| Atelosteogenesis, Type I |
|
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Fibular aplasia, S... |
OMIM:108720 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Sensorineural hearing impairment, Broad thumb, Aplasia/hypoplasia of the humerus, Cervical ribs, ... |
ORPHA:3320 |
| Fibular Hemimelia |
|
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... |
ORPHA:93323 |
| Cleidocranial Dysplasia |
|
Chronic otitis media, Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis m... |
ORPHA:1452 |
| Otopalatodigital Syndrome Type 2 |
|
Abnormal pinna morphology, Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Anodonti... |
ORPHA:90652 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Abnormal pinna morphology, Short ribs, Short long bone, Dumbbell-sh... |
OMIM:228520 |
| Acro-Renal-Mandibular Syndrome |
|
Pectus carinatum, Tracheoesophageal fistula, Split foot, Intrauterine growth retardation, Hip dis... |
ORPHA:958 |
| Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull... |
OMIM:200600 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
| Ulnar Hemimelia |
|
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... |
ORPHA:93320 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Short philtrum, Single transverse palm... |
OMIM:201170 |
| Femoral-Facial Syndrome |
|
Abnormal fibula morphology, Orofacial cleft, Short nose, Microtia, Low-set ears, Abnormal pelvic ... |
ORPHA:1988 |
| Microcephaly-Micromelia Syndrome |
|
Narrow chest, Oligodactyly, Narrow mouth, Low-set ears, Forearm undergrowth, Micromelia, Humerora... |
OMIM:251230 |
| Schneckenbecken Dysplasia |
|
Lateral clavicle hook, Stillbirth, Short nose, Narrow chest, Snail-like ilia, Short ribs, Short l... |
OMIM:269250 |
| Orofaciodigital Syndrome Type 10 |
|
Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso... |
ORPHA:2756 |
| Platyspondylic Dysplasia, Torrance Type |
|
Abnormal carpal morphology, Narrow chest, Metaphyseal cupping, Short thorax, Low-set ears, Bowing... |
ORPHA:85166 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short ribs, Decreased skull ossification, Multiple prenatal fractures, Unilateral cleft lip, Thor... |
OMIM:616897 |
| 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 |
| Dyggve-Melchior-Clausen Disease |
|
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... |
OMIM:223800 |
| Multiple Synostoses Syndrome 1 |
|
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... |
OMIM:186500 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Aplasia/Hypoplasia of fingers, Respiratory distress, Temporomandibular joint ankylosis, Dyspnea, ... |
ORPHA:141152 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Dislocated r... |
OMIM:602471 |
| Atelosteogenesis Type Ii |
|
Sandal gap, Tracheobronchomalacia, Bilateral cleft palate, Short ribs, Short metacarpal, Short lo... |
ORPHA:56304 |
| Cousin Syndrome |
|
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Mi... |
OMIM:260660 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... |
ORPHA:2141 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... |
OMIM:607778 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Retrognathia, Talipes, Radi... |
OMIM:227270 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... |
ORPHA:85188 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormality of the philtrum,... |
ORPHA:3268 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... |
ORPHA:166016 |
| Osteopathia Striata With Cranial Sclerosis |
|
Flexion contracture of toe, Dental crowding, Microtia, Pectus excavatum, Intestinal malrotation, ... |
OMIM:300373 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... |
ORPHA:85170 |
| Van Den Ende-Gupta Syndrome |
|
Narrow foot, Dislocated radial head, Dental crowding, Small earlobe, Femoral bowing, Short ribs, ... |
OMIM:600920 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Narrow chest, Sensorineural hearing impairment, Femoral bowing, Glossoptosis, Microme... |
ORPHA:440354 |
| Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... |
ORPHA:1972 |
| Orofaciodigital Syndrome Vi |
|
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... |
OMIM:277170 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Pes cavus, Metaphyseal cupping, Narrow iliac wing, Coxa vara, Irregular... |
OMIM:616716 |
| Cenani-Lenz Syndrome |
|
Oligodactyly, Hip dislocation, Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacar... |
ORPHA:3258 |
| Eiken Syndrome |
|
Abnormal bone ossification, High iliac wing, Absence of the sacrum, Metaphyseal irregularity, Fib... |
ORPHA:79106 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short ribs, Short long bone, Flat acetabular roof, Microdontia, Mesomelia, Syndactyly, Short dist... |
OMIM:614091 |
| Cleidocranial Dysplasia 1 |
|
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... |
OMIM:119600 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Delayed pubic bone ossific... |
ORPHA:1856 |
| Kyphomelic Dysplasia |
|
Tibial bowing, Femoral bowing, Short metacarpal, Flat acetabular roof, Short humerus, Thoracic hy... |
OMIM:211350 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... |
OMIM:249700 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,... |
OMIM:602196 |
| Thanatophoric Dysplasia, Type I |
|
Narrow chest, Flared metaphysis, Short greater sciatic notch, Wide-cupped costochondral junctions... |
OMIM:187600 |
| Leri-Weill Dyschondrosteosis |
|
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... |
OMIM:127300 |
| Omodysplasia 2 |
|
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Recurrent ot... |
OMIM:164745 |
| Achondroplasia |
|
Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Death in infancy, Thoraci... |
OMIM:100800 |
| Osteogenesis Imperfecta, Type X |
|
Tibial bowing, Dentinogenesis imperfecta, Thoracic hypoplasia, Joint hypermobility, Broad ribs, F... |
OMIM:613848 |
| Acrodysostosis |
|
Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Coxa valga, Genu varum, Hypop... |
ORPHA:950 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Thin vermilion border, Fibular hypoplasia, Narrow mouth, Supernumerary ri... |
OMIM:612447 |
| Ulbright-Hodes Syndrome |
|
Abnormal pinna morphology, Short ribs, Severe intrauterine growth retardation, Short metacarpal, ... |
ORPHA:3404 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Abs... |
OMIM:274000 |
| Short-Rib Thoracic Dysplasia 12 |
|
Abnormal pinna morphology, Short ribs, Short long bone, Intestinal malrotation, Intrauterine grow... |
OMIM:269860 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Retrognathia, Hypoplastic iliac wing, Microtia, Tibial bowing, Microdontia, Short distal phalanx ... |
OMIM:210720 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... |
OMIM:609945 |
| Léri-Weill Dyschondrosteosis |
|
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... |
ORPHA:240 |
| Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Flared metaphysis, Short greater sciatic notch, Wide-cupped costochondral junctions... |
OMIM:187601 |
| 3M Syndrome |
|
Rocker bottom foot, Enlarged thorax, Everted lower lip vermilion, Hypoplastic ischia, Hypoplastic... |
ORPHA:2616 |
| Boomerang Dysplasia |
|
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... |
ORPHA:1263 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... |
OMIM:118651 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Abnormality of the hand, Anterior ... |
OMIM:605274 |
| Phocomelia, Schinzel Type |
|
Aplasia/Hypoplasia involving the pelvis, Tracheoesophageal fistula, Intrauterine growth retardati... |
ORPHA:2879 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... |
ORPHA:93405 |
| Campomelic Dysplasia |
|
Absent sternal ossification, Dislocated radial head, Tracheobronchomalacia, Hypoplastic iliac win... |
OMIM:114290 |
| Bowen-Conradi Syndrome |
|
Rocker bottom foot, Abnormal lung lobation, Orofacial cleft, Clinodactyly of the 5th finger, Seve... |
ORPHA:1270 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Low-set, posteriorly... |
ORPHA:1307 |
| Acrorenal-Mandibular Syndrome |
|
Split foot, Intrauterine growth retardation, Hip dislocation, Hypoplasia of the ulna, Hypoplasia ... |
OMIM:200980 |
| Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Cone-shaped epiphysis, Clinodactyly of the 5th finger, Distal symphalangi... |
ORPHA:93388 |
| Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Femoral bowing, Clubbing, Tibial bowing, Short long bone, Death in in... |
OMIM:601559 |
| Femur-Fibula-Ulna Complex |
|
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... |
ORPHA:2019 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... |
OMIM:201250 |
| Diastrophic Dysplasia |
|
Proximal placement of thumb, Joint stiffness, Symphalangism affecting the phalanges of the hand, ... |
ORPHA:628 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... |
OMIM:619598 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow greater sciatic notch, Short ribs, Short long bone, Flat acetabular roof, Hypoplastic pelv... |
OMIM:616300 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... |
OMIM:609441 |
| Pelviscapular Dysplasia |
|
Stenosis of the external auditory canal, Abnormal pinna morphology, Elbow flexion contracture, Lo... |
ORPHA:93333 |
| Spondyloperipheral Dysplasia |
|
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Sensorineural hear... |
OMIM:271700 |
| 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 |
| Osebold-Remondini Syndrome |
|
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... |
OMIM:112910 |
| Ophthalmomandibulomelic Dysplasia |
|
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Temporomandibu... |
OMIM:164900 |
| Van Bogaert-Hozay Syndrome |
|
Osteolytic defects of the phalanges of the hand, Tooth malposition, Abnormal pinna morphology, Di... |
OMIM:277150 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Thoracic hypoplasia, Absent radius, Patellar dislocation, Hip di... |
ORPHA:56305 |
| Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... |
OMIM:184260 |
| Atelosteogenesis Type I |
|
Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Joint disl... |
ORPHA:1190 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal palate morphology, Hearing abnormality, Narrow mouth, Congenital hip dislocation, Deviat... |
ORPHA:2412 |
| Orofaciodigital Syndrome X |
|
Fibular aplasia, Retrognathia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescen... |
OMIM:165590 |
| Orofaciodigital Syndrome Viii |
|
Polydactyly, High palate, Cleft palate, Recurrent aspiration pneumonia, Syndactyly, Short tibia, ... |
OMIM:300484 |
| Otoonychoperoneal Syndrome |
|
Ankle flexion contracture, Straight clavicles, Low-set ears, Macrotia, Hip contracture, Posterior... |
OMIM:259780 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormal lung morphology, Upper limb phoco... |
ORPHA:294975 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short nose, Genu valgum, Rhizomelia, Mandibular prognathia, Deformed humeral heads, Short metacar... |
ORPHA:2831 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... |
OMIM:228900 |
| Melnick-Needles Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavatum, Short humeru... |
OMIM:309350 |
| Eiken Syndrome |
|
Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M... |
OMIM:600002 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Abnormal foot morpholo... |
ORPHA:75508 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoplasia of the radius, Rhizomelia, Sandal gap, Short philtrum, Respiratory distress, Sensorine... |
OMIM:607143 |
| Osteoglophonic Dysplasia |
|
Eruption failure, Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Long philtru... |
OMIM:166250 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Dislocated radial hea... |
OMIM:618395 |
| Craniodiaphyseal Dysplasia |
|
Diaphyseal undertubulation, Craniofacial hyperostosis, Stenosis of the external auditory canal, A... |
ORPHA:1513 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Femoral bowing, Short ribs, Short long bone, Absent tibia, Intestinal malrotation, Thoracic hypop... |
OMIM:613091 |
| Campomelic Dysplasia |
|
Fibular hypoplasia, 11 pairs of ribs, Poorly ossified cervical vertebrae, Tracheomalacia, Narrow ... |
ORPHA:140 |
| Seckel Syndrome 1 |
|
Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr... |
OMIM:210600 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Low-set, posteriorly rotated ears, Finger synda... |
ORPHA:246 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, 4-5 toe syndactyly, Hearing impairment, M... |
OMIM:308050 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... |
ORPHA:2256 |
| Autosomal Dominant Omodysplasia |
|
Short nose, Rhizomelia, Short palm, Micrognathia, Short humerus, Malar flattening, Long philtrum,... |
ORPHA:93328 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Microtia, Low-set ears, Everted lower lip vermilion, Micrognathia, Downtu... |
OMIM:615162 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Microtia, Low-set ears, Everted lower lip vermilion, Micrognathia, Malar ... |
ORPHA:357175 |
| Microphthalmia With Limb Anomalies |
|
Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo... |
OMIM:206920 |
| Smith-Mccort Dysplasia 1 |
|
Genu valgum, Irregular epiphyses, Barrel-shaped chest, Hypoplastic acetabulae, Limitation of join... |
OMIM:607326 |
| Endosteal Hyperostosis, Worth Type |
|
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... |
ORPHA:2790 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla... |
ORPHA:2878 |
| Fibrochondrogenesis |
|
Abnormal metaphysis morphology, Hearing abnormality, Abnormal diaphysis morphology, Bell-shaped t... |
ORPHA:2021 |
| Metatropic Dysplasia |
|
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology... |
ORPHA:2635 |
| ERI1-related disease |
|
Dislocated radial head, Pectus carinatum, Oligodactyly, Pectus excavatum, Slender metacarpals, Sy... |
OMIM:608739 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, High palate, ... |
OMIM:147891 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Pectus excavatum, Enamel... |
OMIM:212780 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Abnormal hand morphology, Cleft palate, Malar flattening, Short foot, Small hand |
OMIM:300261 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Delayed cranial suture closure, Microm... |
ORPHA:2249 |
| Ulnar Hypoplasia With Mental Retardation |
|
Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Bilateral ulnar hypoplasia |
OMIM:276821 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Talipes equinovarus, Malar flattening, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the... |
ORPHA:52056 |
| Crane-Heise Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Decreased skull ossification, Abnormally os... |
ORPHA:1512 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... |
OMIM:246570 |
| Acheiropody |
|
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... |
OMIM:200500 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Abnormal pinna morphology, Short ribs, Short long bone, Microtia, E... |
OMIM:617925 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... |
ORPHA:2634 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Short nose, Finger syndactyly, Abnormal antihelix morphology, Microtia, Split hand, Abnormal rib ... |
ORPHA:2145 |
| Achondrogenesis Type 1B |
|
Short nose, Narrow chest, Short thorax, Aplasia/Hypoplasia of the lungs, Abnormal rib morphology,... |
ORPHA:93298 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac ... |
ORPHA:96334 |
| Mental Retardation Syndrome, Mietens-Weber Type |
|
Dislocated radial head, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial ep... |
OMIM:249600 |
| Marshall-Smith Syndrome |
|
Short mandibular rami, Retrognathia, Prominent fingertip pads, Glossoptosis, Pectus excavatum, Mi... |
OMIM:602535 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Irregular epiphyses, Early oss... |
OMIM:208500 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Short ribs, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Hypoplastic ischia,... |
OMIM:151210 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/hypoplasia of the femur, Dislocated radial head, Abnormal pinna morphology, Microtia, Hyp... |
ORPHA:2839 |
| Microphthalmia With Limb Anomalies |
|
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow... |
ORPHA:1106 |
| Cranioectodermal Dysplasia 1 |
|
Radial deviation of finger, Short ribs, Everted lower lip vermilion, Microdontia, Pectus excavatu... |
OMIM:218330 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Respiratory distress, Abnormality of the philtrum, Low-set ears, ... |
ORPHA:2759 |
| Kyphomelic Dysplasia |
|
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Short thorax, Undulate ribs,... |
ORPHA:1801 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,... |
OMIM:311895 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Rhizomelia, Epiphyseal stippling, Stippled calcification proximal humeral epiphyses, ... |
OMIM:222765 |
| Santos Syndrome |
|
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... |
OMIM:613005 |
| Langer Mesomelic Dysplasia |
|
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, High palate... |
ORPHA:2632 |
| Lethal Recessive Chondrodysplasia |
|
Narrow chest, Respiratory distress, Short long bone, Flared elbow metaphyses, Micromelia, Microgn... |
ORPHA:1423 |
| Acromesomelic Dysplasia, Grebe Type |
|
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... |
ORPHA:2098 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal metaphysis morphology, Abnormal lung lobation, Thin vermilion border, Retrognathia, Abno... |
ORPHA:2631 |
| Malan Syndrome |
|
Retrognathia, Advanced eruption of teeth, Short nose, Gingival overgrowth, Mandibular prognathia,... |
OMIM:614753 |
| Orofaciodigital Syndrome Iv |
|
Short finger, Hamartoma of tongue, Tongue nodules, High palate, Low-set ears, Pectus excavatum, F... |
OMIM:258860 |
| Jeune Syndrome |
|
