Syndrome 1 |
|
Narrow greater sciatic notch, Enlargement of the costochondral junction, Metaphyseal sclerosis, N... |
OMIM:260400 |
| Periventricular Nodular Heterotopia 1 |
|
Short finger, Clinodactyly, Syndactyly |
OMIM:300049 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... |
ORPHA:2256 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Retrognathia, Microtia, Microcephaly, Craniosynostosis, Pterygium, Anteverted nares, Choanal atre... |
OMIM:616462 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Short nose, Low-set ears, Posteriorly rotated ears, Bulbous nose, Depressed nasal bridge |
OMIM:618430 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Short tibia, Talipes equinovarus |
OMIM:620306 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Bilateral single transverse palmar creases, Scoliosis, Synostosis of carpal bones, Kyphosis, Shor... |
ORPHA:3191 |
| Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Molar tooth sign on MRI, Encephalocele |
ORPHA:2318 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Sensorineural hearing impairment, Femoral bowing, Glossoptosis, Dumbbell-shaped long ... |
ORPHA:440354 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Abnormal vertebral morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:93473 |
| Arterial Tortuosity Syndrome |
|
Short nose, Abnormal zygomatic bone morphology, Long face, Median cleft palate, Malar flattening,... |
ORPHA:3342 |
| Camptobrachydactyly |
|
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly |
OMIM:114150 |
| Adnp Syndrome |
|
Advanced eruption of teeth, Microtia, Low-set ears, Microcephaly, Recurrent upper respiratory tra... |
ORPHA:404448 |
| Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Rhizomelia, Scoliosis,... |
ORPHA:1190 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pectus excavatum, Pseudoarthrosis |
OMIM:607278 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Retrognathia, High, narrow palate, Spina bifida occulta, Delayed eruption of teeth, Low-set ears,... |
ORPHA:2780 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Short nose, Abnormal pinna morphology, Macrotia, Recurrent upper respiratory tract infections, Pr... |
ORPHA:3078 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short metatarsal, Slender long bone,... |
OMIM:170390 |
| Mucolipidosis Type Ii |
|
Limited wrist movement, Gingival overgrowth, Limitation of joint mobility, Restricted chest movem... |
ORPHA:576 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Simplified gyral pattern, Microglossia |
OMIM:616540 |
| Congenital Disorder Of Glycosylation, Type 2V |
|
Retrognathia, Short philtrum, High palate, Low-set ears, Low posterior hairline, Cleft palate, Th... |
OMIM:619493 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Del... |
OMIM:101800 |
| Kapur-Toriello Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Single transverse palmar... |
OMIM:244300 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Short nose, Bilateral conductive hearing impairment, Low-set ears, Depressed nasal bridge |
OMIM:617802 |
| Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Mixed hearing impairment, Sensorineural hearing impairment, Ab... |
ORPHA:2363 |
| Joubert Syndrome With Renal Defect |
|
Hydrocephalus, Molar tooth sign on MRI, Encephalocele |
ORPHA:220497 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly, Hearing impairment, Wide mouth, Posteriorly rotated ears, Prominent antihelix,... |
ORPHA:466950 |
| Fraser Syndrome 1 |
|
Abnormal middle ear morphology, Cleft ala nasi, Wide nose, Abnormal pinna morphology, Underdevelo... |
OMIM:219000 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Wide anterior fontanel, Delayed cranial suture closure, High palate, A... |
ORPHA:235 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Bilateral choanal atresia, Atresia of the external auditory canal, Conductive hearing impairment,... |
OMIM:106260 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Limited pronation/... |
OMIM:605432 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Short nose |
ORPHA:2429 |
| Orofaciodigital Syndrome I |
|
Myelomeningocele, Tongue nodules, Alveolar ridge overgrowth, Abnormal cortical gyration, Hydrocep... |
OMIM:311200 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Small placenta, Clinodactyly of the 5th finger, Low-set ears, Ectrodactyly, Cleft pa... |
ORPHA:397590 |
| Opitz Gbbb Syndrome |
|
Rectourethral fistula, Solitary median maxillary central incisor, Wide anterior fontanel, High pa... |
OMIM:300000 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Asymmetry of the thorax, Finger syndactyly, Scoliosis, Pectus excavatum, Kyphosis, Genu varum |
ORPHA:1969 |
| Acrocallosal Syndrome |
|
Sensorineural hearing impairment, Wide anterior fontanel, Triphalangeal thumb, Postaxial hand pol... |
ORPHA:36 |
| Deafness-Craniofacial Syndrome |
|
Abnormal palate morphology, Short philtrum, Sensorineural hearing impairment, Short lingual frenu... |
ORPHA:3241 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Short nose, Low-set ears, Hearing impairment, Macrotia, Bulbous nose, Wide nasal bridge, Depresse... |
ORPHA:369891 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal enchondromatosis, Metaphyseal irregularity, Metaphyseal chondromatosis of radius, Gen... |
ORPHA:99646 |
| Acrofacial Dysostosis 1, Nager Type |
|
Limited elbow extension, Retrognathia, Aganglionic megacolon, Trismus, Temporomandibular joint an... |
OMIM:154400 |
| Acropectoral Syndrome |
|
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx |
OMIM:605967 |
| Menke-Hennekam Syndrome 1 |
|
Short nose, Narrow nasal bridge, Anteverted nares, Absent earlobe, Underdeveloped nasal alae, Low... |
OMIM:618332 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Irregular epiphyses, Early oss... |
OMIM:208500 |
| Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Anosmia, Abnormal morpholog... |
OMIM:611584 |
| X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
| Ectrodactyly-Polydactyly |
|
Split foot, Split hand, Postaxial hand polydactyly |
OMIM:225290 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Retrognathia, Cleft soft palate, Short philtrum, Underdeveloped antitragus, Posteriorly rotated e... |
ORPHA:293725 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly, Sensorineural hearing impairment |
OMIM:615824 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Diaphyseal undertubulation, Spina bifida occulta, Flared metaphysis, Knee flexion contracture, Hy... |
OMIM:151050 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... |
OMIM:602418 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, Kyphosis |
OMIM:618237 |
| Craniolenticulosutural Dysplasia |
|
Osteopenia, Long philtrum, Delayed eruption of teeth, Wide anterior fontanel, High palate, Hypopl... |
OMIM:607812 |
| Fraser Syndrome |
|
Orofacial cleft, Anal stenosis, Low-set, posteriorly rotated ears, Encephalocele, Dental crowding... |
ORPHA:2052 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose |
ORPHA:2598 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Abnormal thumb morphology, Radial club hand, Triphalangeal thumb, Sandal ... |
ORPHA:959 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Sandal gap, Single transverse palmar crease, Micromelia, Broad hallux, Syndactyly, Brachydactyly,... |
OMIM:614800 |
| Meckel Syndrome, Type 2 |
|
Polydactyly, Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly, Bowing of the l... |
OMIM:603194 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Anteverted nares, Short nose, Low-set, posteriorly rotated ears |
ORPHA:1185 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Neonatal death, Hypertrophic cardiomyopathy |
OMIM:614096 |
| Recombinant 8 Syndrome |
|
Chronic otitis media, Abnormality of the neck, Bilateral single transverse palmar creases, Clinod... |
ORPHA:96167 |
| Baraitser-Winter Syndrome 1 |
|
Short nose, Sensorineural hearing impairment, Anteverted nares, Low-set ears, Overfolded helix, W... |
OMIM:243310 |
| Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
| Duplication Of The Pituitary Gland |
|
Short stature, Encephalocele, Abnormal midbrain morphology |
ORPHA:314621 |
| 14Q22Q23 Microdeletion Syndrome |
|
Hearing impairment, Atresia of the external auditory canal, Micrognathia, Optic nerve aplasia, Po... |
ORPHA:264200 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Flat occiput, Bilateral cleft palate, Micrognathia, Flat face, Hypertelorism, Bifid tongue |
ORPHA:2001 |
| Pyknoachondrogenesis |
|
Short iliac bones, Webbed neck, Abnormal iliac wing morphology, Short thorax, Short long bone, Sh... |
ORPHA:3003 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing |
OMIM:156232 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Molar tooth sign on MRI, Hypoplastic left heart |
OMIM:619562 |
| Polydactyly-Myopia Syndrome |
|
Postaxial hand polydactyly |
ORPHA:2917 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu valgum, Fibular bowing, Rickets of the lower limbs, Delayed epiphyseal ossification, Tibial ... |
OMIM:600785 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Low-set ears, Broad col... |
OMIM:619383 |
| Hyperlysinemia |
|
Hypotelorism, High palate, Abnormal facial shape, Smooth philtrum, Craniosynostosis |
ORPHA:2203 |
| Laurence-Moon Syndrome |
|
Bilateral single transverse palmar creases, Hand polydactyly, Finger syndactyly, Brachydactyly |
ORPHA:2377 |
| Renpenning Syndrome |
|
Abnormal thumb morphology, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphol... |
ORPHA:3242 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Protruding ear, Short nose |
OMIM:615539 |
| Kenny-Caffey Syndrome, Type 1 |
|
Calvarial osteosclerosis, Decreased skull ossification, Carious teeth, Hypertelorism, Delayed clo... |
OMIM:244460 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Long philtrum, Widely spaced teeth, Triangular mouth, High palate, Frontal bossing, Bifid uvula, ... |
OMIM:617506 |
| 3Mc Syndrome 3 |
|
Tessier cleft, Preaxial polydactyly, Sacral dimple, Abnormal pinna morphology, Auricular pit, Hea... |
OMIM:248340 |
| Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Clubbing of fingers, Hypoplastic pubic bone, Short ribs, Narrow mouth, Low-set ear... |
ORPHA:1865 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno... |
ORPHA:95699 |
| Ellis-Van Creveld Syndrome |
|
Genu valgum, Talipes equinovarus, Delayed eruption of teeth, Narrow chest, Hypoplastic iliac wing... |
OMIM:225500 |
| Mucopolysaccharidosis, Type Iiia |
|
Scoliosis, Ovoid thoracolumbar vertebrae, Thickened ribs |
OMIM:252900 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose |
ORPHA:833 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Macrotia, Short nose, Wide nasal bridge |
OMIM:218000 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Increased arm span, Thin metacarpal cortices, Lumbar hemivertebrae, Slender long bone, Thin metat... |
ORPHA:2463 |
| Mosaic Trisomy 1 |
|
Rocker bottom foot, Deviation of the 5th toe, Knee joint hypermobility, Broad 2nd toe, Single tra... |
ORPHA:1692 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... |
OMIM:113310 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Periodontitis, Hyperextensibility of the finger joints, Mandibular prognathia, Abnorm... |
OMIM:231070 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Redundant neck skin, Proximal placement of thumb, Narrow chest, Short palm, Syndactyly, Brachydac... |
OMIM:217980 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Fibular bowing, Enlargement of the costochondral junction, Enlargement of the wrists, Delayed epi... |
OMIM:241530 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis, Microtia |
ORPHA:276280 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly, Kyphosis, Thoracic scoliosis |
OMIM:603387 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short nose, Anteverted nares, Low-set ears, Conductive hearing impairment, Posteriorly rotated ears |
OMIM:617877 |
| Charge Syndrome |
|
Abnormal pinna morphology, Microtia, Tracheoesophageal fistula, Umbilical hernia, Optic atrophy, ... |
ORPHA:138 |
| Slc39A8-Cdg |
|
Osteopenia, Elbow flexion contracture, Knee flexion contracture, Flat face, Craniosynostosis |
ORPHA:468699 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Bowing of the long bones, Cleft... |
OMIM:611561 |
| Orofaciodigital Syndrome Type 6 |
|
Preaxial polydactyly, Finger clinodactyly, Low-set, posteriorly rotated ears, Mesoaxial polydacty... |
ORPHA:2754 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Amelogenesis Imperfecta, Type Ic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:204650 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Retrognathia, Short philtrum, High palate, Furrowed tongue, Everted lower lip vermilion, Low-set ... |
OMIM:616449 |
| Joubert Syndrome 17 |
|
Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Microtia, Choanal atresia, Depressed nasal tip, Hypoplasia of the maxilla, Blepharitis, Conductiv... |
OMIM:129900 |
| Short-Rib Thoracic Dysplasia 12 |
|
Short finger, Anencephaly, Narrow chest, Short thorax, Short long bone, Short ribs, Thoracic dysp... |
OMIM:269860 |
| Kinsship Syndrome |
|
Dislocated radial head, Mesomelia, Wide mouth, Cervical ribs, Coxa valga, Hip dislocation, Polyda... |
OMIM:619297 |
| Osteogenesis Imperfecta, Type Vii |
|
Rhizomelia, Crumpled long bones, Vertebral compression fracture, Femoral retroversion, Narrow che... |
OMIM:610682 |
| Wiedemann-Steiner Syndrome |
|
Sacral dimple, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Scoliosis, Low posterior hairl... |
OMIM:605130 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Macrocephaly, Optic nerve hypoplasia, Microtia, Anteverted nares, Relative macrocephaly, Hearing ... |
OMIM:620455 |
| Cardioacrofacial Dysplasia 2 |
|
Genu valgum, Clinodactyly of the 5th finger, Short philtrum, Conical tooth, Clubbing, Postaxial h... |
OMIM:619143 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Conical incisor, Carious teeth, Enamel hypoplasia |
OMIM:614564 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... |
OMIM:313500 |
| Lethal Congenital Contracture Syndrome 1 |
|
Micrognathia, Abnormal thorax morphology, Neonatal death, Widening of cervical spinal canal |
OMIM:253310 |
| W Syndrome |
|
Cubitus valgus, Broad uvula, Camptodactyly, Upper lip pit, Submucous cleft hard palate, Elbow dis... |
ORPHA:2804 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Prominent calcaneus, Scoliosis, Ankle clonus |
ORPHA:565624 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Distal shortening of limbs, Spina bifida occulta, Webbed neck, Abnormal rib morphology, Broad fem... |
ORPHA:488434 |
| 2Q37 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Finger syndactyly, Sh... |
ORPHA:1001 |
| Trichohepatoenteric Syndrome 1 |
|
Large placenta, Microtia, Narrow mouth, Low-set ears, Bifid uvula, Wide mouth, Long philtrum, Vil... |
OMIM:222470 |
| Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Spina bifida |
OMIM:616038 |
| Cri-Du-Chat Syndrome |
|
Short metatarsal, Single transverse palmar crease, Scoliosis, High axial triradius, Short metacar... |
OMIM:123450 |
| Desmosterolosis |
|
Retrognathia, Abnormal cortical gyration, Abnormal earlobe morphology, Low-set, posteriorly rotat... |
ORPHA:35107 |
| Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Proptosis, Bifid uvula, Broad philtrum, Long philtrum, Impacted ... |
OMIM:211380 |
| Arthrogryposis, Distal, Type 12 |
|
Ankle flexion contracture, Agenesis of maxillary incisor, Dental crowding, High palate, Congenita... |
OMIM:620545 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Brachycephaly, Thin vermilion border, Short philtrum, Proximal radio-ulnar synostosis, Round face... |
ORPHA:2062 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Broad ribs |
ORPHA:2519 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... |
OMIM:610532 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, High palate, Furrowed tongue, Hypoplasia of the maxilla, Macrotia, Microgn... |
OMIM:300534 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Short nose, Anteverted ears |
OMIM:618087 |
| Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
| Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Syndactyly, Brachydactyly |
OMIM:616589 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Kyphoscoliosis, High, narrow palate, Thick lower lip vermilion, Webbed neck, Vertebral compressio... |
OMIM:309583 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Sensorineural hearing impairment, Cleft lip, Cleft palate |
OMIM:612370 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Hearing impairment, Optic atrophy, Cochlear degeneration, Head tremor |
ORPHA:95433 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Abnormal brainstem morphology, Hydrocephalus, Cardiomyopathy, Hypoplasia... |
ORPHA:370959 |
| Doors Syndrome |
|
Prominent occiput, Broad alveolar ridges, Long philtrum, Narrow palate, Abnormality of the dentit... |
ORPHA:79500 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Scoliosis, Camptodactyly, Rib fusio... |
OMIM:607872 |
| Meckel Syndrome, Type 3 |
|
Polydactyly, Occipital encephalocele, Postaxial hand polydactyly, Cleft palate, Postaxial foot po... |
OMIM:607361 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hand tremor, Macrocephaly, Anteverted nares, Flared nostrils, Low-set ears, Short ear, Micrognath... |
OMIM:614756 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Kyphoscoliosis, Cervical ribs, Slender long bone, Hemivertebrae, Arachnodactyly, Absent thumb, Ri... |
ORPHA:500150 |
| Arteriosclerosis, Severe Juvenile |
|
Short phalanx of finger, Dysplasia of second lumbar vertebra, Hip dysplasia |
OMIM:208060 |
| Gómez-López-Hernández Syndrome |
|
Abnormal brainstem morphology, Hydrocephalus, Short stature |
ORPHA:1532 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Microtia |
ORPHA:158684 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting |
OMIM:615709 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Long philtrum, Overlapping toe, Sacral dimple, Low-set, posteriorly rotated ears, Tooth malpositi... |
ORPHA:480880 |
| Mucopolysaccharidosis, Type Iiic |
|
Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Thickened ribs, Beaking of vertebral bodies |
OMIM:252930 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Abn... |
OMIM:192350 |
| Cleidocranial Dysplasia 1 |
|
Delayed pubic bone ossification, Hypoplastic frontal sinuses, Persistent open anterior fontanelle... |
OMIM:119600 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Orofacial cleft, 2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndact... |
OMIM:217085 |
| Joubert Syndrome 23 |
|
Polydactyly, Sensorineural hearing impairment |
OMIM:616490 |
| Renal And Mullerian Duct Hypoplasia |
|
Frontal bossing, Micrognathia, Hypertelorism, Short nose |
OMIM:266810 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
| Oculodentodigital Dysplasia |
|
Abnormal metaphysis morphology, Abnormal clavicle morphology, Palmoplantar keratoderma, Clinodact... |
ORPHA:2710 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Holoprosencephaly, Cleft palate, Low-set ears, Median cleft upper lip |
ORPHA:2165 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Short neck, Hand clenching, Neonatal death, Death in infancy |
OMIM:616342 |
| Dystonia-Deafness Syndrome 1 |
|
Kyphoscoliosis, Femoral retroversion, Sensorineural hearing impairment, Cleft upper lip, Cleft pa... |
OMIM:607371 |
| Schwartz-Jampel Syndrome |
|
Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Wrist flexion contr... |
ORPHA:800 |
| Microcephaly-Capillary Malformation Syndrome |
|
Hearing impairment, Short nose, Low-set ears, Wide nose |
OMIM:614261 |
| Frank-Ter Haar Syndrome |
|
Kyphoscoliosis, Redundant neck skin, Flared metaphysis, Broad clavicles, Anterior concavity of th... |
OMIM:249420 |
| Occipital Horn Syndrome |
|
Limited elbow extension, Long neck, Genu valgum, Narrow chest, Short clavicles, Pectus carinatum,... |
OMIM:304150 |
| Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Thickened ribs |
OMIM:252920 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Scoliosis, La... |
OMIM:619269 |
| Tukel Syndrome |
|
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia |
OMIM:609428 |
| Trisomy 20P |
|
Platyspondyly, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Finger syndac... |
ORPHA:261318 |
| Mucopolysaccharidosis Type 3 |
|
Chronic otitis media, Optic atrophy, Mixed hearing impairment, Genu valgum, Macrocephaly, Craniof... |
ORPHA:581 |
| Arboleda-Tham Syndrome |
|
Plagiocephaly, Enlarged proximal interphalangeal joints, Genu valgum, Triangular face, Short phil... |
OMIM:616268 |
| Acromelic Frontonasal Dysostosis |
|
Patellar hypoplasia, Encephalocele, Mesomelic leg shortening, Syndactyly, Preaxial hand polydacty... |
OMIM:603671 |
| Unilateral Ocular Duplication |
|
Abnormality of the fontanelles or cranial sutures, Frontal bossing, Dolichocephaly, Cleft palate,... |
ORPHA:3374 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short nose, Wide nose, Depressed nasal ridge |
ORPHA:2831 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Esophageal varix, Postaxial polydactyly, Enamel hypoplasia, Inflammation of the large intestine, ... |
OMIM:614576 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Transverse facial cleft, Hydrocephalus, Sensorineural hearing impairment... |
OMIM:164210 |
| Xylt1-Cdg |
|
Joint dislocation, Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short femora... |
ORPHA:370930 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Hydrocephalus |
OMIM:300886 |
| Cohen Syndrome |
|
Genu valgum, Cubitus valgus, Abnormal hip bone morphology, Sandal gap, Clinodactyly of the 5th fi... |
ORPHA:193 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Sensorineural hearing impairment, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted l... |
OMIM:608670 |
| Distal Deletion 3P |
|
Abnormal vestibulo-ocular reflex, Thin vermilion border, Sacral dimple, Clinodactyly of the 5th f... |
ORPHA:1620 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Umbilical hernia, Pericardial effusion, Congenital hypertrophy of left ven... |
OMIM:239850 |
| Silver-Russell Syndrome 1 |
|
Clinodactyly of the 5th finger, Delayed cranial suture closure, Short middle phalanx of the 5th f... |
OMIM:180860 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Long nose, Short nose, Small earlobe, Microtia, Anteverted nares, Low-set ears, Exaggerated start... |
OMIM:619522 |
| Conotruncal Heart Malformations |
|
Postaxial polydactyly, Broad hallux |
OMIM:217095 |
| Acheiropodia |
|
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... |
ORPHA:931 |
| 16P12.1P12.3 Triplication Syndrome |
|
Large earlobe, Short nose, Bulbous nose, Low-set ears |
ORPHA:485405 |
| Mulibrey Nanism |
|
Hepatomegaly, Pericardial constriction, Short stature, Growth delay, Myocardial fibrosis, Cardiom... |
OMIM:253250 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Short nose, Low-set ears, Protruding ear, Bulbous nose, Wide nasal bridge |
OMIM:618571 |
| Monosomy 9Q22.3 |
|
Polydactyly, Palmar pits, Delayed eruption of teeth, Abnormality of the vertebral column, Metopic... |
ORPHA:77301 |
| Orofaciodigital Syndrome Type 1 |
|
Chronic otitis media, Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Cone-shaped... |
ORPHA:2750 |
| Cerebrocostomandibular Syndrome |
|
Anomalous rib insertion to vertebrae, Glossoptosis, Short humerus, Long philtrum, 10 pairs of rib... |
OMIM:117650 |
| Ablepharon-Macrostomia Syndrome |
|
Aplastic zygomatic arch, Microtia, third degree, Low-set ears, Hearing impairment, Microtia, firs... |
OMIM:200110 |
| Apert Syndrome |
|
Optic atrophy, Delayed eruption of teeth, Sensorineural hearing impairment, Mandibular prognathia... |
ORPHA:87 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Tarsal synostosis, Patellar hypoplasia, Sandal gap, Flat capital femoral epiphysis, High palate, ... |
OMIM:147891 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Polydactyly, Scoliosis, Short long bone, Brachydactyly |
OMIM:613819 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Cleft palate, Umbilic... |
ORPHA:2505 |
| Periventricular Nodular Heterotopia 7 |
|
Sensorineural hearing impairment, Short nose, Anteverted nares |
OMIM:617201 |
| Burning Mouth Syndrome |
|
Abnormality of somatosensory evoked potentials, Smooth tongue, Tongue pain, Abnormality of taste ... |
ORPHA:353253 |
| Teebi-Shaltout Syndrome |
|
Rocker bottom foot, Caudal appendage, Single transverse palmar crease, Pectus carinatum, Pectus e... |
OMIM:272950 |
| Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Encephalocele, 2-3 toe syndactyly, Hemivertebrae, Low-set ears, Postaxial hand ... |
OMIM:264480 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Protruding ear, Abnormality of the philtrum, Low-set ears, Microdontia, Cleft upper lip, Microgna... |
OMIM:225060 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Wide anterior fontanel, Long philtrum, Sagittal craniosynostosis, Thin upper lip verm... |
OMIM:610199 |
| X-Linked Agammaglobulinemia |
|
Chronic otitis media, Sensorineural hearing impairment, Glossoptosis |
ORPHA:47 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Retrognathia, Dental crowding, Umbilical hernia, Long philtrum, Narrow palate, Triangular mouth, ... |
OMIM:180700 |
| Methylcobalamin Deficiency Type Cble |
|
Scoliosis, Clinodactyly, Syndactyly |
ORPHA:2169 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy |
ORPHA:496689 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Anteverted nares, Short nose |
OMIM:619854 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Submucous cleft ha... |
OMIM:617660 |
| Loeys-Dietz Syndrome 1 |
|
Spondylolisthesis, Scoliosis, High palate, Cervical spine instability, Low-set ears, Postaxial ha... |
OMIM:609192 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Anteverted nares, Short nose, Depressed nasal bridge |
OMIM:618961 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Craniosynostosis, Smooth tongue, Oral mucosal blisters |
ORPHA:79396 |
| Distal Duplication 17Q |
|
Genu valgum, Rhizomelia, Low-set, posteriorly rotated ears, Short philtrum, Scoliosis, High palat... |
ORPHA:3379 |
| 5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Short nose |
ORPHA:228384 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Abnormal rib morphology, Congenital hip dislocation, Missing ribs, Aplasia/Hyp... |
ORPHA:1647 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Short nose, Overfolded helix, Macrotia, Bulbous nose, Wide nasal bridge, Depressed nasal bridge |
OMIM:617061 |
| Holoprosencephaly 9 |
|
Solitary median maxillary central incisor, Bilateral cleft palate, Optic nerve hypoplasia, Underd... |