Abnormal metaphysis morphology, Abnormal clavicle morphology, Cone-shaped epiphysis, Narrow chest... |
ORPHA:474 |
| Grant Syndrome |
|
Abnormal palate morphology, Abnormal cortical bone morphology, Joint dislocation, Narrow chest, W... |
ORPHA:2097 |
| Meier-Gorlin Syndrome 1 |
|
Absent sternal ossification, Pectus carinatum, Microtia, Short ribs, Microdontia, Death in infanc... |
OMIM:224690 |
| Boomerang Dysplasia |
|
Fibular aplasia, Hypoplastic iliac body, Neonatal death, Absent radius, Wide nasal bridge |
OMIM:112310 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Fibular hypoplasia, Finger syndactyly, Microtia, Abnormal pelvic girdle bone morphology, Finger a... |
ORPHA:1788 |
| Cerebrocostomandibular Syndrome |
|
Anomalous rib insertion to vertebrae, Glossoptosis, Short humerus, Thoracic hypoplasia, Long phil... |
OMIM:117650 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Respiratory distress, Short ribs, ... |
OMIM:617895 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal metaphysis morphology, Narrow chest, Mesomelic/rhizomelic limb shortening, Abnormal rib ... |
ORPHA:1354 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t... |
ORPHA:93267 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pectus carinatum, Short metacarpal, Hypoplastic pelvis, Abnormal epiphysis morphology, Abnormal c... |
ORPHA:93351 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Genu valgum, Reduced bone mineral density, Abnormal foot morphology, Smal... |
ORPHA:94068 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... |
OMIM:609052 |
| Acheiropodia |
|
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Abnormal epiphysis morpholo... |
ORPHA:931 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp... |
OMIM:268305 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate... |
OMIM:268310 |
| Pallister-Hall Syndrome |
|
Microtia, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly,... |
OMIM:146510 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... |
OMIM:601438 |
| Schneckenbecken Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ... |
ORPHA:3144 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno... |
ORPHA:2491 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Short nose, Clinoda... |
ORPHA:2557 |
| Odontochondrodysplasia |
|
Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Short nose, Narrow chest, Delay... |
ORPHA:166272 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... |
ORPHA:3035 |
| Fetal Akinesia Deformation Sequence 4 |
|
Rocker bottom foot, Retrognathia, 11 pairs of ribs, High palate, Low-set ears, Camptodactyly, Pre... |
OMIM:618393 |
| Mucolipidosis Ii Alpha/Beta |
|
Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Wide mouth, Bullet-sh... |
OMIM:252500 |
| Greenberg Dysplasia |
|
Retrognathia, Short ribs, Short long bone, Short metacarpal, Decreased skull ossification, Multip... |
OMIM:215140 |
| Achondrogenesis Type 1A |
|
Short nose, Narrow chest, Short thorax, Recurrent fractures, Short foot, Abnormal enchondral ossi... |
ORPHA:93299 |
| Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia, Single transverse palmar crease, Craniosynostosis |
OMIM:218550 |
| Femoral-Facial Syndrome |
|
Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Syndactyly, Absent verteb... |
OMIM:134780 |
| Metatropic Dysplasia |
|
Narrow greater sciatic notch, Relatively short spine, Short ribs, Long coccyx, Cupped ribs, Flare... |
OMIM:156530 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd... |
ORPHA:363417 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F... |
ORPHA:3329 |
| Ivic Syndrome |
|
Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ... |
OMIM:147750 |
| Catel-Manzke Syndrome |
|
Chronic otitis media, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Glossopt... |
ORPHA:1388 |
| 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 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Retrognathia, Short nose, Gingival fibromatosis, Respiratory distress, Gingival overgrowth, Delay... |
ORPHA:1832 |
| Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... |
OMIM:191440 |
| Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal foot morphology, Conical tooth, Midgut... |
OMIM:263750 |
| Mosaic Trisomy 14 |
|
Bilateral single transverse palmar creases, Low-set, posteriorly rotated ears, Narrow chest, Ecto... |
ORPHA:1703 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sclerosis, Death... |
OMIM:122860 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Long nose, Protruding ear, Clinodactyly of the 5th finger, Short philtrum... |
ORPHA:52 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Retrognathia, Recurrent otitis media, Clinodactyly of the 5th finger, Oligodactyly, Low-set ears,... |
OMIM:619758 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Rocker bottom foot, Abnormal earlobe morphology, Proximal tibial and fibular fusion, Abnormal pin... |
ORPHA:95699 |
| W Syndrome |
|
Hypoplasia of the ulna, Pes cavus, Cubitus valgus, Broad uvula, Camptodactyly, Metatarsus adductu... |
ORPHA:2804 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Sensorineural hearing impairment... |
OMIM:608154 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... |
ORPHA:174 |
| Omodysplasia 1 |
|
Limited knee extension, Short humerus, Long philtrum, Fibular hypoplasia, Axillary pterygium, Rhi... |
OMIM:258315 |
| Axial Spondylometaphyseal Dysplasia |
|
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... |
ORPHA:168549 |
| Orofaciodigital Syndrome Ix |
|
High palate, Abnormality of the dentition, Camptodactyly, Hand polydactyly, Cleft palate, Recurre... |
OMIM:258865 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... |
OMIM:113310 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... |
OMIM:610713 |
| Achondrogenesis Type 2 |
|
Abnormal bone ossification, Delayed pubic bone ossification, Narrow chest, Short ribs, Short long... |
ORPHA:93296 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Retrognathia, Atelectasis, Respiratory distress, Thin ribs, High palate, Death in infancy, Neonat... |
OMIM:300219 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Thin ribs, Femoral bowing, Short... |
OMIM:620076 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Aarskog-Scott Syndrome |
|
Abnormal pinna morphology, Everted lower lip vermilion, Pectus excavatum, Long philtrum, Joint hy... |
ORPHA:915 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Mixed hearing impairment, Multiple joint dislocation, Repeated pneumothoraces, Pectus carinatum, ... |
ORPHA:536467 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Irregular epiphyses of the metacarpals, Short long bone, Short metacarpal, Patellar dislocation, ... |
OMIM:614078 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Orofacial cleft, Death in early adulthood, Femoral retroversion, Sensorineural hearing impairment... |
ORPHA:79107 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Microtia, Everted lower lip vermilion, Joint stiffness, Long philtrum, Intrauterine growth retard... |
OMIM:620494 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Thin vermilion border, Short philtrum, Flared metaphysis, Premature loss of teeth, Short middle p... |
OMIM:156510 |
| Catel-Manzke Syndrome |
|
Pectus carinatum, Glossoptosis, Short metacarpal, Pectus excavatum, Ulnar deviation of the 2nd fi... |
OMIM:616145 |
| Melnick-Needles Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Short distal phalanx of finger, Joint hypermo... |
ORPHA:2484 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Retrognathia, Low-set ears, Abnormal number of incisors, Osteoporosis, Bilateral talipes equinova... |
ORPHA:2958 |
| Fanconi Anemia, Complementation Group O |
|
Hypoplasia of the radius, Proximal placement of thumb, Miscarriage, Anal atresia, Death in infanc... |
OMIM:613390 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Death in infa... |
OMIM:619135 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Short long bone, Tooth agenesis, Flattened epiphysis, Thoracic hypoplasia, Joint hypermobility, C... |
OMIM:618363 |
| Diastrophic Dysplasia |
|
Short finger, Genu valgum, Irregular epiphyses, Cystic lesions of the pinnae, Hitchhiker thumb, S... |
OMIM:222600 |
| Hypophosphatasia |
|
Abnormal metaphysis morphology, Emphysema, Narrow chest, Bowing of the long bones, Abnormal rib m... |
ORPHA:436 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... |
OMIM:602418 |
| Thanatophoric Dysplasia Type 1 |
|
Abnormal metaphysis morphology, Narrow chest, Short greater sciatic notch, Femoral bowing, Split ... |
ORPHA:1860 |
| Waardenburg Syndrome Type 3 |
|
Atelectasis, Tracheomalacia, Abnormal finger morphology, Abnormality of the upper limb, Synostosi... |
ORPHA:896 |
| Arthrogryposis, Distal, Type 7 |
|
Hammertoe, Metatarsus adductus, Micrognathia, Distal arthrogryposis, Cutaneous syndactyly of toes... |
OMIM:158300 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Bilateral single transverse palmar creases, Multiple carpal ossification centers, Generalized bon... |
OMIM:143095 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Enamel hypoplasia, Downturned corners of mouth, Brachydactyly, Abnormal ... |
ORPHA:2643 |
| Orofaciodigital Syndrome Type 2 |
|
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... |
ORPHA:2751 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Subperiosteal bone formation, Narrow chest, Respiratory distress, Thin ribs, Short ri... |
OMIM:618188 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Widely spaced teeth, Joint dislocation, Respiratory distress, Macrotia, Micrognathia, Wide mouth,... |
OMIM:300934 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Thin vermilion border, Short nose, Narrow mouth... |
ORPHA:96097 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bulging of the costochondral junction, Tibial bowing, Femoral bowing, Metaphyseal irregularity, R... |
OMIM:277440 |
| Auriculocondylar Syndrome 2A |
|
Short mandibular rami, Respiratory distress, Mandibular condyle hypoplasia, Dental crowding, Sten... |
OMIM:614669 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic iliac wing, Microtia, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Absen... |
OMIM:263650 |
| Stuve-Wiedemann Syndrome 2 |
|
Stillbirth, Respiratory distress, Short long bone, Death in adolescence, Bowing of the long bones... |
OMIM:619751 |
| Mesomelic Limb Shortening And Bowing |
|
Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Microg... |
OMIM:249710 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... |
ORPHA:2639 |
| Diaphanospondylodysostosis |
|
Absent in utero rib ossification, Short nose, Hammertoe, Bell-shaped thorax, Tracheomalacia, Resp... |
OMIM:608022 |
| Pseudoachondroplasia |
|
Short long bone, Flat acetabular roof, Increased laxity of ankles, Hypoplastic pelvis, Joint stif... |
ORPHA:750 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Lower limb undergrowth, Orofacial cleft, Forearm undergrowth |
OMIM:218650 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Osteopenia, Recurrent lower respiratory tract infections, Pectus carinatum, High palate, Broad th... |
OMIM:620194 |
| Kniest Dysplasia |
|
Tibial bowing, Pectus excavatum, Dumbbell-shaped long bone, Hypoplastic pelvis, Dumbbell-shaped f... |
OMIM:156550 |
| Saul-Wilson Syndrome |
|
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... |
OMIM:618150 |
| Juberg-Hayward Syndrome |
|
Hypoplasia of the radius, Orofacial cleft, Abnormality of the wrist, Abnormal metacarpal morpholo... |
ORPHA:2319 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Abnormal palate morphology, Clinodactyly of the 5th finger, Aplasi... |
ORPHA:3082 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna |
ORPHA:1122 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Hypoplasia of the ulna, Hearing abnormality, Clinodactyly of the 5th finger, Aplasia/Hypoplasia o... |
ORPHA:1352 |
| Brachydactyly, Type A1, C |
|
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... |
OMIM:615072 |
| Atelosteogenesis, Type Iii |
|
Widened distal phalanges, Rhizomelia, Tombstone-shaped proximal phalanges, Sandal gap, Hitchhiker... |
OMIM:108721 |
| Aase-Smith Syndrome |
|
Abnormal hip bone morphology, Abnormal pinna morphology, Slender finger, Joint stiffness, Camptod... |
ORPHA:916 |
| Tibial Hemimelia |
|
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... |
ORPHA:93322 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Retrognathia, Bowed humerus, Short clavicles, Elbow flexion contracture, Bilateral talipes equino... |
OMIM:618022 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Mixed hearing impairment, Carpal bone aplasia, Oligodactyly, Severe intra... |
OMIM:218600 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Fibular bowing, Enlargement of the costochondral junction, Delayed epiphyseal ossificati... |
OMIM:600081 |
| Kinsship Syndrome |
|
Dislocated radial head, Death in infancy, Mesomelia, Wide mouth, Cervical ribs, Coxa valga, Hip d... |
OMIM:619297 |
| Holzgreve Syndrome |
|
Abnormal metacarpal morphology, Low-set, posteriorly rotated ears, Abnormally ossified vertebrae,... |
ORPHA:2167 |
| Autosomal Recessive Omodysplasia |
|
Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Pterygium, Elb... |
ORPHA:93329 |
| Arthrogryposis, Distal, Type 1C |
|
Rocker bottom foot, Thin vermilion border, Retrognathia, Clinodactyly of the 5th finger, Shoulder... |
OMIM:619110 |
| Dystonia-Deafness Syndrome 1 |
|
Femoral retroversion, Sensorineural hearing impairment, Cleft upper lip, Cleft palate, Hypoplasti... |
OMIM:607371 |
| Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Bilateral cleft palate, Stenosis of the externa... |
OMIM:614900 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly, Recurrent otitis media, Respiratory distress, Bronchiolitis, Hearing impairment, Rec... |
OMIM:615993 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Metacarpal osteolysis, Ankle swelling, Pes cavus, Wrist swelling, Carpal osteolysis, ... |
OMIM:166300 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Osteopenia, Short nose, Lambdoidal craniosynostosis, High palate, Abnorma... |
OMIM:615398 |
| Heart-Hand Syndrome Type 2 |
|
Abnormal clavicle morphology, Short 4th metacarpal, Abnormal palate morphology, Abnormal shoulder... |
ORPHA:1350 |
| Radio-Renal Syndrome |
|
Hypoplasia of the radius, High, narrow palate, Retrognathia, Respiratory distress, Chylothorax, P... |
ORPHA:3015 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot... |
OMIM:263520 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Respiratory distress, Short thorax, Enlarged thora... |
ORPHA:66637 |
| Holt-Oram Syndrome |
|
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus... |
OMIM:142900 |
| Martsolf Syndrome 1 |
|
Slender ulna, Pectus carinatum, Short metacarpal, Pectus excavatum, Broad femoral neck, Long phil... |
OMIM:212720 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Ankle flexion contracture, Retrognathia, Dental crowding, Elbow flexion contracture, ... |
OMIM:617468 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal earlobe morphology, Skewfoot, Abnormal pinna morphology, Stiff ankle, Short metacarpal, ... |
ORPHA:93307 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes, Cubitus v... |
ORPHA:1836 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short ribs, Short long bone, Sh... |
OMIM:271665 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De... |
OMIM:617405 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Fibular bowing, Enlargement of the costochondral junction, Delayed epiphyseal ossificati... |
OMIM:264700 |
| Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
| 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 |
| Moebius Syndrome |
|
High palate, Radial deviation of finger, Respiratory distress, Abnormal pinna morphology, Split h... |
OMIM:157900 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Abnormal hip bone morphology, Low-set, posteriorly rotated ear... |
ORPHA:1486 |
| Asbestos Intoxication |
|
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele... |
ORPHA:2302 |
| Atelosteogenesis, Type Ii |
|
Stillbirth, Sandal gap, Bifid humerus, Hitchhiker thumb, Short greater sciatic notch, Flat acetab... |
OMIM:256050 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Abnormality of chromosome stability, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
| Fibrochondrogenesis 2 |
|
Short nose, Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Sho... |
OMIM:614524 |
| Congenital Myopathy 22B, Severe Fetal |
|
Retrognathia, Dental crowding, Pectus excavatum, Thoracic hypoplasia, Triangular mouth, Short phi... |
OMIM:620369 |
| Fibrous Dysplasia Of Bone |
|
Abnormal femur morphology, Pathologic fracture, Osteolysis, Rickets, Abnormal clavicle morphology... |
ORPHA:249 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Femoral retroversion, Unilateral wrist flexion contracture, Micrognathia, Pulmonary hypoplasia, K... |
OMIM:616531 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... |
OMIM:271650 |
| Shox-Related Short Stature |
|
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Tibial bowing, Hi... |
ORPHA:314795 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact... |
ORPHA:392 |
| Spondylometaphyseal Dysplasia, Axial |
|
Narrow greater sciatic notch, Rhizomelia, Narrow chest, Coxa vara, Anterior rib cupping, Recurren... |
OMIM:602271 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Barrel-shaped chest, Increased bone mineral density, Premature loss of teeth, Sensori... |
OMIM:239000 |
| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis |
OMIM:614416 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal palate morphology, Abnormal shoulder morphology, Tooth agenesis, Micrognathia, Mesomelia... |
ORPHA:1277 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... |