OMIM:610829 |
| Diamond-Blackfan Anemia |
|
Microtia, Low-set ears, Microcephaly, Micrognathia, Wide nasal bridge, Depressed nasal bridge |
ORPHA:124 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Narrow mouth, High palate, Low-set ears, Micrognathia, Cleft palate, Posteriorly rotated ears, Lo... |
OMIM:156610 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Microtia, Choanal atresia, Depressed nasal tip, Hearing impairment, Blepharitis, Carious teeth, H... |
OMIM:604292 |
| Mend Syndrome |
|
Polydactyly, Overlapping fingers, Redundant neck skin, Sacral dimple, 2-3 toe syndactyly, High pa... |
OMIM:300960 |
| Peters-Plus Syndrome |
|
Broad neck, Umbilical hernia, Long philtrum, Agenesis of maxillary lateral incisor, Bilateral cle... |
OMIM:261540 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Tongue atrophy |
ORPHA:216873 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Congenital bilateral hip dislocation, Syndactyly |
ORPHA:404451 |
| Waardenburg Syndrome Type 3 |
|
Abnormal finger morphology, Abnormality of the upper limb, Synostosis of carpal bones, Camptodact... |
ORPHA:896 |
| Oncogenic Osteomalacia |
|
Abnormal fibula morphology, Abnormal vertebral morphology, Abnormal femur morphology, Abnormal fo... |
ORPHA:352540 |
| Bohring-Opitz Syndrome |
|
Deep plantar creases, Sacral dimple, Deep palmar crease, Joint dislocation, Dislocated radial hea... |
OMIM:605039 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndactyly, 2-4 finger syndact... |
OMIM:613573 |
| Joubert Syndrome 24 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Talipes equinovarus |
OMIM:616654 |
| Polydactyly, Postaxial, Type A6 |
|
Abnormal dental morphology, Broad phalanges of the 5th finger, Postaxial foot polydactyly, Postax... |
OMIM:615226 |
| Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Hydrocephalus |
OMIM:269920 |
| Donnai-Barrow Syndrome |
|
Short nose, Sensorineural hearing impairment, Low-set ears, Hearing impairment, Broad nasal tip, ... |
OMIM:222448 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Dermal sinus tract, Tethered cord, Myelome... |
OMIM:600145 |
| C Syndrome |
|
Short nose, Low-set, posteriorly rotated ears, Joint dislocation, Dislocated radial head, Antever... |
ORPHA:1308 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Kyphosis, Broad thumb, Mesomelia, Syndactyly, Long philtrum, Clinodactyly, Sacral dimple, Triangu... |
OMIM:616894 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Retrognathia, Narrow mouth, High palate, Low-set ears, Micrognathia, Cleft palate, Protruding ear... |
OMIM:301091 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Short nose, Wide nose, Sensorineural hearing impairment, Anteverted nares, Macrotia |
ORPHA:391408 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Large earlobe, Short nose, Wide nose |
OMIM:615851 |
| Boomerang Dysplasia |
|
Absent radius, Fibular aplasia, Neonatal death, Hypoplastic iliac body |
OMIM:112310 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Long philtrum, Thin vermilion border, Conical incisor, Maxillary lateral incisor micr... |
ORPHA:73223 |
| Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Short philtrum, Sensorineural hearing impairment, Hypoplasia o... |
ORPHA:96129 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly, Cleft upper lip, Cleft palate |
OMIM:615849 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Protruding ear, Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal dental en... |
ORPHA:1071 |
| Premature Aging Syndrome, Penttinen Type |
|
Cervical ribs, Delayed eruption of teeth, Slender long bone, Scoliosis, Tibial bowing, Osteolytic... |
OMIM:601812 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Redundant neck skin, Large placenta, Single transverse palmar crease, Prominent sternum, Wrist fl... |
ORPHA:254528 |
| Intellectual Disability-Strabismus Syndrome |
|
Short nose, Recurrent otitis media, Narrow nasal ridge, Low-set ears, Hearing impairment, Macroti... |
ORPHA:363528 |
| Fetal Alcohol Syndrome |
|
Anteverted nares, Short nose, Low-set, posteriorly rotated ears |
ORPHA:1915 |
| Bardet-Biedl Syndrome 6 |
|
Postaxial polydactyly, Syndactyly |
OMIM:605231 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal vertebral morphology, Abnormality of t... |
OMIM:184705 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Talipes, Finger syndactyly, Synostosis of joints, Aplasia/Hypoplasia of the ... |
ORPHA:1234 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Thin ribs |
ORPHA:456328 |
| Nail-Patella Syndrome |
|
Sensorineural hearing impairment, Disproportionate prominence of the femoral medial condyle, Scol... |
OMIM:161200 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Short nose, Anteverted nares, Low-set ears, Macrotia, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:613026 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Overlapping fingers, Finger syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Broa... |
ORPHA:464738 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Short nose, Low-set ears, Depressed nasal bridge |
OMIM:608776 |
| Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Triangular mouth, Sensorineural hearing impairment, Scoliosis, Postaxial polydacty... |
OMIM:618460 |
| Rhombencephalosynapsis |
|
Polydactyly, Aganglionic megacolon, Esophageal atresia, Low-set, posteriorly rotated ears, Finger... |
ORPHA:59315 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Neural tube defect, Clinodactyly |
OMIM:119580 |
| Warburg Micro Syndrome 2 |
|
Macrotia, Short nose, Prominent nasal bridge, Asymmetry of the ears |
OMIM:614225 |
| Isolated Posterior Meningocele |
|
Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Tethered cord,... |
ORPHA:268810 |
| Duane Retraction Syndrome |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Stenosis of the external auditory ca... |
ORPHA:233 |
| Focal Dermal Hypoplasia |
|
Finger syndactyly, Short clavicles, Scoliosis, Short ribs, Split hand, Hypoplastic pelvis, Split ... |
ORPHA:2092 |
| Frontofacionasal Dysplasia |
|
Short nose, Dimple on nasal tip, Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Depress... |
ORPHA:1791 |
| Rapp-Hodgkin Syndrome |
|
Recurrent otitis media, Conical tooth, Stenosis of the external auditory canal, Narrow mouth, Mic... |
OMIM:129400 |
| Achondrogenesis |
|
Anteverted nares, Short nose |
ORPHA:932 |
| Trisomy 1Q |
|
Short thorax, Abnormal rib morphology, Increased nuchal translucency, Arachnodactyly, Camptodacty... |
ORPHA:261344 |
| Frontometaphyseal Dysplasia 2 |
|
Dislocated radial head, Sensorineural hearing impairment, Abnormal pinna morphology, Short metaca... |
OMIM:617137 |
| Neu-Laxova Syndrome 1 |
|
Rocker bottom foot, Short umbilical cord, Stillbirth, Broad neck, Small placenta, Radial deviatio... |
OMIM:256520 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Reduced bone mineral density, Delayed eruption of teeth, Premature loss of primary... |
ORPHA:667 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Anteverted nares, Short nose, Low-set ears, Depressed nasal bridge |
ORPHA:314655 |
| X Small Rings |
|
Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syndactyly, Low posterior hairlin... |
ORPHA:96201 |
| Gm1-Gangliosidosis, Type I |
|
Beaking of vertebral bodies, Scoliosis, Kyphosis, Hypoplastic vertebral bodies, Short neck, Thick... |
OMIM:230500 |
| Oligomeganephronia |
|
Hearing impairment, Micrognathia, Branchial cyst, Optic disc coloboma |
ORPHA:2260 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose |
ORPHA:1389 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Retrognathia, Esophageal atresia, Webbed neck, Spina bifida occulta, Low-set ears, Tracheoesophag... |
OMIM:619227 |
| Weill-Marchesani Syndrome 1 |
|
Broad phalanges of the hand, Scoliosis, Broad metacarpals, Broad metatarsal, Spinal canal stenosi... |
OMIM:277600 |
| Adenylosuccinase Deficiency |
|
Anteverted nares, Short nose, Low-set ears |
OMIM:103050 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Short nose, Prominent nasal bridge, Wide nasal bridge |
ORPHA:401935 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor, Frontal bossing |
OMIM:300291 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia |
OMIM:165590 |
| Congenital Myopathy 22B, Severe Fetal |
|
Spinal rigidity, Tapered toe, Slender long bone, Shoulder flexion contracture, Scoliosis, Elbow f... |
OMIM:620369 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Furrowed tongue |
ORPHA:2743 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:210548 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Abnormal facial shape, Micrognathia, Long philtrum, Dental malocclusion, ... |
ORPHA:444072 |
| Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Short nose, Wide nasal bridge |
OMIM:618437 |
| Ohdo Syndrome, Sbbys Variant |
|
Low-set ears, Microdontia, Hearing impairment, Micrognathia, Cleft palate, Posteriorly rotated ea... |
OMIM:603736 |
| Mend Syndrome |
|
Sacral dimple, Wide anterior fontanel, 2-3 toe syndactyly, High palate, Abnormal auditory evoked ... |
ORPHA:401973 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hearing impairment, Atresia of the external auditory canal, Microcephaly, Abnormality of the oute... |
ORPHA:3186 |
| Ellis Van Creveld Syndrome |
|
Thin vermilion border, Genu valgum, Cubitus valgus, Delayed eruption of teeth, Conical incisor, S... |
ORPHA:289 |
| Micro Syndrome |
|
Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Macrotia, Wide nasal bridge |
ORPHA:2510 |
| Miller-Dieker Lissencephaly Syndrome |
|
Polydactyly, Joint contracture of the hand, Sacral dimple, Deep palmar crease, Clinodactyly of th... |
OMIM:247200 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Macrotia, Short nose, Anteverted nares |
OMIM:234050 |
| Fraser Syndrome 2 |
|
Atresia of the external auditory canal, Underdeveloped nasal alae, Low-set ears, Wide nose |
OMIM:617666 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Moebius Syndrome |
|
High palate, Everted lower lip vermilion, Microdontia, Tooth agenesis, Hearing impairment, Facial... |
ORPHA:570 |
| Silver-Russell Syndrome 3 |
|
Antecubital pterygium, Clinodactyly of the 5th finger, Syndactyly, Small hand |
OMIM:616489 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno... |
ORPHA:2491 |
| Cowden Syndrome 5 |
|
Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hearing impairment, Hypoplas... |
OMIM:615108 |
| Trisomy 18 |
|
Anencephaly, Spina bifida, Short stature, Growth delay, Holoprosencephaly, Intrauterine growth re... |
ORPHA:3380 |
| Joubert Syndrome 22 |
|
Intrauterine growth retardation, Molar tooth sign on MRI |
OMIM:615665 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Tessier cleft, Low-set, posteriorly rotated ears, Hypoplasia of the frontal bone, Hypoplasia of t... |
ORPHA:306542 |
| Gabriele-De Vries Syndrome |
|
Thick lower lip vermilion, High palate, Abnormality of the dentition, Abnormality of upper lip ve... |
ORPHA:506358 |
| Jaberi-Elahi Syndrome |
|
Protruding ear, Short nose, Low-set ears, Depressed nasal bridge |
OMIM:617988 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Clinodactyly of the 5th finger, 11 pairs of ribs, Webbed neck, Finger syndactyly, 2-3 toe syndact... |
OMIM:620025 |
| Witteveen-Kolk Syndrome |
|
Sensorineural hearing impairment, Long philtrum, Thickened helices, Glue ear, Bilateral polymicro... |
OMIM:613406 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Mixed hearing impairment, Cleft hard palate, Delayed eruption of teeth, Dental crowding, Sensorin... |
OMIM:300990 |
| Bardet-Biedl Syndrome 22 |
|
Polydactyly, Postaxial foot polydactyly |
OMIM:617119 |
| Meckel Syndrome, Type 11 |
|
Polydactyly, Occipital encephalocele |
OMIM:615397 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Abnormal shoulder morphology, Narrow chest, Short metacarpal, Abnormal pelvic girdle bone morphol... |
ORPHA:1422 |
| Bardet-Biedl Syndrome |
|
Long philtrum, Aganglionic megacolon, Abnormal oral cavity morphology, Low-set, posteriorly rotat... |
ORPHA:110 |
| Spinocerebellar Ataxia Type 36 |
|
Hearing impairment, Tongue fasciculations, Vertigo, Tongue atrophy |
ORPHA:276198 |
| Aspergillosis |
|
Abnormal long bone morphology, Abnormal rib morphology, Abnormality of the vertebral column |
ORPHA:1163 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus, Spina bifida, Umbilical hernia |
OMIM:613776 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Redundant neck skin, Protein-losing enteropathy, High palate, Low-set ears, Postaxial hand polyda... |
OMIM:235255 |
| Catel-Manzke Syndrome |
|
Glossoptosis, Short metacarpal, Ulnar deviation of the 2nd finger, Bifid uvula, Short humerus, Um... |
OMIM:616145 |
| Spinocerebellar Ataxia 36 |
|
Hearing impairment, Tongue fasciculations, Tongue atrophy |
OMIM:614153 |
| Tetrasomy 5P |
|
Short nose, Anteverted nares, Low-set ears, Posteriorly rotated ears, Wide nasal bridge |
ORPHA:3309 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Rocker bottom foot, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hyperext... |
ORPHA:521426 |
| Orofaciodigital Syndrome Xiv |
|
Supernumerary tooth, Occipital encephalocele, Aplasia of the epiglottis, Periventricular heteroto... |
OMIM:615948 |
| Simpson-Golabi-Behmel Syndrome |
|
Clinodactyly of the 5th finger, Webbed neck, Short 2nd finger, Finger syndactyly, Scoliosis, Vert... |