ORPHA:3269 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Proximal placement of thumb, Esophageal atresia, Tracheoesophageal fistula, Anal atresia, Hand po... |
OMIM:314390 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
| Duane-Radial Ray Syndrome |
|
Pectoralis hypoplasia, Sandal gap, Sensorineural hearing impairment, Short humerus, Absent thumb,... |
OMIM:607323 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Enamel hypomineralization, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped... |
OMIM:307800 |
| Arms, Malformation Of |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis |
OMIM:107900 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Tessier cleft, Bilateral cleft palate, Amelia, Low-set ears, Cleft upper lip, Foot oligodactyly, ... |
OMIM:601357 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short nose, Rhizomelia, Short philtrum, Hypoplastic iliac wing, Thin ribs, Abnormality of the cal... |
ORPHA:163966 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... |
OMIM:615633 |
| Slc35A2-Cdg |
|
Osteopenia, Abnormality of the hand, Hip subluxation, Abnormal long bone morphology, Talipes equi... |
ORPHA:356961 |
| Aicardi Syndrome |
|
Intestinal polyposis, Short philtrum, Missing ribs, Rib fusion, Cleft upper lip, Supernumerary ri... |
ORPHA:50 |
| 3Mc Syndrome 2 |
|
Limited elbow movement, Caudal appendage, High palate, Hearing impairment, Cleft upper lip, Downt... |
OMIM:265050 |
| Tarp Syndrome |
|
Rocker bottom foot, Meckel diverticulum, Microtia, Glossoptosis, Pectus excavatum, Intrauterine g... |
OMIM:311900 |
| Meier-Gorlin Syndrome 4 |
|
Lateral clavicle hook, Thick lower lip vermilion, Emphysema, Slender long bone, Genu recurvatum, ... |
OMIM:613804 |
| Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... |
ORPHA:3104 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor... |
OMIM:250460 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Miscarriage, Short ribs, Short long bone, Hypoplastic ischia, Pterygium, Micromelia, Cleft palate... |
ORPHA:1865 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Fibular hypoplasia, Pectus excavatum, Pseudoarthrosis |
OMIM:607278 |
| Occipital Horn Syndrome |
|
Limited elbow extension, Long philtrum, Genu valgum, Narrow chest, Hiatus hernia, Short clavicles... |
OMIM:304150 |
| Kagami-Ogata Syndrome |
|
Retrognathia, Long clavicles, Bell-shaped thorax, Thin ribs, Microtia, Hypoplasia of the maxilla,... |
OMIM:608149 |
| Pierre Robin Syndrome And Oligodactyly |
|
Micrognathia, Pierre-Robin sequence, Cleft palate, Finger aplasia |
OMIM:172880 |
| Multiple Osteochondromas |
|
Intestinal obstruction, Abnormal femur morphology, Limitation of knee mobility, Abnormal lower li... |
ORPHA:321 |
| Codas Syndrome |
|
Pes valgus, Genu valgum, Proximal placement of thumb, Rectovaginal fistula, Delayed eruption of t... |
OMIM:600373 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Rocker bottom foot, Equinovarus deformity, Ankle flexion contracture, Respiratory distress, Elbow... |
ORPHA:1143 |
| Multiple Pterygium Syndrome, X-Linked |
|
Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Low-set ears, Cleft upper lip, Mic... |
OMIM:312150 |
| Renpenning Syndrome |
|
Abnormal thumb morphology, High, narrow palate, Clinodactyly of the 5th finger, Short philtrum, S... |
ORPHA:3242 |
| Pde4D Haploinsufficiency Syndrome |
|
Short metacarpal, Broad metatarsal, Long philtrum, Joint hypermobility, Intrauterine growth retar... |
ORPHA:439822 |
| Jackson-Weiss Syndrome |
|
Abnormal fibula morphology, Abnormal palate morphology, Short metatarsal, 2-3 toe syndactyly, Man... |
ORPHA:1540 |
| Frontonasal Dysplasia 1 |
|
Widely-spaced maxillary central incisors, Radial deviation of finger, Pectoral muscle hypoplasia/... |
OMIM:136760 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Widely spaced teeth, Narrow chest, Bowed humerus, Short lingual frenulum, Short long bone, Low-se... |
OMIM:619479 |
| Meier-Gorlin Syndrome 3 |
|
Absent sternal ossification, Microtia, Short ribs, Intrauterine growth retardation, Genu varum, S... |
OMIM:613803 |
| 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 |
| Recon Progeroid Syndrome |
|
Thin vermilion border, Proximal placement of thumb, Dental crowding, Microtia, Attached earlobe, ... |
OMIM:620370 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormal pinna... |
OMIM:184705 |
| Nager Syndrome |
|
Hypoplasia of the radius, Abnormal palate morphology, Triphalangeal thumb, Low-set, posteriorly r... |
ORPHA:245 |
| Pseudoachondroplasia |
|
Short long bone, Short metacarpal, Metaphyseal irregularity, Joint hypermobility, Limited shoulde... |
OMIM:177170 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Abnormal pinna morphology, Split hand, Ectrodactyly, Finger aplasia, Split f... |
OMIM:183600 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Low-set ears, Micrognathia, Cleft palate, Intrauterine growth retardation, Ar... |
OMIM:616570 |
| Pycnodysostosis |
|
Hypoplastic iliac wing, Acromelia, Persistent open anterior fontanelle, Mesomelia, Joint hypermob... |
ORPHA:763 |
| Immunodeficiency 43 |
|
Hypoplasia of the ulna, Lung abscess, Organizing pneumonia, Radial bowing, Bronchiectasis, Recurr... |
OMIM:241600 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis, High-frequency hearing impairment, Otitis media, Chronic sinus... |
OMIM:300455 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxilla |
ORPHA:2776 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Pallister-Hall-Like Syndrome |
|
Short nose, Short ribs, Postaxial hand polydactyly, Micromelia, Death in infancy, Micrognathia, C... |
OMIM:241800 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Hypophosphatemic rickets, Fibular bowing, Enlargement of the costochondral junction, Del... |
OMIM:241530 |
| Gordon Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, High palate, Pectus excavatum, Short stature, ... |
ORPHA:376 |
| Lujan-Fryns Syndrome |
|
Protruding ear, Short philtrum, Dental crowding, High palate, Abnormality of the dentition, Low-s... |
ORPHA:776 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Enlarged metaphyses, Microtia, Bifid first metacarpal, Femoral bowing, Short metacarpal, Death in... |
OMIM:210710 |
| Perching Syndrome |
|
Joint contracture, High palate, Camptodactyly, Respiratory distress |
OMIM:617055 |
| 20P12.3 Microdeletion Syndrome |
|
Pectus carinatum, Microtia, Narrow mouth, Broad thumb, Hypoplasia of the maxilla, Malar flattenin... |
ORPHA:261295 |
| Gollop-Wolfgang Complex |
|
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Split-Hand/Foot Malformation 3 |
|
Abnormal pinna morphology, Narrow mouth, High palate, Split hand, Camptodactyly, Hypoplasia of th... |
OMIM:246560 |
| Otopalatodigital Syndrome, Type Ii |
|
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, Pectus excavatum... |
OMIM:304120 |
| Phaver Syndrome |
|
Triphalangeal thumb, Pterygium, Aplasia/Hypoplasia of the earlobes, Pulmonary artery atresia, Low... |
ORPHA:2876 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Recurrent lower respiratory tract infections, Delayed eruption of teeth, Broad clavicles, Gingiva... |
ORPHA:508542 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Short nose, Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia... |
OMIM:300863 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
High palate, Hypoplasia of the maxilla, Camptodactyly of finger, Short palm, Clinodactyly, Protru... |
ORPHA:85279 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Flared iliac wing, Flattened epiphysis, Broad palm, Short finger, Small epiphyses, Metaphyseal wi... |
OMIM:300232 |
| Orofaciodigital Syndrome Ii |
|
Pectus excavatum, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, ... |
OMIM:252100 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short nose, Death in childhood, Wide distal femoral metaphysis, Bell-shaped thorax, Delayed epiph... |
OMIM:613320 |
| Otopalatodigital Syndrome Type 1 |
|
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Increased ... |
ORPHA:90650 |
| Mucopolysaccharidosis, Type Iva |
|
Pectus carinatum, Constricted iliac wing, Wide mouth, Large elbow, Joint hypermobility, Coxa valg... |
OMIM:253000 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Dental crowding, Wormian bones, Mandi... |
OMIM:269300 |
| Tetrasomy 9P |
|
Bilateral single transverse palmar creases, Abnormal number of permanent teeth, Abnormal earlobe ... |
ORPHA:3310 |
| Desbuquois Dysplasia 1 |
|
Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Joint hy... |
OMIM:251450 |
| Maxillonasal Dysplasia |
|
Short nose, Mandibular prognathia, Open bite, Microdontia, Tooth agenesis, Hypoplasia of the maxi... |
ORPHA:1248 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Genu valgum, Arthralgia of the hip, Delayed epiphyseal ossification, Short long bone, Limitation ... |
ORPHA:93308 |
| Ear-Patella-Short Stature Syndrome |
|
Retrognathia, Bifid uvula, Abnormal epiphysis morphology, Joint hypermobility, Craniosynostosis, ... |
ORPHA:2554 |
| Antley-Bixler Syndrome |
|
Short nose, Talipes, Low-set, posteriorly rotated ears, Narrow chest, Delayed cranial suture clos... |
ORPHA:83 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Pectus excavatum, Short distal phalanx of finger, Talipes calcaneovarus, Furrowed tongue, Large h... |
OMIM:300534 |
| Multiple Synostoses Syndrome 3 |
|
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... |
OMIM:612961 |
| N Syndrome |
|
Abnormality of chromosome stability, Leukemia |
OMIM:310465 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Chronic otitis media, Atelectasis, Respiratory distress, Bronchiectasis, Recurrent respiratory in... |
OMIM:619466 |
| Achondrogenesis, Type Ii |
|
Short tubular bones of the hand, Stillbirth, Abnormal foot morphology, Barrel-shaped chest, Hypop... |
OMIM:200610 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... |
OMIM:600785 |
| Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
| Van Maldergem Syndrome 1 |
|
Sensorineural hearing impairment, Microtia, Joint hypermobility, Clinodactyly, Short 4th metacarp... |
OMIM:601390 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Rhizomelia, Narrow chest, Angulated humerus, Recurrent fractures, Short long bone, Wo... |
OMIM:616229 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Short ribs, Short long bone, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var... |
OMIM:250420 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ... |
OMIM:617604 |
| Greenberg Dysplasia |
|
Abnormal bone ossification, Rhizomelia, Narrow chest, Abnormal pelvis bone ossification, Anterior... |
ORPHA:1426 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin clavicles, Calvarial osteosclerosis, Thin ribs, Delayed cranial suture closure, Decreased sk... |
ORPHA:93324 |
| Farber Disease |
|
Short finger, Abnormality of the hand, Abnormal foot morphology, Atelectasis, Abnormality of the ... |
ORPHA:333 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Pectus carinatum, Pectus excavatum, Decreased calvarial ossification, Multip... |
OMIM:259440 |
| Orofaciodigital Syndrome Xviii |
|
Preaxial polydactyly, Genu valgum, Sandal gap, Short philtrum, Single transverse palmar crease, P... |
OMIM:617927 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Short tubular bones of the hand, Osteopenia, Abnormal foot morphology, Abnormal diaphysis morphol... |
ORPHA:85184 |
| Acromegaloid Facial Appearance Syndrome |
|
Micrognathia, Large hands, Deep philtrum, Thick vermilion border, Joint hypermobility, Tapered fi... |
OMIM:102150 |
| Lethal Congenital Contracture Syndrome 10 |
|
Narrow palate, Stiff neck, Narrow chest, Femoral bowing, Short long bone, High palate, Low-set ea... |
OMIM:617022 |
| Tarp Syndrome |
|
Rocker bottom foot, Small earlobe, Glossoptosis, Pectus excavatum, Abnormal duodenum morphology, ... |
ORPHA:2886 |
| X-Linked Hypophosphatemia |
|
Reduced bone mineral density, Sensorineural hearing impairment, Flared iliac wing, Abnormal epiph... |
ORPHA:89936 |
| Thoracomelic Dysplasia |
|
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... |
ORPHA:1803 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short nose, Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdevelop... |
ORPHA:79113 |
| Dysosteosclerosis |
|
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon... |
OMIM:224300 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Abnormality of the wrist, Sensorineural hearing impairment, Narrow mouth, Hypoplasia ... |
ORPHA:1529 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Low-set ears, Micrognathia, Cleft ... |
OMIM:253290 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Short nose, Mixed hearing impairment, Epiphyseal stippling of toe phalanges, Epiphyseal stippling... |
ORPHA:79345 |
| Metaphyseal Anadysplasia |
|
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Abnormality of the lower li... |
ORPHA:1040 |
| Paget Disease Of Bone 2, Early-Onset |
|
Premature loss of teeth, Osteosclerosis of the ulna, Femoral bowing, Fractures of the long bones,... |
OMIM:602080 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Distal lower ... |
ORPHA:254361 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Abnormal thumb morphology, Aganglionic megacolon, Radial club hand, Triph... |
ORPHA:959 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Retrognathia, Pulmonary artery aneurysm, Death in childhood, Emphysema, Abnormal pinna morphology... |
OMIM:614437 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Microtia, Short long bone, Glossoptosis, Broad femoral neck, Long philtrum, Intrauterine growth r... |
OMIM:611209 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ... |
OMIM:170390 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... |
OMIM:184250 |
| Pelvis-Shoulder Dysplasia |
|
Clinodactyly of the 5th finger, Hypoplastic acetabulae, Short clavicles, Hypoplastic ilia, Congen... |
OMIM:169550 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing... |
OMIM:608728 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Fusion of gums, Irregular dentition, Abnormal maxilla morphology, Cleft upper lip, Cleft lower li... |
ORPHA:401942 |
| Aicardi Syndrome |
|
Bifid ribs, Proximal placement of thumb, Missing ribs, Cleft upper lip, Supernumerary ribs, Block... |
OMIM:304050 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Retrognathia, Small epiphyses, Short long bone, Knee dislocation, Glossoptosis, Cleft palate, Pie... |
OMIM:620269 |
| Cooper-Jabs Syndrome |
|
Reduced bone mineral density, Proximal placement of thumb, Abnormal hip bone morphology, Low-set,... |
ORPHA:1488 |
| Arthrogryposis Multiplex Congenita-Whistling Face Syndrome |
|
Thin vermilion border, Abnormal palate morphology, Abnormal shoulder morphology, Hearing abnormal... |
ORPHA:1150 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Abnormal metacarpal morphology, Sensorineural hearing impairment, Pectus carinatum, Glossoptosis,... |
ORPHA:166100 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Short nose, 2-3 toe syndactyly, High palate, Hypoplasia of the maxilla, Macrotia, Long fingers, R... |
OMIM:218000 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Mixed hearing impairment, Large tarsal bones, Flared metaphysis, Sensorineural hearing impairment... |
OMIM:215150 |
| Aarskog-Scott Syndrome |
|
Radial deviation of finger, Pectus excavatum, Syndactyly, Broad philtrum, Joint hypermobility, Br... |
OMIM:305400 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Oligodactyly, Amelia, Tracheoesophageal fistula, Intestinal malrotati... |
ORPHA:2538 |
| Mucopolysaccharidosis, Type Ivb |
|
Joint stiffness, Constricted iliac wing, Wide mouth, Joint hypermobility, Coxa valga, Cervical su... |
OMIM:253010 |
| Dyggve-Melchior-Clausen Disease |
|
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... |
ORPHA:239 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Orofacial cleft, Aplasia/Hypoplasia of the thum... |
ORPHA:3186 |
| Chondrodysplasia, Blomstrand Type |
|
Stillbirth, Narrow chest, Flared metaphysis, Squared iliac bones, Short ribs, Micromelia, Microgn... |
OMIM:215045 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal metaphysis morphology, Grayish enamel, Genu valgum, Reduced bone mineral density, Joint ... |
ORPHA:582 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... |
OMIM:300106 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, High palate, Pectus excavatum, Camptodactyly of finger, Cleft palate, Talip... |
OMIM:614399 |
| Primary Ciliary Dyskinesia |
|
Chronic otitis media, Recurrent otitis media, Atelectasis, Pulmonary situs ambiguus, Clubbing, Na... |
ORPHA:244 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, D... |
OMIM:620099 |
| Yunis-Varon Syndrome |
|
Bilateral single transverse palmar creases, Absent sternal ossification, Broad alveolar ridges, M... |
OMIM:216340 |
| Mesomelia-Synostoses Syndrome |
|
Abnormal femur morphology, Joint stiffness, Abnormal oral frenulum morphology, Mesomelia, Long ph... |
ORPHA:2496 |
| Stickler Syndrome Type 1 |
|
Long philtrum, Short nose, Abnormal vertebral epiphysis morphology, Sensorineural hearing impairm... |
ORPHA:90653 |
| Keipert Syndrome |
|
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Sensorineural heari... |
ORPHA:2662 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Genu valgum, Irregular epiphyses, Arthralgia of the hip, Small epiphyses, Delayed ossification of... |
OMIM:607078 |
| Terminal Osseous Dysplasia |
|
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone structure, Abnormality o... |
OMIM:300244 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dislocated radial head, Pectus carinatum, Abnormal pinna morphology, Pectus excavatum, Arachnodac... |
OMIM:182212 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata... |
OMIM:259600 |
| Cartilage-Hair Hypoplasia |
|
Abnormal bone ossification, Abnormal hip bone morphology, Disproportionate short-limb short statu... |
ORPHA:175 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Respiratory distress, Short ribs, Elbow flexion contracture, Cupped ri... |
ORPHA:1145 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Mandibular prognathia, High palate, Low-set ears, ... |
ORPHA:2180 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Limitation of joint mobility, Coxa vara, Micromelia, Short palm, Flared, irregular rib ends |
ORPHA:168555 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Sensorineural he... |
OMIM:305620 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Osteopenia, Long philtrum, Abnormality of the hand, Clinodactyly of the 5th finger, High palate, ... |
ORPHA:576283 |
| Van Maldergem Syndrome 2 |
|
Sensorineural hearing impairment, Microtia, Joint hypermobility, Clinodactyly, Short 4th metacarp... |
OMIM:615546 |
| Carpenter Syndrome 1 |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Flared iliac wing, Duplication of th... |
OMIM:201000 |
| Premature Aging Syndrome, Penttinen Type |
|
Retrognathia, Sensorineural hearing impairment, Tibial bowing, Flexion contracture of finger, Cer... |
OMIM:601812 |
| Cohen Syndrome |
|
High, narrow palate, Genu valgum, Cubitus valgus, Short metatarsal, Short philtrum, Single transv... |
OMIM:216550 |
| Shprintzen-Goldberg Syndrome |
|
Retrognathia, Pectus carinatum, Pectus excavatum, Joint stiffness, Arachnodactyly, Joint hypermob... |
ORPHA:2462 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal lung lobation, Abnormal thumb morphology, Bilateral single transverse palmar creases, Tr... |
ORPHA:1120 |
| Transcobalamin Deficiency |
|
Pancytopenia, Abnormality of chromosome stability, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
| Wiedemann-Rautenstrauch Syndrome |
|
Small earlobe, Short humerus, Hypoplastic facial bones, Long philtrum, Intrauterine growth retard... |
OMIM:264090 |
| Hypophosphatasia, Childhood |
|
Carious teeth, Rachitic rosary, Premature loss of primary teeth, Craniosynostosis, Bowing of the ... |
OMIM:241510 |
| Acrocraniofacial Dysostosis |
|
Abnormal hip bone morphology, Sensorineural hearing impairment, Abnormal pinna morphology, Pectus... |
ORPHA:949 |
| Bronchopulmonary Dysplasia |
|
Emphysema, Atelectasis, Respiratory distress, Tracheobronchomalacia, Pulmonary sequestration, Dys... |
ORPHA:70589 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Exertional dyspnea, Reticular pattern on pulmonary HRCT, Crazy paving pattern, Clubbing, Death in... |
OMIM:610921 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Limited elbow movement, Pes cavus, Retrognathia, Hyperplasia of the maxilla, Dislocation of toes,... |
OMIM:300280 |
| C1Q Deficiency 2 |
|
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Arthritis, Ora... |
OMIM:620321 |
| Rothmund-Thomson Syndrome |
|
Hypoplasia of the ulna, Osteopenia, Supernumerary tooth, Reduced bone mineral density, Metaphysea... |
ORPHA:2909 |
| Ulnar-Mammary Syndrome |
|
Aplasia of the 4th metacarpal, Stiff elbow, Short humerus, Absent radius, Aplasia of the 3rd meta... |
OMIM:181450 |
| Ciliary Dyskinesia, Primary, 21 |
|
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis |
OMIM:615294 |
| Trisomy 13 |
|
Abnormal lung lobation, Bilateral single transverse palmar creases, High, narrow palate, Narrow c... |
ORPHA:3378 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Respiratory distress, Pulmonary hypoplasia, Short femur, Short tibia, Talipes equin... |
OMIM:620306 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Chronic otitis media, Abnormal clavicle morphology, Abnormality of the philtrum, Low-set ears, Ab... |
ORPHA:276422 |
| Tetrasomy 5P |
|
Short nose, Clinodactyly of the 5th finger, Short hallux, Respiratory distress, High palate, Low-... |
ORPHA:3309 |
| Otopalatodigital Syndrome, Type I |
|
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava... |
OMIM:311300 |
| Aspergillosis |
|
Ground-glass opacification, Hypersensitivity pneumonitis, Abnormal long bone morphology, Pleuriti... |
ORPHA:1163 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Chro... |
OMIM:616435 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Abnormal palate morphology, Short nose, Talipes, Narrow mouth, Death in infancy, Camptodactyly of... |
ORPHA:1495 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal bone ossification, Abnormal diaphysis morphology, Generalized bone demineralization, Nar... |
ORPHA:73230 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short nose, Death in childhood, Narrow chest, Short ribs, Short long bone, Metaphyseal widening, ... |
OMIM:618961 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormal lung lobation, Abnormal fibula morphology, Narrow palate, Abnormal femur morphology, Abn... |
ORPHA:2063 |
| Endove Syndrome, Limb-Only Type |
|
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... |
OMIM:619217 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Recurrent lower respiratory tract infections, Joint dislocation, Bowel diverticulosis, Hyperexten... |
OMIM:130000 |
| 8Q24.3 Microdeletion Syndrome |
|
Rocker bottom foot, Pectus excavatum, Cervical ribs, Long philtrum, Joint hypermobility, Short 5t... |
ORPHA:508488 |
| Dysostosis, Stanescu Type |
|
Abnormal metaphysis morphology, Abnormal palate morphology, Increased bone mineral density, Abnor... |
ORPHA:1798 |
| Cardioacrofacial Dysplasia 1 |
|
Genu valgum, Short philtrum, Conical tooth, Postaxial polydactyly, Hypoplasia of the maxilla, Lim... |
OMIM:619142 |
| Cono-Spondylar Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Low-set ears, Epiphyseal dysplasia, Short low... |
ORPHA:420794 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Osteopenia, Chronic otitis media, Atelectasis, Delayed eruption of teeth, Abnormality of the dent... |
ORPHA:2314 |
| Pfeiffer Syndrome Type 2 |
|
Short nose, Deviation of the thumb, Short hallux, Finger syndactyly, Tracheomalacia, Respiratory ... |
ORPHA:93259 |
| Florid Cemento-Osseous Dysplasia |
|
Supernumerary tooth, Multiple bony cystic lesions, Atrophy of alveolar ridges, Abnormality of pri... |
ORPHA:83451 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Split foot, Micrognathia, Cleft palate, Malar flattening, Abnormality of the ear, Toe... |
OMIM:183700 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Plantar flexion contracture, Respiratory distress, Paradoxical respiration, Recurrent acute respi... |
OMIM:620011 |
| Ophthalmomandibulomelic Dysplasia |
|
Ulnar deviated club hands, Obtuse angle of mandible, Abnormality of bone mineral density, Temporo... |
ORPHA:2741 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Equinovarus deformity, Talipes calcaneovarus, Fractures of the long bones, Wide humer... |
ORPHA:319195 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, Short nose, Hypoventilation, Respiratory distress, High palate, Low-set ears, Aspira... |
ORPHA:314655 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho... |
OMIM:250220 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Delayed pubic bone ossification, Limitation of knee mobility, Delayed cal... |
OMIM:183900 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Short long bone, Joint hypermobility, Genu varum, Long fibula, Wide femoral metaphysis, Short pal... |
ORPHA:2502 |
| Acromicric Dysplasia |
|
Cone-shaped epiphysis, Thick lower lip vermilion, Short long bone, Narrow mouth, Short metacarpal... |
OMIM:102370 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Ankle flexion contracture, High, narrow palate, Respiratory distress, Upper limb undergrowth, Cam... |
OMIM:608799 |
| Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Thin clavicles, Calvarial osteosclerosis, Slender long bone, Thin ribs, Decreased... |
OMIM:244460 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Narrow greater sciatic notch, Equinovarus deformity, Narrow chest, Short ribs, Limitation of join... |
OMIM:224400 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
| Thalidomide Embryopathy |
|
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... |
ORPHA:3312 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Thin vermilion border, Long nose, Short nose, Clinodactyly of the 5th finger, Sandal gap, Repeate... |
OMIM:617602 |
| Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
| Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Everted lower lip vermilion, Open mouth, Long philtrum, Prominence of the premaxilla,... |
OMIM:137550 |
| Fanconi Anemia, Complementation Group S |
|
Narrow palate, Proximal placement of thumb, Short stature, Chromosome breakage, Thick upper lip v... |
OMIM:617883 |
| Chitayat Syndrome |
|
Abnormal pulmonary interstitial morphology, Tracheomalacia, Respiratory distress, Hallux valgus, ... |
OMIM:617180 |
| Tetramelic Monodactyly |
|
Oligodactyly, Split hand |
ORPHA:2564 |
| Familial Osteodysplasia, Anderson Type |
|
Aplasia/hypoplasia of the femur, Long nose, Abnormal zygomatic bone morphology, Clinodactyly of t... |
ORPHA:2769 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal palate morphology, Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic... |
ORPHA:1506 |
| Acrocephalopolydactyly |
|
Short nose, Genu recurvatum, Microtia, Short long bone, Limb undergrowth, Thoracic hypoplasia, Br... |
ORPHA:221054 |
| Acrofacial Dysostosis 1, Nager Type |
|
Retrognathia, Radial deviation of finger, Temporomandibular joint ankylosis, Absent thumb, Wide m... |
OMIM:154400 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Abnormal palate morphology, Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Mi... |
ORPHA:1278 |
| Acrorenal Syndrome |
|
Abnormal tibia morphology, Split hand, Micrognathia, Abnormal morphology of ulna, Cleft palate, A... |
ORPHA:971 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... |
ORPHA:3429 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Long philtrum, Rectal prolapse, Death in childhood, Emphysema, Atelectasis, Sandal ga... |
OMIM:613177 |
| Otospondylomegaepiphyseal Dysplasia |
|
Sandal gap, Sensorineural hearing impairment, Tibial bowing, Glossoptosis, Short metacarpal, Abno... |
ORPHA:1427 |
| Myhre Syndrome |
|
Gingival cleft, Large iliac wing, Joint stiffness, Bifid uvula, Unilateral cleft lip, Intrauterin... |
ORPHA:2588 |
| White Forelock With Malformations |
|
Abnormal palate morphology, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Fi... |
ORPHA:2475 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Limited elbow extension, Rhizomelia, Ulnar bowing, Flared metaphysis, Metaphyseal cupping, Small ... |
OMIM:602111 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Narrow palate, Dental crowding, 2-3 toe syndactyly, Pectus carinatum, Exaggerated median tongue f... |
ORPHA:313892 |
| Laurin-Sandrow Syndrome |
|
Mirror image polydactyly, Tarsal synostosis, Triphalangeal thumb, Abnormal metacarpal morphology,... |
ORPHA:2378 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Broad alveolar ridges, Pectus excavatum, Arachnodactyly, Long philtrum, Prominence of the zygomat... |
ORPHA:2215 |
| Coffin-Lowry Syndrome |
|
Sensorineural hearing impairment, Pectus carinatum, Short metacarpal, Everted lower lip vermilion... |
ORPHA:192 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Femoral bowing, Wormian bones, Bowing of the long bones, Abnormality of the dentition,... |
OMIM:617952 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Enlargement of the costochondral junction, Delayed epiphyseal ossification, Delayed erup... |
ORPHA:289157 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Sensorineural hearing impairment, Oligodactyly, Split hand, Absent hand |
ORPHA:2440 |
| Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Microtia, High palate, Condu... |
OMIM:248910 |
| Fragile X Syndrome |
|
Metacarpophalangeal joint hyperextensibility, Mandibular prognathia, Folate-dependent fragile sit... |
OMIM:300624 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Hypoplastic iliac wing, Microtia, Short long bone, Short metacarpal, Pectus excavatum, Wide mouth... |
OMIM:611717 |
| Pfeiffer Syndrome |
|
Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Fing... |
OMIM:101600 |
| Neurofaciodigitorenal Syndrome |
|
Triphalangeal thumb, Abnormal metacarpal morphology, Abnormal tragus morphology, Abnormality of t... |
ORPHA:2673 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Retrognathia, Slender long bone, Thin ribs, Decreased calvarial ossification, Micrognathia, Cleft... |
OMIM:618265 |
| Pallister-Hall Syndrome |
|
Mesoaxial polydactyly, Microtia, Oligodactyly, Broad thumb, Bifid uvula, Intrauterine growth reta... |
ORPHA:672 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Long philtrum, Thin vermilion border, Protruding ear, Pectus carinatum, Thoracic kyphoscoliosis, ... |
ORPHA:481152 |
| Aminopterin Syndrome Sine Aminopterin |
|
Oligodontia, High palate, Low-set ears, Intrauterine growth retardation, Arachnodactyly, Rudiment... |
OMIM:600325 |
| Immunodeficiency 54 |
|
Hepatomegaly, Lymphadenopathy, Chromosome breakage, Splenomegaly, Reduced natural killer cell count |
OMIM:609981 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the maxilla, Cone-shap... |
ORPHA:397973 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Polydactyly, Orofacial cleft, Recurrent respiratory infections, Respiratory distress, Sensorineur... |
ORPHA:17 |
| Cole-Carpenter Syndrome |
|
Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal dental e... |
ORPHA:2050 |
| Spondylospinal Thoracic Dysostosis |
|
Multiple pterygia, Short thorax, Hypoplasia of the maxilla, Micrognathia, Pulmonary hypoplasia, A... |
OMIM:601809 |
| Xylt1-Cdg |
|
Long philtrum, Joint dislocation, Flared metaphysis, Short clavicles, Short long bone, Broad thum... |
ORPHA:370930 |
| Three M Syndrome 2 |
|
Protruding ear, Slender long bone, Delayed eruption of teeth, Pectus carinatum, Thin ribs, Short ... |
OMIM:612921 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Rocker bottom foot, Abnormal hip bone morphology, Abnormal sternum morphology, Short long bone, S... |
ORPHA:457395 |
| 8Q22.1 Microdeletion Syndrome |
|
Sandal gap, Finger syndactyly, Abnormal antihelix morphology, Abnormal pinna morphology, Limitati... |
ORPHA:178303 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Intrauterine growth retardation, Abnormal rib morphology, Micr... |
ORPHA:2772 |
| Hoxha-Aliu Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec... |
OMIM:620662 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Protruding ear, Gingival overgrowth, Pectus excavatum, Macrotia, Micrognathia, Cleft palate, Shor... |
ORPHA:2013 |
| Arthrogryposis, Distal, Type 2B1 |
|
Rocker bottom foot, Abnormality of the ear, Mandibular prognathia, Absent phalangeal crease, Ulna... |
OMIM:601680 |
| Charlie M Syndrome |
|
Thin vermilion border, Triphalangeal thumb, Abnormal metacarpal morphology, Short philtrum, Finge... |
ORPHA:1406 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormality of cranial sutures, Long philtrum, Abnormal bone ossification, Short nose, Abnormal f... |
ORPHA:163649 |
| Orofaciodigital Syndrome Type 4 |
|
Retrognathia, Abnormal oral frenulum morphology, Bifid uvula, Abnormality of the ear, Intrauterin... |
ORPHA:2753 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pterygium, Short long bone, Narrow mouth, Bowing of the long bones, Micromelia, Micrognathia, Neo... |
OMIM:224410 |
| Osteogenesis Imperfecta, Type Iii |
|
Slender long bone, Thin ribs, Tibial bowing, Multiple prenatal fractures, Decreased calvarial oss... |
OMIM:259420 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Pectus carinatum, Hypermobili... |
OMIM:613849 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Chronic otitis media, Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Jo... |
ORPHA:534 |
| Radial-Renal Syndrome |
|
Abnormal pinna morphology, Short stature, Chromosome breakage, Absent thumb, Absent radius |
OMIM:179280 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Mixed hearing impairment, Broad distal phalanx of finger, Clinodactyly of the 5th finger, Talipes... |
OMIM:300990 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Long nose, Dental crowding, Long p... |
OMIM:257850 |
| Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Dislocated radial head, Sensorineural hearing impairment, Malrotatio... |
OMIM:122470 |
| Desbuquois Dysplasia 2 |
|
Dental crowding, Pectus carinatum, Short long bone, Flat acetabular roof, Short metacarpal, Pectu... |
OMIM:615777 |
| Hypochondroplasia |
|
Limited elbow extension, Flared metaphysis, Short long bone, Aplasia/hypoplasia of the extremitie... |
OMIM:146000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Short 5th toe, Chromosomal breakage induced by crosslinking agents, Short 2nd toe, Short stature,... |
OMIM:619060 |
| Mucopolysaccharidosis Type 6 |
|
Abnormal metaphysis morphology, Chronic otitis media, Genu valgum, Thick lower lip vermilion, Joi... |
ORPHA:583 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... |
OMIM:616726 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Short nose, Respiratory distress, Pectus carinatum, Delayed cranial suture closure, High palate, ... |
OMIM:619383 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ... |
OMIM:184253 |
| Idiopathic Bronchiectasis |
|
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Clubbing, Dy... |
ORPHA:60033 |
| Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Sclerotic foci within carpal bones, Abnormal femur morphology, Tars... |
ORPHA:166119 |
| Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Rhizomelia, Abnormality of the elbow, Limitation of joint mobility, Abnormal... |
ORPHA:3098 |
| Cornelia De Lange Syndrome |
|
Bilateral single transverse palmar creases, Proximal placement of thumb, Sensorineural hearing im... |
ORPHA:199 |
| 48,Xxyy Syndrome |
|
Chronic otitis media, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Talipes, Recu... |
ORPHA:10 |
| Cohen Syndrome |
|
Abnormal hip bone morphology, Sandal gap, Sensorineural hearing impairment, Pectus excavatum, Too... |