ORPHA:373 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Cardiomegaly, Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Proximal placement of thumb, Death in infancy, Syndactyly, Brachydactyly, Microretrognathia, Shor... |
OMIM:615789 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:619260 |
| Rubinstein-Taybi Syndrome 1 |
|
Retrognathia, Dislocated radial head, Parietal foramina, Dental crowding, Proptosis, Joint hyperm... |
OMIM:180849 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Broad thumb, Broad hallux, Short 5th finger, Cu... |
OMIM:600987 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, High palate, Persistence of primary teeth, Frontal bossing, Hypertelorism, Joint hype... |
OMIM:147060 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Decreased nerve conduction velocity, Micrognathia, Cleft palate, Glossoptosis |
OMIM:618356 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal lumb... |
ORPHA:249 |
| Peho Syndrome |
|
Macrotia, Abnormal pinna morphology, Anteverted nares, Short nose |
ORPHA:2836 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Flaring of rib cage, Fused cervical vertebrae, Broad ribs |
OMIM:612852 |
| Macrocephaly/Autism Syndrome |
|
Short nose, Recurrent otitis media, Depressed nasal bridge |
OMIM:605309 |
| Pfeiffer Syndrome Type 3 |
|
Short nose, Stenosis of the external auditory canal, Low-set ears, Choanal atresia, Hearing impai... |
ORPHA:93260 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Short nose |
OMIM:615042 |
| Townes-Brocks Syndrome 1 |
|
Sensorineural hearing impairment, Microtia, Choanal atresia, Stahl ear, Macrotia, Microcephaly, L... |
OMIM:107480 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Thick vermilion border, Macrodontia of permanent maxillary central incisor, Open mouth |
OMIM:620114 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Hearing impairment, Short nose, Posteriorly rotated ears, Depressed nasal bridge |
OMIM:619833 |
| Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Thickened superior cerebellar peduncle, Elongated superior cerebellar pe... |
OMIM:609583 |
| Cowden Syndrome 6 |
|
Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hearing impairment, Hypoplas... |
OMIM:615109 |
| Oculodentodigital Dysplasia |
|
Vertebral hyperostosis, Cubitus valgus, Joint contracture of the 5th finger, Broad alveolar ridge... |
OMIM:164200 |
| Cadds |
|
Sensorineural hearing impairment, Short nose |
ORPHA:369942 |
| Weill-Marchesani Syndrome 2 |
|
Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Scoliosi... |
OMIM:608328 |
| Scalp Defects-Postaxial Polydactyly Syndrome |
|
Postaxial polydactyly type A, Encephalocele |
ORPHA:1003 |
| Peters Plus Syndrome |
|
Optic atrophy, Widely spaced teeth, Low-set, posteriorly rotated ears, Webbed neck, Spina bifida ... |
ORPHA:709 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... |
ORPHA:206443 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Amyotrophic lateral sclerosis, Tongue atrophy |
OMIM:613435 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Sensorineural hearing impairment, Short nose, Narrow nasal bridge |
ORPHA:544503 |
| Limb Body Wall Complex |
|
Short umbilical cord, Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Encepha... |
ORPHA:2369 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Short nose |
OMIM:619356 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Redundant neck skin, Radial deviation of finger, Sandal gap, Craniosynostosis, Pectus carinatum, ... |
OMIM:618164 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... |
ORPHA:860 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Anteverted nares, Microtia, Absent knee epiphyses, Low-set ears, Elbow flexion contracture, Promi... |
OMIM:210710 |
| Marfan Syndrome |
|
Kyphoscoliosis, Limited elbow extension, Narrow foot, Pes cavus, Talipes, Spondylolisthesis, Hamm... |
OMIM:154700 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Myhre Syndrome |
|
Abnormal metaphysis morphology, Platyspondyly, Large iliac wing, Abnormal rib morphology, Short p... |
ORPHA:2588 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Long nose, Short nose, Low-set ears, Posteriorly rotated ears, Depressed nasal bridge |
OMIM:618590 |
| Mosaic Trisomy 9 |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:99776 |
| Desmosterolosis |
|
Short nose, Anteverted nares, Low-set ears, Posteriorly rotated ears, Hypoplastic nasal bridge, C... |
OMIM:602398 |
| Autosomal Dominant Robinow Syndrome |
|
Sacral dimple, Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Finger synd... |
ORPHA:3107 |
| Alkuraya-Kucinskas Syndrome |
|
Short nose, Anteverted nares, Low-set ears, Posteriorly rotated ears, Depressed nasal bridge |
OMIM:617822 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Short nose, Sensorineural hearing impairment, Hearing impairment, Macrotia, Prominent nasal bridg... |
OMIM:300749 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Arima Syndrome |
|
Molar tooth sign on MRI, Brainstem dysplasia, Growth delay, Occipital meningocele, Hypoplasia of ... |
OMIM:243910 |
| Jacobsen Syndrome |
|
Webbed neck, Abnormal form of the vertebral bodies, Finger syndactyly, Scoliosis, Missing ribs, S... |
ORPHA:2308 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Death in childhood, Tongue fasciculations, Sensorineural hearing impairment, Facial palsy, Hearin... |
OMIM:211530 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short nose, Sensorineural hearing impairment, Hearing impairment, Broad nasal tip, Posteriorly ro... |
OMIM:239300 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Diaphyseal dysplasia, Increased intervertebral space, Broad ischia, Broad femoral neck, Short pal... |
OMIM:619727 |
| Osteogenesis Imperfecta |
|
Abnormal femur morphology, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, D... |
ORPHA:666 |
| Smith-Magenis Syndrome |
|
Chronic otitis media, Short nose, Anteverted nares, Conductive hearing impairment, Wide nasal bri... |
ORPHA:819 |
| Hydrolethalus Syndrome 1 |
|
Stillbirth, Anencephaly, Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phala... |
OMIM:236680 |
| Gracile Bone Dysplasia |
|
Slender long bone, Flared metaphysis, Thin ribs, Death in infancy, Brachydactyly |
OMIM:602361 |
| Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology, Growth delay |
ORPHA:411493 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Joint hypermobility, Craniosynostosis, Thin upper lip vermilion |
OMIM:300707 |
| Coach Syndrome 2 |
|
Hydrocephalus, Molar tooth sign on MRI |
OMIM:619111 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Orofacial cleft, Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... |
OMIM:615630 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Scoliosis, 2-3 toe syndactyly, Bilateral talipes equinovarus, Equinus calcaneus, Lumbar hyperlord... |
ORPHA:522077 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Butterfly vertebrae, Thickened nuchal skin fold, Neonatal death, Cystic hygroma, Posterior rib fu... |
OMIM:265380 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Anteverted nares, Short nose, Bulbous nose, Depressed nasal bridge |
OMIM:614105 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Hyperplasia of the maxilla, Recurrent otitis media, Abnormal Eustachian tube morphology, Antevert... |
ORPHA:513456 |
| 19P13.13 Microdeletion Syndrome |
|
Short nose, Anteverted nares, Low-set ears, Macrotia, Depressed nasal bridge |
ORPHA:357001 |
| Ulbright-Hodes Syndrome |
|
Hypoplasia of the radius, Fibular aplasia, Thin ribs, Short ribs, Short metacarpal, Abnormal rib ... |
ORPHA:3404 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Bainbridge-Ropers Syndrome |
|
Short nose, Anteverted nares, Low-set ears, Posteriorly rotated ears, Broad nasal tip, Choanal st... |
OMIM:615485 |
| 8Q24.3 Microdeletion Syndrome |
|
Rocker bottom foot, Pectus excavatum, Cervical ribs, Short 5th finger, Long toe, Abnormality of t... |
ORPHA:508488 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Spinal dysraphism, Tethered cord |
OMIM:612918 |
| Chromosome 2Q37 Deletion Syndrome |
|
Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Short phalanx of finger, Short toe |
OMIM:600430 |
| Loeys-Dietz Syndrome 3 |
|
Retrognathia, Proptosis, Bifid uvula, Joint hypermobility, Craniosynostosis, Long face, Osteoporo... |
OMIM:613795 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Abnormal mandible morphology, Hypodontia, Submucous cleft hard... |
ORPHA:3201 |
| 8P23.1 Microdeletion Syndrome |
|
Short nose, Abnormal pinna morphology, Low-set ears, Prominent nasal bridge, Wide nasal bridge |
ORPHA:251071 |
| Orofacial Cleft 13 |
|
Retrognathia, Oligodontia, Micrognathia, Cleft soft palate |
OMIM:613857 |
| Charge Syndrome |
|
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Facial palsy,... |
OMIM:214800 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... |
OMIM:300280 |
| Odontochondrodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:166272 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Short nose, Anteverted nares, Low-set ears, Posteriorly rotated ears, Large fleshy ears, Overfold... |
OMIM:614080 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs |
OMIM:614833 |
| Fetal Akinesia Deformation Sequence 1 |
|
Rocker bottom foot, Short umbilical cord, Stillbirth, Small placenta, Slender long bone, Thin rib... |
OMIM:208150 |
| Lethal Congenital Contracture Syndrome 5 |
|
Thin ribs |
OMIM:615368 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Anteverted nares, Short nose, Low-set ears |
OMIM:219200 |
| 22Q11.2 Deletion Syndrome |
|
Long philtrum, Turricephaly, Short philtrum, Abnormal dental enamel morphology, Long face, Arthri... |
ORPHA:567 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Trans... |
OMIM:306955 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda... |
OMIM:615994 |
| Harel-Yoon Syndrome |
|
Short nose |
OMIM:617183 |
| Acromelic Frontonasal Dysplasia |
|
Patellar hypoplasia, Encephalocele, Meningocele, Aplasia/Hypoplasia of the tibia, Preaxial foot p... |
ORPHA:1827 |
| Cardiofacioneurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Camptodactyly, Kyphosis, Cleft palate, Brachydactyly, Protruding ... |
OMIM:619123 |
| Neu-Laxova Syndrome |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:2671 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Neonatal death, Finger aplasia |
OMIM:276822 |
| Loeys-Dietz Syndrome 2 |
|
Retrognathia, Proptosis, Osteoporosis, Camptodactyly, Micrognathia, Protrusio acetabuli, Bifid uv... |
OMIM:610168 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Short metacarpal, Camptodactyly, Syndactyly, Absent palmar crease, Short neck |
OMIM:614230 |
| Orofacial Cleft 15 |
|
Palate fistula, Bilateral cleft palate, Hypertelorism, Agenesis of lateral incisor, Bilateral cle... |
OMIM:616788 |
| Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormality of the neck, Death in early adulthood, Short clavicles, Delayed cranial suture closur... |
OMIM:608612 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Sensorineural hearing impairment, Ectrodactyly, Tooth agenesis, Cleft upper lip, Cleft palate, Cl... |
OMIM:147950 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Cardiomegaly, Atrial septal defect, Ventricular s... |
OMIM:618652 |
| Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
| Cerebellofaciodental Syndrome |
|
Dental malocclusion, Genu valgum, Macrodontia of permanent maxillary central incisor, Taurodontia |
OMIM:616202 |
| Acrocardiofacial Syndrome |
|
Abnormal metacarpal morphology, Joint dislocation, Finger syndactyly, Split hand, Death in infanc... |
ORPHA:2008 |
| Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Hypertrophic cardiomyopathy |
OMIM:617757 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Long nose, Short nose, Anteverted nares, Underdeveloped nasal alae, Macrotia, Prominent nasal bri... |
OMIM:300912 |
| Joubert Syndrome 3 |
|
Atrial septal defect, Molar tooth sign on MRI, Elongated superior cerebellar peduncle |
OMIM:608629 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Supraumbilical raphe, Bifid sternum |
OMIM:140850 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Advanced eruption of teeth, Anencephaly, Encephalocele, Delayed eruption of teeth, Narrow chest, ... |
OMIM:619148 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Hearing impairment, Short nose |
OMIM:256600 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Retrognathia, Trismus, Sensorineural hearing impairment, High palate, Glossoptosis, Facial palsy,... |
OMIM:254940 |
| 1P21.3 Microdeletion Syndrome |
|
Short nose, Long ear, Broad nasal tip |
ORPHA:293948 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
| Diaphanospondylodysostosis |
|
Depressed nasal ridge, Short nose, Low-set ears, Depressed nasal bridge |
OMIM:608022 |
| Adult Krabbe Disease |
|
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology |
ORPHA:206448 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Sacral dimple, Encephalocele, Finger syndactyly, Delayed cranial suture closure, Broad thumb, Pre... |
ORPHA:2211 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Bilateral single transverse palmar creases, Finger syndactyly, Hyperlordosis, Palmoplantar hyperk... |
ORPHA:3253 |
| Incontinentia Pigmenti |
|