ORPHA:193 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia |
OMIM:188740 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Short thorax, Missing ribs, Abnormal rib morphology, Cleft palate, Posterior rib fusion, Intraute... |
ORPHA:1797 |
| Pentasomy X |
|
Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Camptodactyly of finger, Micro... |
ORPHA:11 |
| Blomstrand Lethal Chondrodysplasia |
|
Broad clavicles, Short ribs, Short metacarpal, Mesomelia, Long philtrum, Abnormal epiphysis morph... |
ORPHA:50945 |
| Achondrogenesis |
|
Short nose, Narrow chest, Short thorax, Abnormality of bone mineral density, Abnormal enchondral ... |
ORPHA:932 |
| Keutel Syndrome |
|
Miscarriage, Sinusitis, Shortening of all distal phalanges of the fingers, Short distal phalanx o... |
OMIM:245150 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Rocker bottom foot, Respiratory distress, Low-set ears, Microretrognathia, Intrauterine growth re... |
ORPHA:89844 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Limitation of joint mobility, Arachnodactyly, Flexion contracture, Hip dislocation |
ORPHA:171719 |
| Meier-Gorlin Syndrome 5 |
|
Slender long bone, Small earlobe, Microtia, Low-set ears, Intrauterine growth retardation, Promin... |
OMIM:613805 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Lower-limb metaphyseal irregularity, Enlarged metaphyses, Short long bone, Upper-limb metaphyseal... |
OMIM:618728 |
| Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Pectus carinatum, Short long ... |
OMIM:271530 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Rocker bottom foot, Dislocated radial head, Arachnodactyly, Syndactyly, Long philtrum, Talipes ca... |
OMIM:265000 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Clubbing, Dy... |
ORPHA:79127 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ... |
OMIM:271640 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Recurrent lower respiratory tract infections, Periodontitis, Hyperextensibility of th... |
OMIM:231070 |
| Osteogenesis Imperfecta, Type Ii |
|
Absent ossification of calvaria, Bell-shaped thorax, Crumpled long bones, Recurrent fractures, Th... |
OMIM:166210 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Genu valgum, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Maxillozygomatic hypop... |
ORPHA:2972 |
| Trichorhinophalangeal Syndrome, Type I |
|
Pectus carinatum, Short metacarpal, Microdontia, Cone-shaped epiphyses of the proximal phalanges ... |
OMIM:190350 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Restricted large joint movement, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Dela... |
ORPHA:93346 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Short mandibular rami, Orofacial cleft, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Abn... |
ORPHA:2549 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Abnormal palate morphology, Thick lower lip vermilion, Cubitus valgus, Short thorax, Abnormal met... |
ORPHA:163654 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Glossoptosis, Micrognathia, Cleft pala... |
OMIM:618356 |
| Roberts-Sc Phocomelia Syndrome |
|
Radial deviation of finger, Abnormal pinna morphology, Severe intrauterine growth retardation, Wr... |
OMIM:268300 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
High, narrow palate, Deep palmar crease, Low-set, posteriorly rotated ears, Plantar flexion contr... |
ORPHA:2872 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal metacarpal morphology, Abnor... |
ORPHA:1837 |
| Acromesomelic Dysplasia 1 |
|
Limited elbow extension, Hypoplasia of the radius, Broad finger, Thoracolumbar kyphosis, Short no... |
OMIM:602875 |
| Familial Nasal Acilia |
|
Atelectasis, Respiratory distress, Dyspnea, Abnormal respiratory motile cilium morphology, Recurr... |
ORPHA:922 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Supernumerary vertebral ossification centers, Slender finger, Hypoplasia of the odontoid process,... |
OMIM:609813 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Short nose, Respiratory distress, High palate, Death in infancy, Congenital contracture, Microgna... |
OMIM:615042 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Stillbirth, Popliteal pterygium, Patellar hypoplasia, Low-set ears, Absent tibia, Bilateral talip... |
OMIM:119800 |
| Fanconi Anemia, Complementation Group D1 |
|
Anal atresia, Short stature, Short thumb, Intrauterine growth retardation, Chromosomal breakage i... |
OMIM:605724 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Narrow greater sciatic notch, Abnormal lung lobation, Retrognathia, Short long bone, Low-set ears... |
OMIM:263210 |
| Yunis-Varon Syndrome |
|
Rocker bottom foot, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal finger ... |
ORPHA:3472 |
| Acromesomelic Dysplasia 4 |
|
Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities... |
OMIM:619636 |
| Autosomal Recessive Amelia |
|
Orofacial cleft, Non-midline cleft of the upper lip, Amelia involving the upper limbs, Amelia, Ac... |
ORPHA:1027 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Glos... |
ORPHA:444077 |
| Zechi-Ceide Syndrome |
|
Thin vermilion border, Long foot, Short metatarsal, Short philtrum, Sandal gap, Abnormal earlobe ... |
ORPHA:217017 |
| Fanconi Anemia |
|
Abnormal femur morphology, Reduced bone mineral density, Meckel diverticulum, Abnormal pinna morp... |
ORPHA:84 |
| Osteogenesis Imperfecta, Type Vii |
|
Crumpled long bones, Pectus excavatum, Death in infancy, Multiple prenatal fractures, Dentinogene... |
OMIM:610682 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Pectus excavatum, Recurrent sinusitis, Joint hypermobility, Craniosynostosis, Overlapping toe, Po... |
OMIM:213980 |
| Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Mandibular prognathia, Micromelia |
ORPHA:2252 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Low-set ear... |
ORPHA:2522 |
| Acute Interstitial Pneumonia |
|
Ground-glass opacification, Atelectasis, Pleural effusion, Parenchymal consolidation, Dyspnea, Br... |
ORPHA:79126 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal ethmoid bone morphology, Long foot, Genu valgum, Delayed pubic bone ossification, Metaph... |
ORPHA:2976 |
| 2Q32Q33 Microdeletion Syndrome |
|
Long philtrum, Thin vermilion border, Clinodactyly of the 5th finger, Dental crowding, Oligodonti... |
ORPHA:251019 |
| Poland Syndrome |
|
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Sprengel anomaly, Syndactyly, ... |
OMIM:173800 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormal metaphysis morphology, Narrow greater sciatic notch, Short iliac bones, Genu valgum, Abn... |
ORPHA:93316 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Abno... |
OMIM:118100 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... |
OMIM:620663 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Long nose, Short philtrum, Hyperextensibility of the finger joints, Dental crowding, High palate,... |
OMIM:309520 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Bifid uvula, Long philtrum, Joint hypermobility, Hip dislocation, Abnormality of the dentition, H... |
OMIM:300968 |
| Hypophosphatasia, Infantile |
|
Stillbirth, Unossified vertebral bodies, Metaphyseal cupping, Short ribs, Abnormality of the dent... |
OMIM:241500 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Bilateral single transverse palmar creases, Aplasia/hypoplasia of the femur, Retrognathia, Broad ... |
ORPHA:2636 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Thrombo... |
OMIM:617243 |
| Ellis-Van Creveld Syndrome |
|
Genu valgum, Talipes equinovarus, Delayed eruption of teeth, Narrow chest, Hypoplastic iliac wing... |
OMIM:225500 |
| Agnathia-Otocephaly Complex |
|
Tracheomalacia, Synotia, Respiratory distress, Narrow mouth, Mandibular aplasia, Low-set ears, Co... |
OMIM:202650 |
| Sheldon-Hall Syndrome |
|
Bilateral single transverse palmar creases, Protruding ear, Tarsal synostosis, Abnormal hip bone ... |
ORPHA:1147 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormal lung lobation, Orofacial cleft, Microtia, Narrow mouth, Aplasia/Hypoplasia involving the... |
ORPHA:3301 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ground-glass opacification, Atelectasis, Respiratory distress, Parenchymal consolidation, Elevate... |
OMIM:610978 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Rickets, Osteopenia, Retrognathia, Joint dislocation, Hiatus hernia, Osteomalacia, Esophagitis, O... |
ORPHA:1901 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Short long bone, Thoracic hypoplasia, Metaphyseal irregularity, Joint hypermobili... |
OMIM:618019 |
| Oculofaciocardiodental Syndrome |
|
Solitary median maxillary central incisor, Sensorineural hearing impairment, Flexion contracture ... |
ORPHA:2712 |
| Fanconi Anemia, Complementation Group B |
|
Esophageal atresia, Abnormality of chromosome stability, Low-set ears, Tracheoesophageal fistula,... |
OMIM:300514 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Abnormal cartilage matrix, Narrow chest, Flared metaphysis, Wide ant... |
ORPHA:2347 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap... |
OMIM:135750 |
| Opsismodysplasia |
|
Short long bone, Flat acetabular roof, Short metacarpal, Hypoplastic ischia, Hypoplastic vertebra... |
OMIM:258480 |
| Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Fibular bowing,... |
ORPHA:3344 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Short nose, Proximal placement of thumb, Esophageal atresia, Respiratory distress, Microtia, Over... |
OMIM:610536 |
| Seckel Syndrome 5 |
|
Retrognathia, Clinodactyly of the 5th finger, 11 pairs of ribs, Oligodontia, Selective tooth agen... |
OMIM:613823 |
| Anauxetic Dysplasia 3 |
|
Retrognathia, Hip subluxation, Genu valgum, Narrow chest, Broad middle phalanx of finger, Metaphy... |
OMIM:618853 |
| Pfeiffer Syndrome Type 3 |
|
Short nose, Short hallux, Finger syndactyly, Tracheomalacia, Stenosis of the external auditory ca... |
ORPHA:93260 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Short nose, Proximal placement of thumb, Narrow chest, Tracheomalacia, Respiratory distress, Abno... |
OMIM:217980 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Joint dislocation, Bon... |
ORPHA:93160 |
| Saethre-Chotzen Syndrome |
|
Bilateral single transverse palmar creases, Sensorineural hearing impairment, Abnormal pinna morp... |
ORPHA:794 |
| Campomelia, Cumming Type |
|
Abnormal intestine morphology, Bowing of the long bones, Abnormal rib morphology, Micromelia, Abn... |
ORPHA:1318 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti... |
OMIM:113000 |
| Occipital Horn Syndrome |
|
Pectus carinatum, Large iliac wing, Pectus excavatum, Absent tibia, Aplasia/hypoplasia of the hum... |
ORPHA:198 |
| Arthrogryposis, Distal, Type 3 |
|
Single transverse palmar crease, Pectus excavatum, Ulnar deviation of the hand or of fingers of t... |
OMIM:114300 |
| Autosomal Recessive Robinow Syndrome |
|
Chronic otitis media, Bilateral single transverse palmar creases, Abnormal hip bone morphology, S... |
ORPHA:1507 |
| Roberts Syndrome |
|
Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,... |
ORPHA:3103 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... |
ORPHA:2633 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Rocker bottom foot, Osteopenia, Respiratory distress, High palate, Pectus excavatum, Congenital h... |
OMIM:271225 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Long nose, 11 pairs of ribs, Bicoronal synostosis, Tracheobronchomalacia, Dental crowding, Short ... |
OMIM:619184 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide nasal bridge, Prominence of the premaxilla, Abnormal cortical bone morphology, Delayed closu... |
OMIM:614886 |
| Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis, Respiratory distress, Dyspnea, Tachypnea |
OMIM:267450 |
| Mosaic Trisomy 8 |
|
Deep plantar creases, Clinodactyly of the 5th finger, Deep palmar crease, Narrow chest, Abnormal ... |
ORPHA:96061 |
| Rubinstein-Taybi Syndrome 2 |
|
Narrow palate, Short 5th toe, Retrognathia, Short first metatarsal, Increased overbite, Prominent... |
OMIM:613684 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Triphalangeal thumb, Low-set, posteriorly rotated ears, Finger syndactyly, Ectopic anus, Microtia... |
ORPHA:2994 |
| Microlissencephaly-Micromelia Syndrome |
|
Bilateral single transverse palmar creases, Short nose, 11 pairs of ribs, Respiratory distress, M... |
ORPHA:50810 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Recurrent otitis media, Short philtrum, High palate, Intrauterine growth retardation, Micrognathi... |
ORPHA:254531 |
| Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Aplasia of the pectoralis major muscle, Abnormality of the wrist, A... |
ORPHA:3138 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal palate morphology, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniof... |
ORPHA:3068 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Enlarged thorax, Limitation of joint mobility, Low-set ears, Camptodactyly of finger, Micrognathi... |
ORPHA:2570 |
| Distal Deletion 10P |
|
Bilateral single transverse palmar creases, Hearing abnormality, Clinodactyly of the 5th finger, ... |
ORPHA:1580 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Ectopic anus, Abnormal rib morphol... |
ORPHA:2345 |
| 6Q25 Microdeletion Syndrome |
|
Rocker bottom foot, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Sensorineu... |
ORPHA:251056 |
| Smith-Magenis Syndrome |
|
Orofacial cleft, Everted upper lip vermilion, Abnormal middle ear morphology, Mandibular prognath... |
OMIM:182290 |
| Abruzzo-Erickson Syndrome |
|
Abnormal palate morphology, Sensorineural hearing impairment, Macrotia, Conductive hearing impair... |
ORPHA:921 |
| Recurrent Respiratory Papillomatosis |
|
Atelectasis, Tracheomalacia, Respiratory distress, Dyspnea, Abnormal lung morphology, Recurrent p... |
ORPHA:60032 |
| Zechi-Ceide Syndrome |
|
Long foot, Short metatarsal, Sandal gap, Stenosis of the external auditory canal, Oligodontia, Cl... |
OMIM:612916 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Short nose, Respiratory distress, Hypodontia, Metacarpophalangeal joint contracture, Sensorineura... |
ORPHA:544503 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Reduced bone mineral density, Delayed eruption of teeth, Decreased fibular diameter, ... |
OMIM:619489 |
| Distal Xq28 Microduplication Syndrome |
|
Absent antihelix, Thick lower lip vermilion, Dental crowding, Short lingual frenulum, Microtia, H... |
ORPHA:293939 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Sensorineural hearing impairment, Enlarged epiphyses, Epiphyseal dysplasia, Cleft palate, Pierre-... |
OMIM:184840 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Abnormal palate morphology, Abnormal metacarpal morphology, Hypoplasia of the maxilla, Conductive... |
ORPHA:93262 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal lung lobation, Bilateral single transverse palmar creases, High, narrow palate, Joint st... |
ORPHA:2516 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Thick lower lip vermilion, Flexion contracture of toe, Recurrent otitis media, Clubbing of finger... |
OMIM:256040 |
| 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 |
| Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Atelectasis, Nasal flaring, Respiratory tract infection, Pneumonia, Tachypnea, A... |
ORPHA:70587 |
| Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r... |
ORPHA:93314 |
| Microtriplication 11Q24.1 |
|
Genu valgum, Clinodactyly of the 5th finger, Short philtrum, Joint dislocation, Attached earlobe,... |
ORPHA:289522 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Dislocated radial head, Mandibular condyle hypoplasia, Deformed humerus, Micrognathia, Hypoplasia... |
ORPHA:2975 |
| Immunodeficiency 95 |
|
Ground-glass opacification, Respiratory distress, Recurrent viral upper respiratory tract infecti... |
OMIM:619773 |
| Shwachman-Diamond Syndrome 1 |
|
Narrow greater sciatic notch, Steatorrhea, Enlargement of the costochondral junction, Metaphyseal... |
OMIM:260400 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
| Fanconi Anemia, Complementation Group U |
|
Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metacarpal, Growth delay, Chromosom... |
OMIM:617247 |
| Neu-Laxova Syndrome |
|
Retrognathia, Everted lower lip vermilion, Bifid uvula, Intrauterine growth retardation, Rickets,... |
ORPHA:2671 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... |
ORPHA:1275 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Epi... |
OMIM:101800 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Narrow greater sciatic notch, Short finger, Recurrent otitis media, Rhizomelia, Flared metaphysis... |
OMIM:608940 |
| Schinzel-Giedion Syndrome |
|
Stiff elbow, Retrognathia, Broad alveolar ridges, Tibial bowing, Wide mouth, Short distal phalanx... |
ORPHA:798 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Rhizomelia, Epiphyseal stippling, Flared metaphysis, Sensorineural hearing impairment, Calcific s... |
OMIM:215100 |
| Cat-Eye Syndrome |
|
Anal atresia, Abnormal rib morphology, Hearing impairment, Hip dysplasia, Intrauterine growth ret... |
ORPHA:195 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Barrel-shaped chest, Slender long bone, Femoral retroversion, Thin ribs, Tibial bowin... |
OMIM:610915 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Short ri... |
OMIM:617866 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Femoral bowing, Short ribs, Short long... |
OMIM:615503 |
| Bone Marrow Failure Syndrome 3 |
|
Amelogenesis imperfecta, Reduced bone mineral density, Oral ulcer, Microdontia, Congenital hip di... |
OMIM:617052 |
| Meconium Aspiration Syndrome |
|
Pneumothorax, Transient pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Atele... |
ORPHA:70588 |
| Autosomal Recessive Stickler Syndrome |