Spina bifida occulta, Delayed eruption of teeth, Finger syndactyly, Scoliosis, Abnormal hand morp... |
ORPHA:464 |
| Renal Agenesis, Bilateral |
|
Sirenomelia, Non-midline cleft of the upper lip, Abnormal intestine morphology, Low-set ears, Tra... |
ORPHA:1848 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Retrognathia, Fused cervical vertebrae, Narrow mouth, Brachyturricephaly, Coronal craniosynostosi... |
ORPHA:83617 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Arachnodactyly, Short palm, Toe syndactyly |
ORPHA:73246 |
| Stromme Syndrome |
|
Stillbirth, Hydrocephalus, Optic nerve hypoplasia, Low-set ears, Intestinal malrotation, Microgna... |
OMIM:243605 |
| Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
| Native American Myopathy |
|
Talipes equinovarus, High palate, Camptodactyly, Conductive hearing impairment, Downturned corner... |
ORPHA:168572 |
| Poikiloderma With Neutropenia |
|
Short nose, Recurrent otitis media, Recurrent sinusitis, Depressed nasal bridge, Underdeveloped n... |
OMIM:604173 |
| Pagod Syndrome |
|
Short stature, Spina bifida, Encephalocele, Meningocele |
ORPHA:991 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Death in infancy, Microgn... |
ORPHA:989 |
| Joubert Syndrome 5 |
|
Occipital encephalocele, Molar tooth sign on MRI, Thickened superior cerebellar peduncle |
OMIM:610188 |
| Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
| Orofaciodigital Syndrome Xvi |
|
Hamartoma of tongue, Low-set ears, Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:617563 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Short stature, Splenomegaly, Cardiomegaly |
OMIM:256550 |
| Klippel-Trenaunay-Weber Syndrome |
|
Macrodactyly, Hand polydactyly, Syndactyly, Finger aplasia |
OMIM:149000 |
| Loeys-Dietz Syndrome 5 |
|
Retrognathia, Cleft soft palate, High palate, Eosinophilic infiltration of the esophagus, Bifid u... |
OMIM:615582 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Limited elbow extension, Genu valgum, Broad long bone diaphyses, Hyperlordosis, Broad metacarpals... |
OMIM:301066 |
| Focal Dermal Hypoplasia |
|
Midclavicular aplasia, Short ribs, Short metacarpal, Myelomeningocele, Split foot, Umbilical hern... |
OMIM:305600 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Narrow palate, Optic atrophy, Dental crowding, Exaggerated median tongue furrow, Hyperplasia of t... |
ORPHA:313892 |
| Acrodysostosis |
|
Short nose, Anteverted nares, Depressed nasal ridge, Hearing impairment, Wide nasal bridge, Depre... |
ORPHA:950 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Low-set ears, Postaxial hand polydactyly |
OMIM:220220 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Narrow palate, Dental crowding, High palate, Narrow mouth, Ankyloglossia, Low-set ears, Hearing i... |
OMIM:616078 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Sensorineural hearing impairment, Short nose, Anteverted nares, Low-set ears |
OMIM:612394 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Optic atrophy, Delayed brainstem auditory evoked response conduction time |
OMIM:616881 |
| Congenital Myopathy 22A, Classic |
|
Spinal rigidity, Scoliosis, Scapular winging, Pectus excavatum, Kyphosis, Congenital finger flexi... |
OMIM:620351 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Postaxial polydactyly, Broad hallux, Open mouth, Hip d... |
ORPHA:457284 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Clinodactyly of the 5th finger, Delayed closure of the anterior fontanelle, Scoliosis, Lower limb... |
ORPHA:96182 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Long philtrum, Abnormal pinna morphology, Postaxial hand polydactyly, Everted lower lip vermilion |
ORPHA:75389 |
| Warburg Micro Syndrome 3 |
|
Macrotia, Short nose |
OMIM:614222 |
| 8Q21.11 Microdeletion Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of finger, Absent palmar crease,... |
ORPHA:284160 |
| Fanconi Anemia, Complementation Group U |
|
Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metacarpal, Absent thumb, Absent ra... |
OMIM:617247 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Mixed hearing impairment, Conical incisor, Microtia, Hearing impairment, Carious teeth, Enamel hy... |
OMIM:149730 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Horizontal ribs, Bell-shaped thorax |
OMIM:614857 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Narrow mouth, Postaxial hand polydactyly |
ORPHA:83473 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Short nose, Anosmia |
ORPHA:1295 |
| Microphthalmia With Brain And Digit Anomalies |
|
Proximal placement of thumb, Finger syndactyly, Sensorineural hearing impairment, High palate, Po... |
ORPHA:139471 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Abnormal form of the vertebral bodies, Sensorineural hearing impairm... |
ORPHA:818 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Furrowed tongue |
ORPHA:2928 |
| Helsmoortel-Van Der Aa Syndrome |
|
Sandal gap, Hyperlordosis, Prominent fingertip pads, Everted lower lip vermilion, Microdontia, Sh... |
OMIM:615873 |
| Cowden Syndrome 1 |
|
Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hearing impairment, Hypoplas... |
OMIM:158350 |
| Rubinstein-Taybi Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Broad thumb, Abnormal distal phalanx morpholog... |
ORPHA:783 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma |
ORPHA:615 |
| Familial Visceral Myopathy |
|
Aganglionic megacolon, Low-set, posteriorly rotated ears, Micrognathia, Cleft palate, Umbilical h... |
ORPHA:2604 |
| Filippi Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Clinodactyly of the 5th ... |
ORPHA:3255 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Abnormal clavicle morphology, Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrod... |
ORPHA:85165 |
| Bardet-Biedl Syndrome 2 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:615981 |
| Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Thin ribs, Short long bone, Femoral bowing, Metaphyseal spurs, Fractured rib, Short... |
OMIM:618188 |
| Nicolaides-Baraitser Syndrome |
|
Broad distal phalanx of finger, Short metatarsal, Sandal gap, Broad 2nd toe, Hallux valgus, Singl... |
OMIM:601358 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Joubert Syndrome 27 |
|
Polydactyly, Thick lower lip vermilion |
OMIM:617120 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Long clavicles, Short 1st metacarpal, Wide distal femoral metaphysis, Single transverse palmar cr... |
OMIM:269150 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Rhizomelia, Narrow chest, Wide anterior fontanel, Tibial bowing, Femoral bowing, Kyphosis, Mesome... |
OMIM:616482 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Rectovaginal fistula, Low-set ears, Anal atresia, Intestinal malrotation, Cleft palate, Optic dis... |
OMIM:270420 |
| Rabson-Mendenhall Syndrome |
|
Advanced eruption of teeth, Dental crowding, Gingival overgrowth, Mandibular prognathia, High pal... |
ORPHA:769 |
| Trisomy 10P |
|
Low voltage EEG, EEG with focal spikes, Low-set ears, Abnormal auditory evoked potentials, Macrot... |
ORPHA:171929 |
| Lipoid Proteinosis |
|
Thick lower lip vermilion, High palate, Abnormality of the gingiva, Abnormal oral mucosa morpholo... |
ORPHA:530 |
| Lathosterolosis |
|
Meningocele, Gingival overgrowth, High palate, Postaxial hand polydactyly, Abnormal thoracic spin... |
ORPHA:46059 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
| White-Kernohan Syndrome |
|
Short nose, Recurrent otitis media, Anteverted nares, Underdeveloped nasal alae, Low-set ears, Ma... |
OMIM:619426 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Retrognathia, Microdontia, Eclabion, Wide mouth, Thickened helices, Short philtrum, Hearing impai... |
OMIM:619950 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Foot polydactyly, Toe syndactyly, Hand polydactyly, Finger syndactyly |
ORPHA:60040 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Intrauterine growth retardation |
OMIM:618838 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis |
OMIM:212140 |
| Adams-Oliver Syndrome |
|
Talipes, Abnormal metacarpal morphology, Encephalocele, Finger syndactyly, Absent toe, Abnormalit... |
ORPHA:974 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
| Holoprosencephaly 14 |
|
Aqueductal stenosis, Alobar holoprosencephaly, Hydrocephalus, Low-set ears, Gray matter heterotop... |
OMIM:619895 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Vestibular areflexia, Absent brainstem auditory responses |
ORPHA:3240 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Orofaciodigital Syndrome Type 14 |
|
Supernumerary tooth, Aplasia of the epiglottis, Low-set, posteriorly rotated ears, Webbed neck, C... |
ORPHA:434179 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Cardiomegaly, Patent ductus arteriosus, Bacterial endocarditis, Pu... |
ORPHA:3092 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal metaphysis morphology, Abnormal metacarpal morphology, Finger syndactyly, Abnormal finge... |
ORPHA:2658 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Short nose, Sensorineural hearing impairment, Low-set ears, Hearing impairment, Convex nasal ridg... |
OMIM:300661 |
| Tick-Borne Encephalitis |
|
Abnormal glossopharyngeal nerve morphology, Myelitis, Abnormal cranial nerve morphology, Vertigo,... |
ORPHA:297 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Calvarial osteosclerosis, Delayed cranial suture closure, Decreased skull ossification, Persisten... |
ORPHA:93325 |
| Hallermann-Streiff Syndrome |
|
Spina bifida, Proportionate short stature |
OMIM:234100 |
| Stolerman Neurodevelopmental Syndrome |
|
Broad palm, Clinodactyly of the 5th finger, Syndactyly, Pectus excavatum |
OMIM:618505 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Short nose, Low-set ears, Depressed nasal bridge |
ORPHA:1812 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Short nose, Anteverted nares, Low-set ears, Hearing impairment, Posteriorly rotated ears, Depress... |
OMIM:618454 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Tibial bowing, Ky... |
OMIM:259770 |
| Tolchin-Le Caignec Syndrome |
|
Sensorineural hearing impairment, Abnormal vestibular function, Narrow mouth, High palate, Low-se... |
OMIM:618971 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Camptodactyly, Death in infancy, Neonatal death, Short neck, Talipes equinovarus |
OMIM:608104 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Tracheomalacia, Long face, Everted lower lip vermilion, Abnormal facial shape,... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Tracheomalacia, Long face, Everted lower lip vermilion, Abnormal facial shape,... |
ORPHA:363958 |
| Prader-Willi Syndrome |
|
Acromicria, Radial deviation of finger, Genu valgum, Scoliosis, Short foot, Kyphosis, Narrow palm... |
OMIM:176270 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
| Carey-Fineman-Ziter Syndrome |
|
Thin vermilion border, Glossoptosis, High palate, Facial palsy, Micrognathia, Cleft palate, Pierr... |
ORPHA:1358 |
| Norrie Disease |
|
Optic atrophy, Narrow nasal bridge, Sensorineural hearing impairment, Abnormal helix morphology, ... |
ORPHA:649 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Orofacial cleft, Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Narrow mouth, A... |
ORPHA:2166 |
| Bardet-Biedl Syndrome 21 |
|
Hypodontia, Postaxial hand polydactyly, Abnormality of the dentition |
OMIM:617406 |
| Proteus Syndrome |
|
Cranial hyperostosis, Abnormality of the wrist, Hyperostosis, Abnormal dental enamel morphology, ... |
ORPHA:744 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence |
OMIM:192445 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Scoliosis, Abnormality of the upper limb, Abnormality of the lower limb, Short... |
ORPHA:1556 |
| Holoprosencephaly 7 |
|
Semilobar holoprosencephaly, Solitary median maxillary central incisor, Alobar holoprosencephaly,... |
OMIM:610828 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Sensorineural hearing impairment, Short nose, Broad nasal tip, Wide nasal bridge |
OMIM:614207 |
| Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle |
OMIM:618161 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Short nose, Anteverted nares, Low-set ears, Broad nasal tip, Prominent nasolabial fold |
ORPHA:357074 |
| Severe Congenital Nemaline Myopathy |
|
Thin ribs, Abnormal thorax morphology |
ORPHA:171430 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
| Peho Syndrome |
|
Short nose |
OMIM:260565 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Redundant neck skin, Protein-losing enteropathy, High palate, Low-set ears, Postaxial hand polyda... |
ORPHA:1655 |
| Prolidase Deficiency |
|
Concave nasal ridge, Short nose, Depressed nasal bridge |
OMIM:170100 |
| Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Short finger, Neonatal death, Death in infancy |
OMIM:242500 |
| Joubert Syndrome 30 |
|
Molar tooth sign on MRI |
OMIM:617622 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly |
ORPHA:2890 |
| Sponastrime Dysplasia |
|
Limited elbow extension, Short nose, Hip subluxation, Genu valgum, Wide nose, Obtuse angle of man... |
ORPHA:93357 |
| Roberts-Sc Phocomelia Syndrome |
|
Brachycephaly, Ankle flexion contracture, Elbow flexion contracture, Proptosis, Wrist flexion con... |
OMIM:268300 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Anteverted nares, Short nose, Concave nasal ridge, Depressed nasal bridge |