|
Genu valgum, Sensorineural hearing impairment, Abnormal epiphysis morphology, Epiphyseal dysplasi... |
ORPHA:250984 |
| Marshall Syndrome |
|
Small proximal tibial epiphyses, Sensorineural hearing impairment, Bifid uvula, Irregular femoral... |
OMIM:154780 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Abnormal cortical bone morphology, Upper limb undergrowth, Wormian bones, Limitation of joint mob... |
ORPHA:166277 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Limited elbow extension, Retrognathia, Radial deviation of finger, Elbow flexion contracture, Hig... |
OMIM:272430 |
| Marshall Syndrome |
|
Short nose, Genu valgum, Thick lower lip vermilion, Sensorineural hearing impairment, High palate... |
ORPHA:560 |
| Sclerosteosis 1 |
|
Tooth malposition, Broad clavicles, Mandibular prognathia, Abnormal pelvic girdle bone morphology... |
OMIM:269500 |
| Garg-Mishra Progeroid Syndrome |
|
Narrow chest, Slender long bone, Dental crowding, Thin ribs, Persistent open anterior fontanelle,... |
OMIM:620601 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Increased arm span, Abnormal bone ossification, Long foot, Thin metacarpal cortices, ... |
ORPHA:2463 |
| Raine Syndrome |
|
Mixed hearing impairment, Subperiosteal bone formation, Abnormal pinna morphology, Pectus excavat... |
OMIM:259775 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... |
OMIM:300554 |
| Stickler Syndrome, Type Ii |
|
High, narrow palate, Sensorineural hearing impairment, Arthropathy, Tympanic membrane hypermobili... |
OMIM:604841 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Long foot, Narrow chest, Pectus carinatum, Mandibular prognathia, High palate, Pectus excavatum, ... |
OMIM:300676 |
| Kbg Syndrome |
|
Widely-spaced maxillary central incisors, Finger clinodactyly, Single transverse palmar crease, O... |
ORPHA:2332 |
| Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress, Death in infancy |
OMIM:254120 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Tooth malpo... |
OMIM:156400 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short nose, Low-set ears, Hearing impairment, Hypoplasia of the maxilla, Cleft palate, Brachydact... |
OMIM:614261 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Ground-glass opacification, Respiratory distress, Intraalveolar phospholipid accumulation, Nonspe... |
OMIM:610913 |
| Schwartz-Jampel Syndrome |
|
Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Abnormally ossified vert... |
ORPHA:800 |
| Charge Syndrome |
|
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Absent tibia, Tracheoesopha... |
OMIM:214800 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Lateral clavicle hook, Orofacial cleft, Genu valgum, Bell-shaped thorax, Cone-shaped epiphyses of... |
OMIM:615630 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Microtia, Stenosis of the external auditory canal, Glossoptosis, Everted lower l... |
OMIM:616367 |
| Weill-Marchesani Syndrome 1 |
|
Narrow palate, Broad phalanges of the hand, Tooth malposition, Broad metacarpals, Broad metatarsa... |
OMIM:277600 |
| Mosaic Trisomy 16 |
|
Meckel diverticulum, Single transverse palmar crease, Intrauterine growth retardation, Abnormal e... |
ORPHA:1708 |
| Bronchogenic Cyst |
|
Bronchogenic cyst, Abnormal stomach morphology, Abnormal pulmonary thoracic imaging finding, Atel... |
ORPHA:2357 |
| Split hand/foot malformation 1 (SHFM1) |
|
Sensorineural hearing impairment, 2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger sy... |
DECIPHER:46 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Abnormal sternum morphology, Pectus excavatum, Symphalangism affecting the phalanges of the hand,... |
ORPHA:2990 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Short thorax, Abnormal rib morphology, Anom... |
ORPHA:2311 |
| Spastic Paraplegia 16, X-Linked |
|
Short distal phalanx of finger, Hypoplasia of the maxilla |
OMIM:300266 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Death in childhood, Flexion contracture of toe, Short philtrum, Flared metaph... |
OMIM:610758 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Retrognathia, High, narrow palate, Short nose, Widely patent coronal suture, Midgut m... |
ORPHA:2409 |
| Restrictive Dermopathy 2 |
|
Rectal prolapse, Respiratory distress, Short clavicles, Overtubulated long bones, Hypoplastic fac... |
OMIM:619793 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Thin vermilion border, Long foot, High, narrow palate, Retrognathia, Short philtrum, Respiratory ... |
ORPHA:2707 |
| Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Microtia, Low-set ears, Tracheoesophageal fistula, Bilateral talipes equinova... |
OMIM:614083 |
| Oculocerebrocutaneous Syndrome |
|
Tessier cleft, Orofacial cleft, Talipes, Finger syndactyly, Abnormal pinna morphology, Abnormal r... |
ORPHA:1647 |
| Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Diastema |
OMIM:179250 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Palmoplantar cutis gyrata, Dislocated radial head, Pectus carinatum, Arachnodactyly, Bifid uvula,... |
OMIM:130070 |
| Thoracolaryngopelvic Dysplasia |
|
Bell-shaped thorax, Hypoplastic iliac wing, Short ribs, Irregular chondrocostal junctions, Hypopl... |
OMIM:187760 |
| Cleft Lip/Palate |
|
Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Palate fistula, Bila... |
ORPHA:199306 |
| Meier-Gorlin Syndrome 6 |
|
Short nose, Emphysema, Sandal gap, Tracheobronchomalacia, Microtia, Stenosis of the external audi... |
OMIM:616835 |
| Abruzzo-Erickson Syndrome |
|
Short stature, Macrotia, Hearing impairment, Cleft palate, Radioulnar synostosis, Protruding ear |
OMIM:302905 |
| Nablus Mask-Like Facial Syndrome |
|
Retrognathia, Sandal gap, Small earlobe, Everted lower lip vermilion, Long philtrum, Craniosynost... |
OMIM:608156 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Mixed hearing impairment, Dental crowding, Sensorineural hearing impairment, Broad thumb, Mesomel... |
OMIM:616331 |
| Fetal Akinesia Deformation Sequence 1 |
|
Rocker bottom foot, Wrist flexion contracture, Thoracic hypoplasia, Long philtrum, Intrauterine g... |
OMIM:208150 |
| Urban-Rogers-Meyer Syndrome |
|
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Aplasi... |
ORPHA:3409 |
| Rapadilino Syndrome |
|
High, narrow palate, Joint dislocation, Aplasia/Hypoplasia of the patella, High palate, Hearing i... |
OMIM:266280 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Short nose, Dental malocclusion, Respiratory distress, High palate, Micrognathia, Rec... |
ORPHA:329178 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Multiple joint dislocation, Sandal gap, Enlarged metaphyses, Dislocated radial head, Pectus carin... |
OMIM:245600 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Microtia, Intestinal malrotation, Wide mouth, Joint hypermobility, Short femur, Duod... |
OMIM:617798 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Rectovaginal fistula, Oligodactyly, Perineal fistula, Ectrodactyly, Ana... |
ORPHA:3016 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Mixed hearing impairment, Limitation of knee mobility, Dislocated radial ... |
ORPHA:1826 |
| Hydrolethalus Syndrome 1 |
|
Abnormal lung lobation, Stillbirth, Upper limb undergrowth, Abnormal pinna morphology, Postaxial ... |
OMIM:236680 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Bilateral sensorineural hearing impairment... |
OMIM:605282 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the upper limbs, Microtia, Abnormality of the calcaneus, Hi... |
ORPHA:40366 |
| Dysspondyloenchondromatosis |
|
Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Joint dislocation,... |
ORPHA:85198 |
| Temple Syndrome |
|
Recurrent otitis media, Short philtrum, High palate, Intrauterine growth retardation, Clinodactyl... |
OMIM:616222 |
| Tetraploidy |
|
Radial club hand, Short philtrum, Micrognathia, Cleft palate, Hypoplasia of the ear cartilage, In... |
ORPHA:3305 |
| Ciliary Dyskinesia, Primary, 1 |
|
Chronic otitis media, Absent outer dynein arms, Atelectasis, Absent frontal sinuses, Recurrent br... |
OMIM:244400 |
| Weill-Marchesani Syndrome 2 |
|
Narrow palate, Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the... |
OMIM:608328 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Narrow palate, Atelectasis, Hammertoe, Tracheomalacia, Mandibular prognathia, Pulmonary artery at... |
OMIM:620371 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Clubbing, Pleural effusion, ... |
OMIM:612387 |
| Stickler Syndrome |
|
Chronic otitis media, Reduced bone mineral density, Sensorineural hearing impairment, Pectus cari... |
ORPHA:828 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Abnormal finger morphology, Microtia, Hip dysplasia, Wrist flexion contractu... |
ORPHA:436003 |
| Alfadhel Syndrome |
|
Thin vermilion border, Retrognathia, Short philtrum, Low-set ears, Nasal flaring, Smooth philtrum... |
OMIM:620655 |
| Myhre Syndrome |
|
Radial deviation of finger, Hypoplastic iliac wing, Microtia, Short long bone, Joint stiffness, I... |
OMIM:139210 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... |
ORPHA:3216 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Wrist swelling, Generalized osteoporosis, Broad femoral neck, Abnormality of hand joint mobility,... |
ORPHA:1159 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Anterior bowing of long ... |
OMIM:255800 |
| Skraban-Deardorff Syndrome |
|
Pes cavus, Absent cupid's bow, Widely spaced teeth, Recurrent otitis media, Micrognathia, Cleft p... |
OMIM:617616 |
| Ellis Van Creveld Syndrome |
|
Microdontia, Abnormal oral frenulum morphology, Short distal phalanx of finger, Intrauterine grow... |
ORPHA:289 |
| Fanconi Anemia, Complementation Group Q |
|
Esophageal atresia, Low-set ears, Growth delay, Short stature, Chromosome breakage, Absent thumb,... |
OMIM:615272 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Narrow greater sciatic notch, Carpal bone hypoplasia, Abnormal foot morphology, Flared metaphysis... |
OMIM:184252 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Narrow greater sciatic notch, Thin vermilion border, Bell-shaped thorax, Flared metaphysis, Delay... |
OMIM:602557 |
| Al-Gazali Syndrome |
|
Osteopenia, Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Wrist... |
OMIM:609465 |
| Kniest Dysplasia |
|
Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Dumbbell-shaped... |
ORPHA:485 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Arachnodactyly, Emphysema, Hip dislocation |
OMIM:614100 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Limitation of joint mobility, Respiratory distress |
ORPHA:2680 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Death in childhood, Respiratory distress, Pectus carinatum, Clubbing, Pectus excavatum, Flared il... |
OMIM:617303 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Abnormal metaphysis morphology, Retrognathia, Osteopetrosis, High, narrow palate, Asymmetry of th... |
ORPHA:2780 |
| Osteogenesis Imperfecta, Type Xiii |
|
Long philtrum, Thin vermilion border, Reduced bone mineral density, Limitation of knee mobility, ... |
OMIM:614856 |
| Distal Duplication 18Q |
|
Bilateral single transverse palmar creases, Short nose, Clinodactyly of the 5th finger, Low-set, ... |
ORPHA:1716 |
| Mosaic Trisomy 1 |
|
Rocker bottom foot, Broad 2nd toe, Abnormal pinna morphology, Arachnodactyly, Wide mouth, Long to... |
ORPHA:1692 |
| Acrofacial Dysostosis, Catania Type |
|
Spina bifida occulta, Single transverse palmar crease, Short stature, Carious teeth, Short palm, ... |
OMIM:101805 |
| Braddock Syndrome |
|
Pectus excavatum, Missing ribs, Intrauterine growth retardation, Micrognathia, Posteriorly rotate... |
ORPHA:52047 |
| Prader-Willi Syndrome Due To Translocation |
|
Retrognathia, Everted lower lip vermilion, Bifid uvula, Wide mouth, Intrauterine growth retardati... |
ORPHA:177907 |
| Joubert Syndrome 18 |
|
Retrognathia, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Cleft palate, Lobul... |
OMIM:614815 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly |
OMIM:225300 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Popliteal pterygium, Finger syndactyly, Non-midline cleft of the upper lip, Split hand, Abnormal ... |
ORPHA:1300 |
| Synaptic Congenital Myasthenic Syndromes |
|
Hypoventilation, Exertional dyspnea, Recurrent lower respiratory tract infections, Triangular mou... |
ORPHA:98915 |
| Trisomy 1Q |
|
Long foot, Short thorax, Narrow mouth, Low-set ears, Abnormal rib morphology, Anal atresia, Arach... |
ORPHA:261344 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Reduced bone mineral density, Hypophosphatemic rickets, Osteomalacia, Rachitic rosary, Pathologic... |
ORPHA:157215 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Periostitis, Osteopenia, Osteolysis, Fused cervical vertebrae, Respiratory distress, Stomatitis, ... |
OMIM:612852 |
| Stüve-Wiedemann Syndrome |
|
Flexion contracture of finger, Intrauterine growth retardation, Elbow flexion contracture, Abnorm... |
ORPHA:3206 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Thin vermilion border, Short philtrum, Respiratory distress, Macrotia, Micrognathia, Intrauterine... |
ORPHA:261304 |
| Achondroplasia |
|
Limited elbow extension, Narrow greater sciatic notch, Short proximal phalanx of finger, Rhizomel... |
ORPHA:15 |
| Zttk Syndrome |
|
Bifid uvula, Cervical ribs, Joint hypermobility, Craniosynostosis, Intrauterine growth retardatio... |
OMIM:617140 |
| Acrootoocular Syndrome |
|
Abnormal earlobe morphology, Sandal gap, Sensorineural hearing impairment, Short metacarpal, Smal... |
ORPHA:2980 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Recurrent otitis media, Short philtrum, High palate, Narrow mouth, Intrauterine growth retardatio... |
ORPHA:96184 |
| Pleural Mesothelioma |
|
Respiratory distress, Pleural effusion, Dyspnea, Abnormal lung morphology, Abnormal pleura morpho... |
ORPHA:50251 |
| Coffin-Siris Syndrome 6 |
|
Retrognathia, High, narrow palate, Short philtrum, Low-set ears, Pectus excavatum, Conductive hea... |
OMIM:617808 |
| Auriculocondylar Syndrome |
|
Aplasia/Hypoplasia of the external ear, Cleft helix, Abnormality of the temporomandibular joint, ... |
ORPHA:137888 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Metopic depression, Bell-shaped thorax, Short clavicles, Abnormality of the lower lim... |
ORPHA:313855 |
| Limb-Mammary Syndrome |
|
Protruding ear, Cleft hard palate, Clinodactyly of the 5th finger, Hypodontia, Oligodactyly, Bifi... |
ORPHA:69085 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... |
ORPHA:93356 |
| Axial Mesodermal Dysplasia Spectrum |
|
Gingival overgrowth, Abnormal intestine morphology, Microtia, Abnormal pelvic girdle bone morphol... |
ORPHA:1834 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Mixed hearing impairment, Sensorineural hearing impairment, Pectus carinatum, Short metacarpal, T... |
OMIM:272460 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormal rib morphology, Conductive hearing impairment, Cleft upper lip, Micrognathia, Cleft pala... |
OMIM:601076 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Micrognathia, Respiratory distress |
OMIM:300580 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Elbow flexion contracture, Calcaneovalgus deformity, Camptodactyly, Congenital ... |
OMIM:616266 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Stillbirth, Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, ... |
OMIM:236500 |
| Chand Syndrome |
|
Atelectasis, Agenesis of maxillary incisor, Short fifth metatarsal, Abnormal oral frenulum morpho... |
ORPHA:1401 |
| Arterial Tortuosity Syndrome |
|
Rocker bottom foot, Arachnodactyly, Joint hypermobility, Craniosynostosis, Coxa valga, Hip disloc... |
ORPHA:3342 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Pectus excavatum, 2-4 toe s... |
OMIM:150230 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Short philtrum, Ectopic anus, Mandibular ... |
ORPHA:94066 |
| Becker Nevus Syndrome |
|
Abnormal tibia morphology, Pectus carinatum, Pectus excavatum, Lower limb asymmetry, Micromelia, ... |
ORPHA:64755 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Long philtrum, Supernumerary tooth, Protruding ear, Clinodactyly of the 5th finger, Short metatar... |
ORPHA:77258 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Delayed eruption of teeth... |
ORPHA:289176 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Narrow mouth, Death in infancy, Short stature, Arachnodactyly, Micrognathia, Cleft palate, Malar ... |
ORPHA:93946 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Narrow chest, Delaye... |
ORPHA:667 |
| Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Orofacial cleft, Triphalangeal thumb, Non-midline cleft of the upper lip, ... |
OMIM:141400 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla |
OMIM:618383 |
| 48,Xxxy Syndrome |
|
Chronic otitis media, Taurodontia, Clinodactyly of the 5th finger, Recurrent respiratory infectio... |
ORPHA:96263 |
| Pyknoachondrogenesis |
|
Short iliac bones, Craniofacial hyperostosis, Abnormality of mouth shape, Abnormal iliac wing mor... |
ORPHA:3003 |
| Bent Bone Dysplasia Syndrome 1 |
|
Bell-shaped thorax, Hypoplastic pubic bone, Short clavicles, Gingival overgrowth, Low-set ears, C... |
OMIM:614592 |
| Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Anal atresia, Growth delay, Absent thumb, Agenesis of permanent teeth, Chromoso... |
OMIM:617244 |
| Wiedemann-Rautenstrauch Syndrome |
|
Retrognathia, Severe intrauterine growth retardation, Short humerus, Hypoplastic vertebral bodies... |
ORPHA:3455 |
| Fragile X Syndrome |
|
Chronic otitis media, Folate-dependent fragile site at Xq28, Mandibular prognathia, Sinusitis, Ma... |
ORPHA:908 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow chest, Rhizomelic arm shortening, Short metacarpal, Abnormal rib morphology, Iliac crest s... |
ORPHA:93317 |
| Auriculocondylar Syndrome 1 |
|
Dental malocclusion, Anterior open-bite malocclusion, Mandibular condyle hypoplasia, Dental crowd... |
OMIM:602483 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Abnormal lung lobation, Orofacial cleft, Talipes, Low-set, posteriorly rotated ears, Postaxial ha... |
ORPHA:2166 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Protruding ear, Abnormal hip bone morphology, Abnormal lower lip morphology, Tooth agenesis, Join... |
ORPHA:1166 |
| Osteogenesis Imperfecta |
|
Intestinal obstruction, Mixed hearing impairment, Abnormal femur morphology, Reduced bone mineral... |
ORPHA:666 |
| 22Q11.2 Deletion Syndrome |
|
Chronic otitis media, Small earlobe, Multiple suture craniosynostosis, Intestinal malrotation, Ar... |
ORPHA:567 |
| Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Recurrent respiratory infections, Atelectasis |
OMIM:615872 |
| Gm1 Gangliosidosis Type 1 |
|
Long philtrum, Spatulate ribs, Broad long bone diaphyses, Gingival overgrowth, Short long bone, L... |
ORPHA:79255 |
| Acromelic Frontonasal Dysostosis |
|
U-Shaped upper lip vermilion, Patellar hypoplasia, Midline facial cleft, Low-set ears, Cleft uppe... |
OMIM:603671 |
| Trisomy 8Q |
|
Orofacial cleft, Deep palmar crease, Low-set, posteriorly rotated ears, Bone cyst, Non-midline cl... |
ORPHA:1752 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Pectus carinatum, Intestinal malrotation, Syndactyly, Enamel agenesis, Long philtrum, Cleft palat... |
OMIM:614701 |
| Cantú Syndrome |
|
Abnormal metaphysis morphology, Deep plantar creases, Long philtrum, Narrow chest, Short hallux, ... |
ORPHA:1517 |
| Severe Congenital Nemaline Myopathy |
|
Thin ribs, Low-set ears, Multiple prenatal fractures, Pulmonary hypoplasia, Flexion contracture, ... |
ORPHA:171430 |
| Gaucher Disease, Perinatal Lethal |
|
Retrognathia, Everted upper lip vermilion, Short nose, Respiratory distress, Microtia, Narrow mou... |
OMIM:608013 |
| Andersen-Tawil Syndrome |
|
Clinodactyly of the 5th toe, Abnormality of dental color, Dental crowding, 2-3 toe syndactyly, Ol... |
ORPHA:37553 |
| Apert Syndrome |
|
Narrow palate, Esophageal atresia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Delayed er... |
ORPHA:87 |
| Ivic Syndrome |
|
Hypoplasia of the radius, Triphalangeal thumb, Rectovaginal fistula, Synostosis of carpal bones, ... |
ORPHA:2307 |
| Prune Belly Syndrome |
|
Intestinal atresia, Talipes equinovarus, Pectus excavatum, Abnormal rib morphology, Congenital hi... |
ORPHA:2970 |
| 7Q31 Microdeletion Syndrome |
|
Childhood onset sensorineural hearing impairment, Clinodactyly of the 2nd finger, Prominent finge... |
ORPHA:251061 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Rocker bottom foot, Equinovarus deformity, Short nose, Triphalangeal thumb, Abnormal pinna morpho... |
ORPHA:3078 |
| Acropectorovertebral Dysplasia |
|
High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car... |
ORPHA:957 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypersensitivity pneumonitis, Abnormal pulmonary thoracic imaging finding, Atelectasis, Pleural e... |
ORPHA:2902 |
| Doors Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Abnormal finger morpho... |
ORPHA:79500 |
| Marden-Walker Syndrome |
|
High, narrow palate, Abnormal sternum morphology, High palate, Narrow mouth, Camptodactyly, Conge... |
OMIM:248700 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Death in childhood, Respiratory distress, Chylothorax, Mandibular prognathia, High palate, Death ... |
OMIM:620278 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles |
OMIM:264270 |
| Choanal Atresia |
|
Polydactyly, Tracheomalacia, Respiratory distress, Craniosynostosis, Recurrent respiratory infect... |
ORPHA:137914 |
| Fanconi Anemia, Complementation Group P |
|
Hypoplasia of the radius, Short stature, Growth delay, Micrognathia, Hearing impairment, Absent t... |
OMIM:613951 |
| Weismann-Netter Syndrome |
|
Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Squared i... |
OMIM:112350 |
| Oculomaxillofacial Dysostosis |
|
Tessier cleft, Abnormality of the dentition, Abnormality of the humerus, Camptodactyly of finger,... |
ORPHA:1794 |
| Microphthalmia, Syndromic 12 |
|
Retrognathia, Intestinal malrotation, Micrognathia, Cleft palate, Pulmonary hypoplasia, Neonatal ... |
OMIM:615524 |
| Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... |
ORPHA:50815 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Sensorineural hearing impairment, Short long bone, Metaphyseal irregularity, Long philtrum, Joint... |
OMIM:616007 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Supernumerary tooth, Aplasia of the epiglottis, Narrow chest, Respiratory distress, Short clavicl... |
OMIM:617088 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Long nose, Low-set ears, Abnormal rib morphology, Macrotia, Short distal ... |
OMIM:118450 |
| Radial Ray Hypoplasia With Choanal Atresia |
|
Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence |
OMIM:179270 |
| Glutamine Deficiency, Congenital |
|
Thin vermilion border, Short nose, Low-set ears, Camptodactyly, Micromelia, Neonatal death, Apnea... |
OMIM:610015 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Metacarpal osteolysis, Wrist swelling, Abnormality of the wrist, Carpal osteolysis, Slender long ... |
ORPHA:2774 |
| Laron Syndrome |
|
Short long bone, Limb undergrowth, Abnormal joint morphology |
OMIM:262500 |
| Trisomy 8P |
|
Clinodactyly of the 5th toe, Retrognathia, Abnormal middle ear morphology, Clinodactyly of the 2n... |
ORPHA:264450 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal foot morphology, Abnormal metacarpal morphology, Oligodontia, Abnormality of the dentiti... |
ORPHA:2095 |
| Poland Syndrome |
|
Aplasia of the pectoralis major muscle, Reduced bone mineral density, Asymmetry of the thorax, Ab... |
ORPHA:2911 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Narrow palate, Retrognathia, Abnormal foot morphology, 2-3 toe syndactyly, Gingival overgrowth, H... |
OMIM:618186 |
| Congenital Syphilis |
|
Periostitis, Osteochondrosis, Tibial bowing, Notched primary central incisor, High palate, Synovi... |
ORPHA:499009 |
| Basal Cell Nevus Syndrome 1 |
|
Polydactyly, Short 4th metacarpal, Plantar pits, Palmar pits, Odontogenic keratocysts of the jaw,... |
OMIM:109400 |
| Hallermann-Streiff Syndrome |
|
Everted lower lip vermilion, Pectus excavatum, Joint hypermobility, Decreased number of sternal o... |
OMIM:234100 |
| Arboleda-Tham Syndrome |
|
Chronic otitis media, Sandal gap, Small earlobe, Underdeveloped tragus, Pectus excavatum, Intesti... |
OMIM:616268 |
| 49,Xxxxy Syndrome |
|
Chronic otitis media, Taurodontia, Clinodactyly of the 5th finger, Recurrent respiratory infectio... |
ORPHA:96264 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Retrognathia, Single transverse palmar crease, Exaggerated cupid's bow, Prominent sternum, Wrist ... |
ORPHA:254528 |
| Primary Pulmonary Hypoplasia |
|
Pneumothorax, Patellar hypoplasia, Low-set ears, Tachypnea, Micrognathia, Cleft palate, Pulmonary... |
ORPHA:2257 |
| Congenital Myopathy 17 |
|
Overlapping fingers, Dental malocclusion, Narrow chest, Narrow jaw, Mandibular prognathia, High p... |
OMIM:618975 |
| Wolf-Hirschhorn Syndrome |
|
Chronic otitis media, Hypoplastic pubic ramus, Microtia, Arachnodactyly, Intrauterine growth reta... |
ORPHA:280 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Lambdoidal craniosynostosis, Thin ribs, Narrow iliac wing, High palate, Pectus excava... |
OMIM:616294 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Mixed hearing impairment, Microtia, Microdontia, Bilateral triphalangeal thumbs, Absent radius, D... |
OMIM:149730 |
| C Syndrome |
|
Radial deviation of finger, Dislocated radial head, Short metacarpal, Wide mouth, Accessory oral ... |
OMIM:211750 |
| Cerebrofacioarticular Syndrome |
|
Osteopenia, Caudal appendage, Anal stenosis, Tracheomalacia, Microtia, Narrow mouth, Camptodactyl... |
ORPHA:314679 |
| Ataxia-Telangiectasia |
|
Aplasia/Hypoplasia of the thymus, Abnormality of chromosome stability, Lymphopenia |
ORPHA:100 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Short nose, Sandal gap, Triangular mouth, Cleft soft palate, Gingival overgrowth, Prominent finge... |
OMIM:618529 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormal hip bone morphology, Dental crowding, Tibial bowing, Microdontia, Broad thumb, Prominent... |
ORPHA:251028 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Retrognathia, Short nose, Meckel diverticulum, Low-set ears, Micrognathia, Supernumerary ribs, Po... |
ORPHA:163961 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Abnormal diaphysis morphology, Abnormality of the elbow, Limitation... |
ORPHA:93473 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Retrognathia, Long clavicles, Fused cervical vertebrae, Respiratory distress, Single transverse p... |
ORPHA:83617 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Darwin tubercle of helix, Scapular winging, Unilateral cleft palate, Pectus excavatum, Submucous ... |
OMIM:619122 |
| Recombinant 8 Syndrome |
|
Chronic otitis media, Deep plantar creases, Bilateral single transverse palmar creases, Abnormal ... |
ORPHA:96167 |
| Mucopolysaccharidosis, Type Vii |
|
Narrow greater sciatic notch, Sensorineural hearing impairment, Pectus carinatum, Large iliac win... |
OMIM:253220 |
| Dent Disease 1 |
|
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement ... |
OMIM:300009 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os... |
ORPHA:93284 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal bone ossification, Reduced bone mineral density, Hypoplastic iliac wing, Small earlobe, ... |
ORPHA:93315 |
| Mucolipidosis Iii Alpha/Beta |
|
Carpal bone hypoplasia, Mandibular prognathia, Short ribs, Split hand, Limitation of joint mobili... |
OMIM:252600 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnorm... |
ORPHA:2519 |
| Say Syndrome |
|
Ulnar deviation of the 3rd finger, Short stature, Macrotia, Micrognathia, Cleft palate, Short dis... |
OMIM:181180 |
| Larsen-Like Syndrome |
|
Recurrent otitis media, Clinodactyly of the 5th finger, Joint dislocation, Low-set ears, Radial d... |
OMIM:608545 |
| Coloboma Of Macula And Skeletal Anomalies |
|
Genu valgum, Contracture of the distal interphalangeal joint of the 5th finger, Recurrent patella... |
OMIM:216800 |
| Fanconi Anemia, Complementation Group F |
|
Hypoplasia of the radius, Chromosomal breakage induced by crosslinking agents, Microtia, Short st... |
OMIM:603467 |
| Branchiogenic-Deafness Syndrome |
|
Mixed hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear ossicle... |
OMIM:609166 |
| Contractural Arachnodactyly, Congenital |
|
Pectus carinatum, Wrist flexion contracture, Congenital finger flexion contractures, Limited knee... |
OMIM:121050 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Retrognathia, Abnormal pinna morphology, Abnormal rib morphology, Broad femoral neck,... |
ORPHA:488434 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Rhizomelic leg shortening, Short ribs, Abnormal 5th metacarpal morphology, Recurrent aspiration p... |
ORPHA:397715 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Metaphyseal spurs, Short long bone, ... |
ORPHA:85167 |
| Fanconi Anemia, Complementation Group I |
|
Hypoplasia of the radius, Short stature, Conductive hearing impairment, Absent thumb, Short thumb... |
OMIM:609053 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Short thorax, Short long bone, Death in infancy, Talipes equinovarus, Vertebral fusion |
OMIM:618845 |
| Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Non-midline cleft of the upper lip, Abnorma... |
ORPHA:887 |
| Genitopatellar Syndrome |
|
Knee flexion contracture, Delayed eruption of teeth, Low-set ears, Hypoplastic ilia, Hypoplastic ... |
ORPHA:85201 |
| 3P25.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Sensorineural hearing impairment, Broad thumb, Overlapping toe, Shor... |
ORPHA:435638 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Chronic otitis media, Bilateral single transverse palmar creases, Protruding ear, Widely spaced t... |
ORPHA:261279 |
| Glass Syndrome |
|
Long nose, Dental crowding, Generalized osteoporosis, Arachnodactyly, Long philtrum, Anterior tib... |
OMIM:612313 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Delayed eruption of teeth, Wide anterior fontanel, High palate, E... |
OMIM:619736 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoplasia of the maxilla,... |
OMIM:109120 |
| Interstitial Lung Disease 2 |
|
Exertional dyspnea, Clubbing of fingers, Dyspnea, Elevated bronchoalveolar lavage fluid neutrophi... |
OMIM:178500 |
| Bloom Syndrome |
|
Postnatal growth retardation, Protruding ear, Clinodactyly of the 5th finger, Abnormality of chro... |
OMIM:210900 |
| Fanconi Renotubular Syndrome 5 |
|
Genu valgum, Emphysema, Hypophosphatemic rickets, Lung adenocarcinoma, Pulmonary fibrosis |
OMIM:618913 |
| Stickler Syndrome, Type I |
|
Abnormal femoral epiphysis morphology, Arthritis, Sensorineural hearing impairment, Arthropathy, ... |
OMIM:108300 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Cupped ear, Sandal gap, Respiratory distress, Prominent fingertip pads, High... |
OMIM:612863 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Sensorineural hearing impairment, Broad clavicles, Syndactyly, Joint hypermobility, Intrauterine ... |
OMIM:151050 |
| Tracheobronchopathia Osteochondroplastica |
|
Exertional dyspnea, Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurre... |
ORPHA:3348 |
| Nail-Patella Syndrome |
|
Sensorineural hearing impairment, Pectus excavatum, Patellar dislocation, Disproportionate promin... |
OMIM:161200 |
| Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Joint hypermobility, Dental crowding, Open bite, Hyperplasia of the maxilla |
OMIM:613671 |
| Sponastrime Dysplasia |
|
Short long bone, Short dental root, Microdontia, Mesomelia, Metaphyseal irregularity, Joint hyper... |
ORPHA:93357 |
| Grant Syndrome |
|
Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Recurrent otitis media, Rhizomelia, Narrow chest, Respiratory distress, Tibial bowing, Femoral bo... |
OMIM:616482 |
| Mucopolysaccharidosis, Type Vi |
|
Hypoplastic iliac wing, Pectus carinatum, Flared iliac wing, Joint stiffness, Metaphyseal irregul... |
OMIM:253200 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo... |
ORPHA:536471 |
| Interstitial Lung Disease 1 |
|
Ground-glass opacification, Clubbing, Nonspecific interstitial pneumonia, Intralobular septal thi... |
OMIM:619611 |
| Hartsfield Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Non-midline cleft of the upper lip, Split hand,... |
ORPHA:2117 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Clinodactyly of the 5th finger, Abnormal pinna morphology, Hypoplasia of the maxilla, Posteriorly... |
ORPHA:228396 |
| Loeys-Dietz Syndrome 4 |
|
Pneumothorax, Retrognathia, High, narrow palate, Emphysema, Abnormal sternum morphology, High pal... |
OMIM:614816 |
| 3C Syndrome |
|
Orofacial cleft, High, narrow palate, Short nose, Abnormal hip bone morphology, Finger syndactyly... |
ORPHA:7 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Sensorineural hearing impairment, Achilles tendon contracture, Hyporeflexia... |
ORPHA:2596 |
| Neonatal Marfan Syndrome |
|
Increased arm span, High, narrow palate, Emphysema, Talipes calcaneovarus, Pectus carinatum, Enla... |
ORPHA:284979 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Microtia, Low-set ears, Hearing impairment, Atresia of the external auditor... |
OMIM:613309 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Pes cavus, Distal lower limb muscle weakness, Sudden episodic apnea, Episodic respiratory distres... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Pes cavus, Distal lower limb muscle weakness, Sudden episodic apnea, Episodic respiratory distres... |
ORPHA:590 |
| Gaucher Disease Type 2 |
|
Abnormal pattern of respiration, Recurrent respiratory infections, Flexion contracture, Respirato... |
ORPHA:77260 |
| Otodental Syndrome |
|
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... |
ORPHA:2791 |
| Rapp-Hodgkin Syndrome |
|
2-3 toe cutaneous syndactyly, Recurrent otitis media, Conical tooth, Hypodontia, Stenosis of the ... |
OMIM:129400 |
| Saethre-Chotzen Syndrome |
|
Long nose, Microtia, Partial duplication of the distal phalanx of the 2nd finger, Partial duplica... |
OMIM:101400 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Wrist swelling, Osteoarthritis of the elbow, Pleuritis, Knee osteoarthritis, Bone cyst, Polyartic... |
ORPHA:2848 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Overlapping toe, Advanced eruption of teeth, Short philtrum, Camptodactyly, Hearing impairment, P... |
OMIM:619148 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... |
ORPHA:988 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Rocker bottom foot, U-Shaped upper lip vermilion, Narrow chest, Radial deviation of the hand, Low... |
OMIM:301041 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Short nose, Talipes, Finger syndactyly, Narrow mouth, Synostosis of joints, ... |
ORPHA:1234 |
| Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Thin vermilion border, Dental malocclusion, Dental crowding, Thin ribs, O... |
OMIM:614008 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Short nose, Craniosynostosis, Small ... |
OMIM:616723 |
| Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Everted lower lip vermilion, Camptodactyly, Enamel hypoplasia, Macr... |
OMIM:619980 |
| Blount Disease |
|
Osteochondrosis, Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the ... |
ORPHA:2768 |
| Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Bilateral cleft palate, Absent distal phalanges, Low-set... |
OMIM:619339 |
| Cog1-Cdg |
|
Osteopenia, Rhizomelia, Low-set, posteriorly rotated ears, Microtia, Short long bone, Posterior r... |
ORPHA:263508 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Recurrent otitis media, A... |
OMIM:620233 |