OMIM:613038 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Retrognathia, Macrodontia of permanent maxillary central incisor |
ORPHA:466722 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose |
ORPHA:1129 |
| Johanson-Blizzard Syndrome |
|
Abnormal nostril morphology, Sensorineural hearing impairment, Short nose, Underdeveloped nasal alae |
ORPHA:2315 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly |
ORPHA:1942 |
| Yunis-Varon Syndrome |
|
Small earlobe, Microtia, Sensorineural hearing impairment, Low-set ears, Flat acetabular roof, As... |
OMIM:216340 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short nose, Wide nose, Anteverted nares, Low-set ears, Posteriorly rotated ears, Depressed nasal ... |
OMIM:257300 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Thin ribs |
OMIM:300219 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypoplastic helices, Death in childhood, Low-set ears, Cleft upper lip, Macrotia, Cleft palate |
OMIM:600460 |
| Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Postaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:619471 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Kyphoscoliosis, Joint dislocation, Progressive congenital scoliosis, Thin ribs, Congenital hip di... |
OMIM:225400 |
| Monosomy 22 |
|
Clinodactyly of the 5th finger, Finger syndactyly, Single transverse palmar crease, Clubbing, Joi... |
ORPHA:96123 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Abnormality of the palmar creases, Calcaneovalgus deformity, Prominent metopic ridge, Long finger... |
ORPHA:521445 |
| Meckel Syndrome |
|
Optic atrophy, Anencephaly, Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Furr... |
ORPHA:564 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Short nose, Broad columella, Depressed nasal bridge |
OMIM:617865 |
| Timothy Syndrome |
|
Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Cardiomegaly, Ventricular se... |
OMIM:601005 |
| Arthrogryposis, Distal, Type 2A |
|
Short nose, Abnormal auditory evoked potentials, Hearing impairment, Wide nasal bridge, Underdeve... |
OMIM:193700 |
| 19Q13.11 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Congenital hip dislocation, Toe clinodactyly, ... |
ORPHA:217346 |
| Giant Cell Arteritis |
|
Optic atrophy, Glossitis, Vertigo, Hearing impairment, Conductive hearing impairment |
ORPHA:397 |
| Stickler Syndrome |
|
Chronic otitis media, Advanced eruption of teeth, Short hard palate, Abnormal dental enamel morph... |
ORPHA:828 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Umbilical hernia |
OMIM:614520 |
| Infantile Krabbe Disease |
|
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... |
ORPHA:206436 |
| Odontoonychodermal Dysplasia |
|
Conical incisor, Smooth tongue, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t... |
OMIM:257980 |
| Yunis-Varon Syndrome |
|
Rocker bottom foot, Redundant neck skin, Absent sternal ossification, Abnormal finger morphology,... |
ORPHA:3472 |
| Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
| Lathosterolosis |
|
Butterfly vertebrae, 2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Lumbosacral meni... |
OMIM:607330 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Pes cavus, Carpal bone hypoplasia, Abnormal pelvic girdle bone morphology |
OMIM:601162 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Intrauterine growth ret... |
OMIM:617713 |
| Mandibuloacral Dysplasia |
|
Abnormal tongue morphology, Dental crowding, Increased adipose tissue around the neck, High palat... |
ORPHA:2457 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Umbilical hernia |
OMIM:616028 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Absent brainstem auditory responses, Hearing impairment, Macrotia, Abnormality of ... |
ORPHA:90321 |
| Autosomal Dominant Centronuclear Myopathy |
|
Thin ribs |
ORPHA:169189 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Bilateral conductive hearing impairment, Ankyloglossia, Hearing impairment, Downturned corners of... |
ORPHA:488642 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Optic atrophy, Broad alveolar ridges, Abnormal pinna morphology, Sensorineural hearing impairment... |
OMIM:616975 |
| Cardiofaciocutaneous Syndrome 1 |
|
Short nose, Anteverted nares, Low-set ears, Hearing impairment, Posteriorly rotated ears, Large e... |
OMIM:115150 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Equinovarus deformity, Pes cavus, Equinus calcaneus, Decreased patellar reflex |
ORPHA:746 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Short nose, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Overfolded helix |
ORPHA:1974 |
| Luscan-Lumish Syndrome |
|
Advanced ossification of carpal bones, Long foot |
OMIM:616831 |
| Neurofibromatosis, Type I |
|
Short stature, Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
| Trichothiodystrophy 1, Photosensitive |
|
Protruding ear, Macrotia, Short nose |
OMIM:601675 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Optic atrophy, Decreased distal sensory nerve action potential, Difficulty in tongue movements, S... |
ORPHA:99956 |
| Microphthalmia, Syndromic 6 |
|
Brachycephaly, Retrognathia, Plagiocephaly, Lambdoidal craniosynostosis, High palate, Micrognathi... |
OMIM:607932 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Brachycephaly, Tarsal synostosis, Cloverleaf skull, Proptosis, Camptodactyly, Humeroradial synost... |
OMIM:201750 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... |
OMIM:115197 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
2-3 finger syndactyly |
ORPHA:1338 |
| Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Smooth tongue, Narrow mouth, Bilateral sensorineural hearing impairment, A... |
ORPHA:1051 |
| Coronary Arterial Fistula |
|
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... |
ORPHA:2041 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue fasciculations, Tongue atrophy |
OMIM:614678 |
| Choreoacanthocytosis |
|
Decreased amplitude of sensory action potentials, Temporomandibular joint crepitus, Abnormal auto... |
ORPHA:2388 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly |
ORPHA:141333 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Short nose, Low hanging columella, Bulbous nose, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:615803 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Broad finger, Short phalanx of finger, Abnormal hand morphology, Small hand |
OMIM:300845 |
| Kleefstra Syndrome |
|
Chronic otitis media, Short nose, Anteverted nares, Hearing impairment, Thickened helices |
ORPHA:261494 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Short nose |
ORPHA:496790 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly |
ORPHA:66629 |
| Smith-Kingsmore Syndrome |
|
Short nose, Depressed nasal bridge |
OMIM:616638 |
| Chops Syndrome |
|
Hearing impairment, Anteverted nares, Short nose, Thickened helices |
OMIM:616368 |
| Townes-Brocks Syndrome |
|
Abnormal tragus morphology, Abnormal pinna morphology, Microtia, Hearing impairment, Overfolded h... |
ORPHA:857 |
| Fryns Syndrome |
|
Rocker bottom foot, Stillbirth, Broad neck, Proximal placement of thumb, Single transverse palmar... |
OMIM:229850 |
| Mietens Syndrome |
|
Short nose, Wide nasal bridge, Wide nose |
ORPHA:2557 |
| Monosomy 13Q14 |
|
Clinodactyly of the 5th finger, Webbed neck, Aplasia/Hypoplasia of the thumb, Finger syndactyly, ... |
ORPHA:1587 |
| Larsen-Like Syndrome, Lethal Type |
|
Multiple joint dislocation, Neonatal death, Joint dislocation |
OMIM:245650 |
| Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... |
ORPHA:85451 |
| Distal Deletion 15Q |
|
Short philtrum, Low-set ears, Abnormality of the dentition, Hearing impairment, Micrognathia, Cle... |
ORPHA:1596 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Stomach cancer, Furrowed tongue, Hamartomatous polyposis, Colon cancer, Hyp... |
ORPHA:2930 |
| Hereditary Acrokeratotic Poikiloderma |
|
Trismus, Open bite, Gingival bleeding, Abnormality of the dentition, Gingivitis, Narrow mouth, An... |
ORPHA:2907 |
| Microform Holoprosencephaly |
|
Short nose, Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis |
ORPHA:280200 |
| Ulnar-Mammary Syndrome |
|
Aplasia of the pectoralis major muscle, Abnormality of the wrist, Abnormal metacarpal morphology,... |
ORPHA:3138 |
| Fanconi Anemia |
|
Hydrocephalus, Spina bifida, Growth delay, Short stature, Umbilical hernia, Intrauterine growth r... |
ORPHA:84 |
| Arthrogryposis Multiplex Congenita 6 |
|
Adducted thumb, Neonatal death, Death in childhood, Death in infancy |
OMIM:619334 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... |
ORPHA:101085 |
| Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Bilateral cleft palate, Polymicrogyria, High palate, Ankyloglossia, Enamel hypoplasia, Bilateral ... |
OMIM:618874 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Short stature, Spina bifida |
ORPHA:508498 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Mixed hearing impairment, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hi... |
ORPHA:444077 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Short nose, Low-set ears |
ORPHA:457279 |
| Floating-Harbor Syndrome |
|
Long nose, Narrow nasal bridge, Dislocated radial head, Low hanging columella, Low-set ears, Coch... |
ORPHA:2044 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sensorineural hearing impairment, Furrowed tongue, Microdontia, Oral leukoplakia |
OMIM:148210 |
| Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Coffin-Lowry Syndrome |
|
Lumbar kyphosis, Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Singl... |
OMIM:303600 |
| Pseudo-Torch Syndrome 2 |
|
Thin ribs |
OMIM:617397 |
| Hemochromatosis, Type 1 |
|
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly |
OMIM:235200 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Bifid uvula, Cleft palate, Ankyloglossia |
OMIM:303400 |
| Japanese Encephalitis |
|
Abnormal midbrain morphology, Abnormal substantia nigra morphology, Abnormal pons morphology |
ORPHA:79139 |
| Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Ecto... |
ORPHA:2473 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Hepatomegaly |
ORPHA:42 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Kaufman Oculocerebrofacial Syndrome |
|
Short nose, Anteverted nares, Abnormal pinna morphology, Low-set ears, Depressed nasal bridge |
OMIM:244450 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Retrognathia, Cleft soft palate, Hydrocephalus, Bifid uvula, Unilateral cleft lip, Cleft palate |
ORPHA:2736 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Mixed hearing impairment, Cleft soft palate, Conductive hearing impairment, High-frequency sensor... |
OMIM:614557 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Short nose, Low-set ears, Wide nasal bridge, Depressed nasal bridge |
OMIM:613457 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Postnatal growth retardation, Hepatomegaly, Umbilical hernia, Patent ductus arteriosus, Cardiomeg... |
ORPHA:96191 |
| Alg3-Cdg |
|
Neural tube defect |
ORPHA:79321 |
| Cardiofaciocutaneous Syndrome |
|
Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Macrotia, Thickened helices, Dep... |
ORPHA:1340 |
| Chromosome 17Q12 Duplication Syndrome |
|
Micrognathia, Smooth philtrum, Esophageal atresia, Cleft soft palate |
OMIM:614526 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... |
ORPHA:99027 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Anencephaly, Talipes equinovarus, Postaxial hand polydactyly, Cleft uppe... |
OMIM:612284 |
| Fraser Syndrome 3 |
|
Stillbirth, Micrognathia, Cutaneous syndactyly, Short toe |
OMIM:617667 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Polydactyly, Clinodactyly of the 5th finger, Acromesomelia, Scoliosis, Kyphosis, Pyloric stenosis... |
ORPHA:464306 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Narrow palate, Supernumerary tooth, Hypodontia, Dental crowding, Talon cusp, Abnormal facial shap... |
ORPHA:353281 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:391428 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Cleft lip, Notched primary central incisor |
OMIM:620519 |
| Lelis Syndrome |
|
Hypodontia, Carious teeth, Mandibular prognathia, Furrowed tongue |
ORPHA:140936 |
| Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Short... |
ORPHA:363705 |
| Acquired Hypertrichosis Lanuginosa |
|
Glossitis, Macroglossia |
ORPHA:2221 |
| Joubert Syndrome 6 |
|
Molar tooth sign on MRI, Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Elo... |
OMIM:610688 |
| Agel Amyloidosis |
|
Facial palsy, Hearing impairment, Orthostatic hypotension due to autonomic dysfunction, Xerostomi... |
ORPHA:85448 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Epistaxis |
OMIM:277450 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly |
OMIM:219730 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue fasciculations, Tongue atrophy |
OMIM:620285 |
| Seckel Syndrome 2 |
|
Micrognathia, Microdontia, Microglossia |
OMIM:606744 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Macrotia, Short nose, Anteverted nares, Wide nose |
ORPHA:109 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Hydrocephalus, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic va... |
OMIM:231005 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Orofacial cleft, Scoliosis, Low-set ears, Postaxial hand polydactyly |
ORPHA:1454 |
| Malan Syndrome |
|
Short nose |
OMIM:614753 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Pectus carinatum, Increased nuchal translucency, Umbilical hernia, Syndactyly, Brachydactyly, Hip... |
OMIM:620654 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal brainstem morphology |
ORPHA:255182 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Optic atrophy, Difficulty in tongue movements, Tongue fasciculations, Sensorineural hearing impai... |
ORPHA:99949 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Sensorineural hearing impairment, Short nose, Anteverted nares, Depressed nasal bridge |
ORPHA:2719 |
| Okamoto Syndrome |
|
Polydactyly, Redundant neck skin, Anal stenosis, Webbed neck, Scoliosis, Open bite, Exaggerated m... |
ORPHA:2729 |
| Peroxisome Biogenesis Disorder 4B |
|
Sensorineural hearing impairment, Short nose |
OMIM:614863 |
| Plummer-Vinson Syndrome |
|
Cheilitis, Glossitis, Intra-oral hyperpigmentation, Narrow mouth, Esophageal web, Tongue atrophy |
ORPHA:54028 |
| Alstrom Syndrome |
|
Polydactyly, Sensorineural hearing impairment, Scoliosis, Gingivitis, Abnormality of the dentitio... |
OMIM:203800 |
| Septo-Optic Dysplasia Spectrum |
|
Esophageal atresia, Sensorineural hearing impairment, Optic nerve hypoplasia, Tracheoesophageal f... |
ORPHA:3157 |
| Gapo Syndrome |
|
Protruding ear, Anteverted nares, Short nose, Depressed nasal bridge |
OMIM:230740 |
| Kid Syndrome |
|
Delayed pubic bone ossification, Patellar hypoplasia, Arthritis, Equinus calcaneus, Knee flexion ... |
ORPHA:477 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Hip subluxation, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the ha... |
OMIM:150230 |
| Dextrocardia |
|
Abnormal rib morphology |
ORPHA:1666 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Narrow palate, Supernumerary tooth, Hypodontia, Dental crowding, High palate, Talon cusp, Abnorma... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Narrow palate, Supernumerary tooth, Hypodontia, Dental crowding, High palate, Talon cusp, Abnorma... |
ORPHA:353277 |
| Mogs-Cdg |
|
Optic atrophy, Sensorineural hearing impairment, Abnormality of visual evoked potentials, Absent ... |
ORPHA:79330 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... |
ORPHA:439 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
2-3 toe cutaneous syndactyly, Camptodactyly, Micrognathia, 3-4 finger cutaneous syndactyly, Pes p... |
OMIM:620029 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Spina bifida |
OMIM:619480 |
| Aorta Coarctation |
|
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... |
ORPHA:1457 |
| Mucoepithelial Dysplasia, Hereditary |
|
Hearing impairment, Furrowed tongue, Erythematous oral mucosa |
OMIM:158310 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Mucopolysaccharidosis, Type Iiid |
|
Ovoid thoracolumbar vertebrae, Hypoplastic vertebral bodies, Pilonidal sinus, Thoracic scoliosis,... |
OMIM:252940 |
| 1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus, Sensorineural hearing impairment, High palate, Ankyloglossia, Long philtrum |
ORPHA:250989 |
| Developmental And Epileptic Encephalopathy 89 |
|
Death in childhood, Narrow chest, Scoliosis, Neonatal death, Limb undergrowth, Talipes equinovarus |
OMIM:619124 |
| Toriello-Lacassie-Droste Syndrome |
|
Hearing impairment, Abnormality of the ear, Short nose, Anteverted nares |
ORPHA:3339 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Sensorineural hearing impairment, Short nose, Depressed nasal bridge, Underdeveloped nasal alae |
OMIM:616007 |
| Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Recurrent mandibular subluxations, Short phalanx of finger, Short toe, Limb undergrowth, Umbilica... |
OMIM:225410 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Plagiocephaly, Agenesis of incisor, Posterior plagiocephaly, Widely spaced teeth, Short philtrum,... |
OMIM:619841 |
| Hereditary Mucoepithelial Dysplasia |
|
Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula |
ORPHA:1839 |
| Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:300573 |
| Opsismodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:2746 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal brainstem MRI signal intensity, Myocardial necrosis, Abnormal midbrain morphology, Abnor... |
ORPHA:68 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hypoplasia of the nasal bone, Hip contracture, Knee flexion contracture |
OMIM:118650 |
| Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
| Chand Syndrome |
|
Agenesis of maxillary incisor, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Co... |
ORPHA:1401 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Broad alveolar ridges, Dental crowding, Intestinal malrotation, Bifi... |
OMIM:270400 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly, Umbilical hernia |
OMIM:618143 |
| Dubowitz Syndrome |
|
Sacral dimple, Clinodactyly of the 5th finger, Delayed eruption of teeth, Single transverse palma... |
OMIM:223370 |
| Monosomy 13Q34 |
|
Postaxial foot polydactyly, Posteriorly rotated ears, Abnormal earlobe morphology, Postaxial hand... |
ORPHA:96168 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Short nose, Underfolded helix, Prominent antihelix, Overfolded helix, Depressed nasal bridge |
OMIM:268400 |
| Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Agenesis of permanent teeth,... |
OMIM:150400 |
| Alg9-Cdg |
|
Short nose, Low-set, posteriorly rotated ears, Low insertion of columella, Low-set ears, Depresse... |
ORPHA:79328 |
| Cockayne Syndrome B |
|
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... |
OMIM:133540 |
| Cockayne Syndrome A |
|
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... |
OMIM:216400 |
| Melkersson-Rosenthal Syndrome |
|
Cheilitis, Facial palsy, Furrowed tongue, Abnormal autonomic nervous system physiology, Macroglossia |
ORPHA:2483 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Short nose |
ORPHA:329178 |
| Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct |
ORPHA:18 |
| Jacobsen Syndrome |
|
Anteverted nares, Short nose, Low-set ears, Depressed nasal bridge |
OMIM:147791 |
| Legius Syndrome |
|
Polydactyly, Clinodactyly of the 5th finger, Scoliosis, Hearing impairment, Vestibular schwannoma |
ORPHA:137605 |
| Specc1L-Related Hypertelorism Syndrome |
|
Short nose, Abnormal helix morphology, Low-set ears, Prominent nasal bridge, Wide nasal bridge |
ORPHA:1519 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Long nose, Short nose, Narrow nose |
OMIM:617602 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Stomatitis, Glossitis, Hydrocephalus, Low-set ears, Smooth philtrum |
ORPHA:79282 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Neonatal death, Spina bifida |
OMIM:614437 |
| Coffin-Siris Syndrome |
|
Short nose, Wide nasal base, Anteverted nares, Thick nasal alae, Hearing impairment, Broad nasal ... |
ORPHA:1465 |
| Sotos Syndrome |
|
Ankle flexion contracture, Craniosynostosis, Hypodontia, Long face, Bilateral camptodactyly, Abno... |
ORPHA:821 |
| Rothmund-Thomson Syndrome Type 2 |
|
Finger symphalangism, Abnormal ulnar metaphysis morphology, Aplasia/hypoplasia involving bones of... |
ORPHA:221016 |
| Restrictive Dermopathy 1 |
|
Rocker bottom foot, Short umbilical cord, Kyphoscoliosis, Stillbirth, Thin clavicles, Short clavi... |
OMIM:275210 |
| Semilobar Holoprosencephaly |
|
Neural tube defect, Abnormal brainstem morphology, Hydrocephalus, Short stature, Growth delay, Ab... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Neural tube defect, Abnormal brainstem morphology, Hydrocephalus, Short stature, Growth delay, Ab... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Abnormal brainstem morphology, Hydrocephalus, Short stature, Growth delay, Ab... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Neural tube defect, Abnormal brainstem morphology, Hydrocephalus, Short stature, Growth delay, Ab... |
ORPHA:93924 |
| Geleophysic Dysplasia 1 |
|
Anteverted nares, Short nose, Thickened helices, Wide nasal bridge |
OMIM:231050 |
| Leukocyte Adhesion Deficiency |
|
Severe periodontitis, Recurrent aphthous stomatitis, Abnormality of the dentition, Gingivitis, Si... |
ORPHA:2968 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic ne... |
ORPHA:909 |
| Familial Aortic Dissection |
|
Cardiomegaly, Patent ductus arteriosus |
ORPHA:229 |
| Neuroocular Syndrome |
|
Retrognathia, Widely spaced teeth, Short uvula, Increased overbite, Unilateral deafness, Anterior... |
OMIM:619539 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Polydactyly, Supernumerary tooth, Short 5th toe, Sacral dimple, Widely spaced teeth, 2-4 toe cuta... |
ORPHA:268261 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... |
OMIM:620642 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Microlissencephaly-Micromelia Syndrome |
|
Short nose |
ORPHA:50810 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Short nose, Low insertion of columella, Anteverted nares, Underdeveloped nasal alae, Depressed na... |
OMIM:619005 |
| Wiedemann-Steiner Syndrome |
|
Short nose, Low-set ears, Wide nasal bridge |
ORPHA:319182 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Butterfly vertebral arch, Hemivertebrae, Abnormal rib morphology, Short d... |
OMIM:118450 |
| Congenital Disorder Of Glycosylation, Type It |
|
Delayed puberty, Hepatomegaly, Short stature, Growth delay, Cardiomegaly, Dilated cardiomyopathy,... |
OMIM:614921 |
| Nestor-Guillermo Progeria Syndrome |
|
Rib osteolysis, Thin ribs, Scoliosis, Progressive clavicular acroosteolysis |
OMIM:614008 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Abnormality of the dentition, Camptodactyly, Osteoporosis, Cleft palate, Hyperteloris... |
ORPHA:432 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal metaphysis morphology, Genu valgum, Platyspondyly, Delayed eruption of teeth, Arthritis,... |
ORPHA:534 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Faciocardiomelic Syndrome |
|
Polydactyly, Slender long bone, Hypoplastic pelvis, Wide mouth, Long philtrum, Dental malocclusio... |
OMIM:612731 |
| Ring Chromosome 7 Syndrome |
|
Short nose, Small earlobe, Anteverted nares, Prominent nasal bridge, Narrow naris, Wide nasal bri... |
ORPHA:1449 |
| Microphthalmia, Syndromic 1 |
|
Kyphoscoliosis, Radial deviation of finger, Webbed neck, Narrow chest, Short clavicles, Scoliosis... |
OMIM:309800 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... |
ORPHA:57777 |
| Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Intrauterine growth retardation |
ORPHA:158687 |
| Hypomelia With Mullerian Duct Anomalies |
|
Split hand, Postaxial hand polydactyly |
OMIM:146160 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Ulnar-Mammary Syndrome |
|
Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd metacarpal, Short... |
OMIM:181450 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Abnormal brainstem morphology, Hypertrophic cardiomyopathy |
ORPHA:79279 |
| Ogden Syndrome |
|
Short nose, Recurrent otitis media, Flared nostrils, Bifid nasal tip, Low-set ears, Depressed nas... |
OMIM:300855 |
| Adult Syndrome |
|
Split foot, Toe syndactyly, Finger syndactyly |
ORPHA:978 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Polydactyly, Esophageal varix, Low-set ears, Everted lower lip vermilion, Hearing impairment, Bro... |
OMIM:619534 |
| Rothmund-Thomson Syndrome Type 1 |
|
Finger symphalangism, Abnormal ulnar metaphysis morphology, Patellar hypoplasia, Metaphyseal stri... |
ORPHA:221008 |
| Myopathy, Myofibrillar, 7 |
|
Facial palsy, Tongue atrophy |
OMIM:617114 |
| Pallister-Killian Syndrome |
|
Kyphoscoliosis, Everted lower lip vermilion, Intestinal malrotation, Bifid uvula, Wide mouth, Umb... |
OMIM:601803 |
| Genitopatellar Syndrome |
|
Knee flexion contracture, Delayed eruption of teeth, Scoliosis, Inferior pubic ramus hypoplasia, ... |
OMIM:606170 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short nose, Wide nasal bridge |
OMIM:618005 |
| Hypoglossia-Hypodactylia |
|
Retrognathia, Narrow mouth, Micrognathia, Microglossia, Aglossia |
OMIM:103300 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in childhood, Scoliosis, Death in adolescence, Death in infancy, Neonatal death |
OMIM:619055 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
| Deeah Syndrome |
|
Hearing impairment, Short nose, Prominent nasal tip, Low-set ears |
OMIM:619004 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Short nose, Low-set ears, Aplasia of the nasal bone, Abnormality of the outer ear, Protruding ear |
OMIM:618820 |
| Kindler Epidermolysis Bullosa |
|
Short 4th metacarpal, Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Palmop... |
ORPHA:2908 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly |
ORPHA:465508 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Abnormal brainstem morphology, Elongated superior cerebellar peduncle |
ORPHA:370022 |
| Complete Atrioventricular Septal Defect |
|
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... |
ORPHA:1329 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Bifid uvula, Short philtrum, Tooth malposition, Camptodactyly, Abnormal dental m... |
ORPHA:261537 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Molar tooth sign on MRI, Ventricular septal defect, Hypoplasia of the brainstem |
OMIM:619306 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
| Bloom Syndrome |
|
Dolichocephaly, Agenesis of maxillary lateral incisor, Malar flattening, Narrow face |
OMIM:210900 |
| Hartnup Disease |
|
Glossitis, Gingivitis |
ORPHA:2116 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Hydrocephalus, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion... |
OMIM:261740 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Short nose, Anteverted nares, Choanal atresia, Posteriorly rotated ears, Overfolded helix, Narrow... |
OMIM:301044 |
| Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:467166 |
| Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Xerostomia, Tongue atrophy |
ORPHA:803 |
| Viss Syndrome |
|
Retrognathia, Intestinal malrotation, Malposition of the stomach, Bifid uvula, Umbilical hernia, ... |
OMIM:619472 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Glossitis, Protein-losing enteropathy, Xerostomia, Hamartomatous polyposis |
OMIM:175500 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Hydrocephalus, Patent foramen ovale, Short stature, Cardiomegaly |
OMIM:620371 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Pulmonic stenosis, Short stature, Hepatosplenomegaly, Splenomegaly, Mitral valve pr... |
OMIM:602782 |
| Coffin-Siris Syndrome 12 |
|
Hip subluxation, Ridged cranial sutures, Scoliosis, Delayed cranial suture closure, Pectus excava... |
OMIM:619325 |
| Spinocerebellar Ataxia Type 1 |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:98755 |
| Prader-Willi Syndrome Due To Translocation |
|
Short nose, Underdeveloped nasolabial fold, Narrow nasal bridge, Anteverted nares, Broad nasal ti... |
ORPHA:177907 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Decreased distal sensory nerve action potential, Hearing impairment, Abnormality of peripheral so... |
ORPHA:466768 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Enlarged kidney |
OMIM:608836 |
| Danon Disease |
|
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... |
OMIM:300257 |
| Hardikar Syndrome |
|
Gastric varix, Mild hearing impairment, Cleft soft palate, Bilateral cleft palate, Vertigo, Esoph... |
OMIM:301068 |
| Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
| Sandhoff Disease |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Cleft palate, Glossitis |
ORPHA:79284 |
| Hallermann-Streiff Syndrome |
|
Supernumerary tooth, High, narrow palate, Glossoptosis, Abnormality of the dentition, Narrow mout... |
ORPHA:2108 |
| Psoriasis 14, Pustular |
|
Geographic tongue, Furrowed tongue |
OMIM:614204 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Short uvula, Short philtrum, Torticollis, Hydrocephalus, High palate, Bilate... |
OMIM:619475 |
| Neurocardiofaciodigital Syndrome |
|
Polydactyly, Thin vermilion border, High palate, Hearing impairment, Syndactyly |
OMIM:619869 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Abnormal jaw morphology, Bifid uvula, Short philtrum, Tooth malposition, Camptod... |
ORPHA:261552 |
| Hutchinson-Gilford Progeria Syndrome |
|
Thin vermilion border, Retrognathia, Delayed eruption of teeth, Dental crowding, Short lingual fr... |
ORPHA:740 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly |
ORPHA:228308 |
| Mckusick-Kaufman Syndrome |
|
Postaxial hand polydactyly, Congenital hip dislocation, Syndactyly, Mesoaxial hand polydactyly, P... |
OMIM:236700 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Short nose, Low-set ears, Hearing impairment, Posteriorly rotated ears, Protruding ear, Short col... |
OMIM:601776 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:615989 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... |
OMIM:601214 |
| Acrodermatitis Enteropathica |
|
Glossitis, Cheilitis, Furrowed tongue, Abnormality of the tongue |
ORPHA:37 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Convex nasal ridge, Short nose |
ORPHA:90154 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Chronic otitis media, Recurrent otitis media, Cleft soft palate, Delayed eruption of teeth, Denta... |
OMIM:619503 |
| Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... |
ORPHA:3427 |
| Eec Syndrome |
|
Proximal placement of thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Split hand, Ectr... |
ORPHA:1896 |
| Cowden Syndrome |
|
Colorectal polyposis, High palate, Furrowed tongue, Hamartomatous polyposis, Hearing impairment, ... |
ORPHA:201 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Supernumerary tooth, Recurrent otitis media, Low-set ears, Ankyloglossia, Micrognathia |
OMIM:619525 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Kallmann Syndrome |
|
Sensorineural hearing impairment, Cleft palate, Tooth agenesis |
ORPHA:478 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy, Short stature |
OMIM:208000 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short nose |
ORPHA:476126 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
| Truncus Arteriosus |
|
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... |
ORPHA:3384 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Polydactyly, Orofacial cleft, Sensorineural hearing impairment, Short humerus, Short femur |
ORPHA:17 |
| Frontofacionasal Dysplasia |
|
Short nose, Midline defect of the nose, Bifid nose, Underdeveloped nasal alae |
OMIM:229400 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Growth delay, Abnormal heart morphology, Tetralogy of F... |
ORPHA:980 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures |
OMIM:612301 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... |
OMIM:620066 |
| Fucosidosis |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Short stature |
OMIM:230000 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
ORPHA:308552 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Tessier cleft, Absent or minimally ossified vertebral bodies, Abnormal metaphysis morphology, Eso... |
ORPHA:93271 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Short nose, Prominent nasal tip, Broad nasal tip, Posteriorly rotated ears, Protruding ear, Wide ... |
OMIM:620330 |
| Hereditary Folate Malabsorption |
|
Glossitis, Cheilitis |
ORPHA:90045 |
| Penile Agenesis |
|
Short nose, Posteriorly rotated ears, Depressed nasal bridge |
ORPHA:49 |
| Joubert Syndrome 38 |
|
Short stature, Molar tooth sign on MRI |
OMIM:619476 |
| Congenital Tracheomalacia |
|
Partial anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Patent... |
ORPHA:95430 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Short nose, Rhinitis, Depressed nasal bridge, Underdeveloped nasal alae |
OMIM:305100 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Short nose |
OMIM:252160 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Delayed puberty, Short stature, Abnormal midbrain morphology |
ORPHA:293987 |
| Mowat-Wilson Syndrome |
|
Genu valgum, Delayed eruption of teeth, Hallux valgus, Scoliosis, Pectus carinatum, Calcaneovalgu... |
ORPHA:2152 |
| Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:603903 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose |
OMIM:252150 |
| Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Anal fissure, Narrow mouth, Abnormal esophagus morphology, Ankyloglossia, Carious teeth, Esophage... |
ORPHA:89842 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Delayed puberty, Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction ... |
OMIM:300967 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Intrauterine growth retardation, Short stature, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Narrow nasal ridge, Short nose, Tinnitus, Low-set ears |
OMIM:606721 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Disproportionate short-limb short stature |
OMIM:619479 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short nose, Anteverted nares, Broad nasal tip, Narrow naris, Wide nasal bridge, Depressed nasal b... |
OMIM:617157 |
| Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis |
ORPHA:35858 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal brainstem morphology, Hydrocephalus, Short stature |
ORPHA:2720 |
| 47,Xyy Syndrome |
|
Abnormal brainstem morphology, Hydrocephalus |
ORPHA:8 |
| Geleophysic Dysplasia 2 |
|
Short nose |
OMIM:614185 |
| Generalized Pustular Psoriasis |
|
Geographic tongue, Cheilitis |
ORPHA:247353 |
| Glycogen Storage Disease Ii |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:232300 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Abnormal brainstem morphology, Intrauterine growth retardation, Short stature |
OMIM:301310 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity |
ORPHA:88619 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Cheilitis, Anoperineal fistula, Abnormal tongue morphology, Abnormality of the dentition, Abnorma... |
ORPHA:158668 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short nose |
ORPHA:505248 |
| Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Ventricular septal defect, Hydrocephalus, Hepatomegaly |
ORPHA:137675 |
| Liver Disease, Severe Congenital |
|
Left atrial enlargement, Hepatomegaly, Patent foramen ovale, Intrauterine growth retardation, Umb... |
OMIM:619991 |
| Interatrial Communication |
|
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... |
ORPHA:1478 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus |
ORPHA:91387 |
| Wilson Disease |
|
Face of the giant panda sign |
OMIM:277900 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Abnormal digit morphology, Median cleft palate, Osteoporosis of vertebrae, Decreased... |
ORPHA:95494 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormal brainstem morphology, Birth length less than 3rd percentile, Aortic valve stenosis, Pate... |
ORPHA:464311 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Butterfly vertebrae, Aganglionic megacolon, Scoliosis, Postaxial hand polydactyly, Ectrodactyly, ... |
OMIM:308205 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Intrauterine growth retardation |
OMIM:620376 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Thin ribs, Supernumerary ribs, Pectus excavatum |
OMIM:619127 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... |
ORPHA:1677 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly |
OMIM:618278 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic atrophy, Cleft soft palate, Hydrocephalus, Optic nerve hypoplasia, Intestinal malrotation, ... |
OMIM:619321 |
| Coccidioidomycosis |
|
Broad ribs, Abnormality of the vertebral column |
ORPHA:228123 |
| Abetalipoproteinemia |
|
Cardiomegaly, Hepatomegaly |
ORPHA:14 |
| Restrictive Dermopathy |
|
Thin clavicles, Thin ribs, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Increase... |
ORPHA:1662 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Cardiomegaly, Spina bifida occulta, Hypertrophic cardiomyopathy,... |
ORPHA:904 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
ORPHA:365 |
| Plague |
|
Glossitis, Hearing impairment, Inflammation of the large intestine, Enterocolitis, Ileitis, Chapp... |
ORPHA:707 |
| Pachyonychia Congenita 3 |
|
Furrowed tongue, Gingivitis, Chapped lip, Oral leukoplakia |
OMIM:615726 |
| Multiple Endocrine Neoplasia Type 2 |
|
Ganglioneuromatosis, Aganglionic megacolon, Thick vermilion border, Abnormal tongue morphology |
ORPHA:653 |
| Aicardi-Goutières Syndrome |
|
Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Short stature |
ORPHA:51 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal brainstem morphology, Abnormal pons morphology |
ORPHA:370997 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Prominent floating ribs, Pectus excavatum |
ORPHA:2785 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... |
ORPHA:99125 |
| Williams-Beuren Syndrome |
|
Short nose, Recurrent otitis media, Sensorineural hearing impairment, Anteverted nares, Broad nas... |
OMIM:194050 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Short stature, Growth delay, Splenomegaly, Cardiomegaly |
OMIM:256040 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly |
OMIM:130650 |
| Gangliocytoma |
|
Abnormal brainstem morphology |
ORPHA:251937 |
| Stüve-Wiedemann Syndrome |
|
Smooth tongue, Abnormality of the dentition, Abnormal autonomic nervous system physiology, Trismus |
ORPHA:3206 |
| Meckel Syndrome, Type 7 |
|
Postaxial foot polydactyly |
OMIM:267010 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... |
ORPHA:75565 |
| Kawasaki Disease |
|
Glossitis, Cheilitis, Strawberry tongue, Lip fissure |
ORPHA:2331 |
| Glucagonoma |
|
Stomatitis, Intestinal obstruction, Steatorrhea, Glossitis |
ORPHA:97280 |
| Encephalocraniocutaneous Lipomatosis |
|
Osteochondrosis, Abnormal cartilage morphology |
ORPHA:2396 |
| Wiedemann-Rautenstrauch Syndrome |
|
Thin ribs, Short neck, Scoliosis, Narrow chest |
OMIM:264090 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Anal fissure, Narrow mouth, Ankyloglossia, Carious teeth, Esophageal ulceration, Erosion of oral ... |
ORPHA:79408 |
| Microsporidiosis |
|
Glossitis |
ORPHA:2552 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal brainstem morphology |
ORPHA:93256 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Aortic valve stenosis, Short stature, Aortic valve calcification, Car... |
OMIM:182250 |
| Carney Complex |
|
Esophageal neoplasm, Neoplasm of the stomach, Abnormal hard palate morphology, Neoplasm of the re... |
ORPHA:1359 |
| Encephalocraniocutaneous Lipomatosis |
|
Dandy-Walker malformation, Cerebellar hypoplasia |
OMIM:613001 |