| Hypophosphatasia, Adult |
|
Rickets, Abnormal foot morphology, Pathologic fracture, Arthropathy, Carious teeth, Premature los... |
OMIM:146300 |
| Fryns Syndrome |
|
Rocker bottom foot, Proximal placement of thumb, Meckel diverticulum, Prominent fingertip pads, I... |
OMIM:229850 |
| Rubinstein-Taybi Syndrome 1 |
|
Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Den... |
OMIM:180849 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Low-set ears, Hypoplasia of the maxilla, Wide nasal bridge, Cuppe... |
OMIM:167730 |
| Mogs-Cdg |
|
Hypoventilation, Pulmonary edema, Retrognathia, Respiratory distress, Sensorineural hearing impai... |
ORPHA:79330 |
| Vacterl With Hydrocephalus |
|
Hypoplasia of the radius, Retrognathia, Esophageal atresia, Microtia, third degree, Tracheoesopha... |
ORPHA:3412 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Talipes, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Finger syndactyly, N... |
ORPHA:1908 |
| Osteoglosphonic Dysplasia |
|
Abnormal clavicle morphology, Abnormal bone ossification, Rhizomelia, Multiple unerupted teeth, T... |
ORPHA:2645 |
| Lig4 Syndrome |
|
Thin vermilion border, Clinodactyly of the 5th finger, Abnormality of chromosome stability, Growt... |
ORPHA:99812 |
| Craniolenticulosutural Dysplasia |
|
Long philtrum, Thin vermilion border, Narrow chest, Delayed eruption of teeth, Premature loss of ... |
ORPHA:50814 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Narrow mouth, High palate, Low-set ears, Micrognathia, Microglossia, Hypodo... |
OMIM:612776 |
| Short Stature-Micrognathia Syndrome |
|
Retrognathia, Rhizomelia, 2-3 toe syndactyly, High palate, Broad femoral neck, Micrognathia, Larg... |
OMIM:617164 |
| Cornelia De Lange Syndrome 6 |
|
Short nose, Clinodactyly of the 5th finger, Pectus carinatum, Pulmonary artery atresia, Low-set e... |
OMIM:620568 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Spontaneous neonatal pneumothorax, Recurrent mandibular subluxations, Hypodontia, Gin... |
OMIM:225410 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly |
OMIM:228250 |
| Gorlin Syndrome |
|
Orofacial cleft, Palmar pits, Odontogenic keratocysts of the jaw, Mandibular prognathia, Abnormal... |
ORPHA:377 |
| Pycnodysostosis |
|
Narrow palate, Increased bone mineral density, Absent frontal sinuses, Narrow iliac wing, Osteoly... |
OMIM:265800 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Abnormal palate morphology, Clinodactyly of the 5th f... |
ORPHA:3236 |
| Tetramelic Monodactyly |
|
Split foot, Foot monodactyly, Split hand, Hand monodactyly |
OMIM:187510 |
| Oculodentodigital Dysplasia |
|
Broad alveolar ridges, Abnormal pinna morphology, Tooth agenesis, Abnormality of the ear, Clinoda... |
ORPHA:2710 |
| Monosomy 18P |
|
Protruding ear, Short philtrum, Tooth malposition, Abnormal antihelix morphology, Enlarged thorax... |
ORPHA:1598 |
| Ollier Disease |
|
Abnormal metaphysis morphology, Micromelia, Abnormal cartilage morphology, Multiple enchondromato... |
ORPHA:296 |
| Distal Deletion 10Q |
|
Sandal gap, Prominent fingertip pads, Cochlear malformation, Pectus excavatum, Congenital sensori... |
ORPHA:96148 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Mosaic Trisomy 9 |
|
Rocker bottom foot, Deep plantar creases, Abnormal lung lobation, Tessier cleft, Deep palmar crea... |
ORPHA:99776 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Steatorrhea, Gingival overgrowth, Osteoporosis, Micromelia, Joint stiffness, Camptoda... |
ORPHA:2176 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Bowing of the legs, Tooth abscess |
ORPHA:89937 |
| Monosomy 9Q22.3 |
|
Polydactyly, Long philtrum, Orofacial cleft, Short nose, Palmar pits, Delayed eruption of teeth, ... |
ORPHA:77301 |
| Gracile Bone Dysplasia |
|
Slender long bone, Flared metaphysis, Thin ribs, Decreased skull ossification, Ankyloglossia, Dea... |
OMIM:602361 |
| Emanuel Syndrome |
|
Dental crowding, Severe hearing impairment, Bifid uvula, Long philtrum, Intrauterine growth retar... |
ORPHA:96170 |
| Arthrogryposis, Distal, Type 5D |
|
Hypermobility of distal interphalangeal joints, Limited elbow movement, Limited shoulder movement... |
OMIM:615065 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Tessier cleft, 2-3 toe syndactyly, Microtia, Narrow mouth, Atresia of the external auditory canal... |
OMIM:239800 |
| Zimmermann-Laband Syndrome |
|
Deep plantar creases, Pes cavus, Supernumerary tooth, Deep palmar crease, Gingival fibromatosis, ... |
ORPHA:3473 |
| Icf Syndrome |
|
Abnormality of chromosome stability, Low-set ears, Protruding tongue, Short stature, Micrognathia... |
ORPHA:2268 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormal metacarpal morphology, Abnormal hip bone morphology, Trismus, Finger syndactyly, Open bi... |
ORPHA:2907 |
| Moebius Syndrome |
|
Aplasia of the pectoralis major muscle, Everted lower lip vermilion, Microdontia, Tooth agenesis,... |
ORPHA:570 |
| Frontorhiny |
|
Low-set, posteriorly rotated ears, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Campto... |
ORPHA:391474 |
| Verheij Syndrome |
|
Long philtrum, Retrognathia, Short nose, Intrauterine growth retardation, Thin upper lip vermilio... |
OMIM:615583 |
| 15Q Overgrowth Syndrome |
|
Retrognathia, Mixed hearing impairment, Dental crowding, Abnormality of the incisor, Abnormal ste... |
ORPHA:314585 |
| Fatco Syndrome |
|
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... |
ORPHA:2492 |
| Sweeney-Cox Syndrome |
|
Microtia, Short distal phalanx of finger, Short philtrum, Hearing impairment, Crumpled ear, Cuppe... |
OMIM:617746 |
| Cleft Velum |
|
Recurrent otitis media, Cleft soft palate, Aspiration pneumonia, Hypoplasia of the maxilla, Condu... |
ORPHA:99772 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Abnormal pinna morphology, Abnormal oral frenulum morphology, Bifid ... |
OMIM:200990 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Mixed hearing impairment, Respiratory distress, Sensorineural hearing impairment, Microtia, Steno... |
OMIM:606164 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Recurrent lower respiratory tract infections, Abnormality of the te... |
ORPHA:258 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Thin upper lip vermilion, Hyperplasia of the maxilla |
OMIM:618587 |
| Alpha-Mannosidosis, Infantile Form |
|
Mixed hearing impairment, Sensorineural hearing impairment, Pectus carinatum, Pectus excavatum, J... |
ORPHA:309282 |
| Branchioskeletogenital Syndrome |
|
Mixed hearing impairment, Upper limb peromelia, Pectus excavatum, Bifid uvula, Craniosynostosis, ... |
ORPHA:1299 |
| Mucopolysaccharidosis Type 3 |
|
Chronic otitis media, Mixed hearing impairment, Reduced bone mineral density, Sensorineural heari... |
ORPHA:581 |
| Faciocardiomelic Syndrome |
|
Polydactyly, Osteopenia, Hyperplasia of the maxilla, Narrow chest, Slender long bone, Hypoplastic... |
OMIM:612731 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short femur, Short humerus, Tapered finger |
OMIM:618367 |
| Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Pectus excavatum, Bifid uvula, Broad philtrum, Abnormality of th... |
OMIM:211380 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Absent ossification of capital femoral epiphysis, Delayed epiphyseal ossifi... |
ORPHA:226313 |
| Endocrine-Cerebroosteodysplasia |
|
Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Fibular bowing, Micromelia, Ulnar dev... |
OMIM:612651 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon... |
OMIM:180700 |
| Fetal Akinesia Deformation Sequence |
|
Pterygium, Intestinal hypoplasia, Arthrogryposis multiplex congenita, Camptodactyly of finger, Mi... |
ORPHA:994 |
| 2Q31.1 Microdeletion Syndrome |
|
Sandal gap, Everted lower lip vermilion, Long philtrum, Abnormal fibula morphology, Abnormal tibi... |
ORPHA:251014 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Retrognathia, Abnormal bone ossification, Metaphyseal enchondromatosis, Metaphyseal irregularity,... |
ORPHA:99646 |
| Short Stature And Facioauriculothoracic Malformations |
|
Pectus carinatum, Microtia, High palate, Pectus excavatum, Low-set ears, Proportionate short stat... |
OMIM:609654 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Rocker bottom foot, Bilateral single transverse palmar creases, Pectus carinatum, Joint hypermobi... |
ORPHA:488642 |
| Teebi Hypertelorism Syndrome 1 |
|
Short nose, Dental crowding, Coronal craniosynostosis, Micrognathia, Natal tooth, Pulmonary hypop... |
OMIM:145420 |
| Frank-Ter Haar Syndrome |
|
Broad alveolar ridges, Broad clavicles, Short long bone, Pectus excavatum, Wide mouth, Wormian bo... |
OMIM:249420 |
| Ritscher-Schinzel Syndrome 1 |
|
Low-set ears, Anal atresia, Missing ribs, Micrognathia, Cleft palate, Syndactyly, Intrauterine gr... |
OMIM:220210 |
| Monosomy 9P |
|
Bilateral single transverse palmar creases, Short nose, Proximal placement of thumb, Abnormal ant... |
ORPHA:261112 |
| Diamond-Blackfan Anemia 1 |
|
Hypoplasia of the radius, Retrognathia, Triphalangeal thumb, 11 pairs of ribs, Hypoplastic coccyg... |
OMIM:105650 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Low-set ears, Broad thumb, Cleft upper lip, Cle... |
OMIM:600987 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Fibular overgrowth, Generalized bone demineralization, Flared metaphysis, Delayed epiphyseal ossi... |
ORPHA:93352 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Ground-glass opacification, Intraalveolar phospholipid accumulation, Clubbing, Dyspnea, Death in ... |
OMIM:265120 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Hearing impairment, Pulmonary hypoplasia, Flexion contracture, Intrauterine... |
OMIM:616733 |
| Braddock-Carey Syndrome 2 |
|
Retrognathia, Hearing impairment, Atresia of the external auditory canal, Cleft palate, Pierre-Ro... |
OMIM:619981 |
| Trisomy 18 |
|
Narrow palate, Bilateral single transverse palmar creases, Short nose, Abnormal hip bone morpholo... |
ORPHA:3380 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, M... |
OMIM:266920 |
| Duane Retraction Syndrome |
|
Hypoplasia of the radius, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thu... |
ORPHA:233 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Finger syndactyly, Hypodontia, Adactyly, Split hand, High palate, ... |
ORPHA:989 |
| Cranioectodermal Dysplasia 2 |
|
Retrognathia, Short ribs, Everted lower lip vermilion, Microdontia, Pectus excavatum, Mesomelia, ... |
OMIM:613610 |
| Robinow Syndrome |
|
Mixed hearing impairment, Mesomelic arm shortening, Broad alveolar ridges, Dental crowding, Mesom... |
ORPHA:97360 |
| Hamamy Syndrome |
|
Sensorineural hearing impairment, Everted lower lip vermilion, Pectus excavatum, Wide mouth, Synd... |
OMIM:611174 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short nose, Aganglionic megacolon, Short philtrum, Sensorineural hearing impairment, Delayed ossi... |
OMIM:239300 |
| Cree Mental Retardation Syndrome |
|
Rocker bottom foot, Cleft soft palate, Low-set ears, Pectus excavatum, Cutaneous finger syndactyl... |
OMIM:606851 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short nose, Death in early adulthood, Short clavicles, Dental crowding, Osteolytic defects of the... |
OMIM:608612 |
| Cartilage-Hair Hypoplasia |
|
Limited elbow extension, Aganglionic megacolon, Anal stenosis, Esophageal atresia, Asymmetry of t... |
OMIM:250250 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Sensorineural hearing impairment, Tooth agenesis, Mesomelia, Wide mo... |
ORPHA:818 |
| Mucopolysaccharidosis, Type X |
|
Genu valgum, Widely spaced teeth, Spatulate ribs, Broad clavicles, Open bite, Irregular acetabula... |
OMIM:619698 |
| Fanconi Anemia, Complementation Group W |
|
Hypoplasia of the radius, Abnormal radial ray morphology, Absent thumb, Intrauterine growth retar... |
OMIM:617784 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sandal gap, Pectus excavatum, Joint stiffness, Long philtrum, Deep palmar crease, Short philtrum,... |
OMIM:619127 |
| Singleton-Merten Syndrome 1 |
|
Eruption failure, Short dental root, Expanded phalanges with widened medullary cavities, Coxa val... |
OMIM:182250 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Pyloric stenosis, Conductive hearing impairment, Hand polydacty... |
ORPHA:261197 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Long philtrum, Respiratory distress, Pectus carinatum, Gingival overgrowth, Prominent... |
ORPHA:363705 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Protruding ear, Pes planus, Wide nasal bridge, Hypoplasia of the maxilla |
OMIM:618302 |
| Desmosterolosis |
|
Retrognathia, Osteopetrosis, Short nose, Talipes, Abnormal earlobe morphology, Low-set, posterior... |
ORPHA:35107 |
| Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Short philtrum, Sensorineural hearing impairment, Hypoplasia o... |
ORPHA:96129 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Thin vermilion border, Retrognathia, Death in childhood, Sensorineural hearing impairment, Protru... |
OMIM:612938 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Respiratory distress, Micrognathia, Recurrent pneumonia, Flexion contracture, Trismus... |
OMIM:616271 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Limited elbow extension, Narrow palate, Craniosynostosis, Respiratory distress, Gingival overgrow... |
OMIM:123790 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Reduced bone mineral density, Aganglionic megacolon, Pectus excav... |
ORPHA:935 |
| Trisomy 12P |
|
Short nose, Clinodactyly of the 5th finger, Abnormal antihelix morphology, Low-set ears, Everted ... |
ORPHA:1699 |
| Coccidioidomycosis |
|
Abnormal long bone morphology, Abnormal metacarpal morphology, Respiratory distress, Arthritis, P... |
ORPHA:228123 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis |
OMIM:618773 |
| Kbg Syndrome |
|
Widely-spaced maxillary central incisors, Radial deviation of finger, Clinodactyly of the 5th fin... |
OMIM:148050 |
| Epiphyseal Dysplasia, Baumann Type |
|
Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypoplasia of the femoral head,... |
OMIM:610797 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Arthrogryposis multiplex congenita, Apneic episodes precipitated by illness, fatigue, stress, Sud... |
OMIM:254210 |
| Arthrogryposis Multiplex Congenita 5 |
|
Rocker bottom foot, Pes valgus, Limitation of knee mobility, Hammertoe, 11 pairs of ribs, Elbow f... |
OMIM:618947 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Narrow palate, Hearing abnormality, Thickened helices, Palmoplantar cutis gyrata, Aplasia/Hypopla... |
ORPHA:1555 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Recurrent joint dislocation, Abnormal sternum morphology, Abnormal pinna morphology, Malrotation ... |
ORPHA:2953 |
| Tularemia |
|
Abnormal pulmonary thoracic imaging finding, Respiratory distress, Oral ulcer, Pleural effusion, ... |
ORPHA:3392 |
| Mgat2-Cdg |
|
Osteopenia, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Respiratory distress,... |
ORPHA:79329 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arachnodactyly, Bifid uvula, Absent thumb, Cervical ribs, Joint hypermobility, Intrauterine growt... |
ORPHA:500150 |
| Adnp Syndrome |
|
Polydactyly, Advanced eruption of teeth, Thick lower lip vermilion, Protruding ear, Sandal gap, R... |
ORPHA:404448 |
| Rhyns Syndrome |
|
Osteopenia, Sensorineural hearing impairment, Short long bone, Osteoporosis, Radial bowing, Condu... |
OMIM:602152 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Holoprosencephaly 9 |
|
Agenesis of incisor, Short nose, Thick lower lip vermilion, Solitary median maxillary central inc... |
OMIM:610829 |
| Hajdu-Cheney Syndrome |
|
Partial absence of toe, Pectus carinatum, Decreased skull ossification, Intestinal malrotation, S... |
ORPHA:955 |
| Sanjad-Sakati Syndrome |
|
Intestinal obstruction, Thin vermilion border, Low-set, posteriorly rotated ears, Abnormal dental... |
ORPHA:2323 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retrognathia, Mandibular prognathia, Hearing impairment, Hypoplasia of the maxilla, Micrognathia,... |
OMIM:620157 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Hand clenching, Respiratory distress |
ORPHA:240103 |
| Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
| Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Clinodactyly of the 5th finger, Short philtrum, Oligodontia, Low-set ears,... |
OMIM:609460 |
| Dominant Beta-Thalassemia |
|
Genu valgum, Dyspnea, Abnormality of the dentition, Bowing of the long bones, Osteoporosis, Malar... |
ORPHA:231226 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Limited elbow extension, Genu valgum, Recurrent otitis media, Broad long bone diaphyses, Broad me... |
OMIM:301066 |
| Floating-Harbor Syndrome |
|
Long nose, Dislocated radial head, Short metacarpal, Microdontia, Cochlear malformation, Wide mou... |
ORPHA:2044 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Recurrent otitis media, Triphalangeal thumb, Esophagitis, Osteoporosis, Growth delay,... |
OMIM:612562 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Joint hypermobility, Overlapping toe, Long philtrum, Low-set, posteriorly rotated ears, Tooth mal... |
ORPHA:480880 |
| Craniosynostosis And Dental Anomalies |
|
Chronic otitis media, Dental crowding, Clinodactyly, Narrow palate, Short phalanx of finger, Broa... |
OMIM:614188 |
| Larsen Syndrome |
|
Broad distal phalanx of finger, Craniosynostosis, Large joint dislocations, Finger syndactyly, La... |
ORPHA:503 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Tibial bowing, Short distal phalanx of finger, Increased density of long bones, Broad ribs, Long ... |
OMIM:269150 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Pneumothorax, Long philtrum, Dental crowding, Mandibular prognathia, Hip dysplasia, High palate, ... |
OMIM:617402 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Death in infancy, Block vertebrae, Rib fusion, Recurrent respiratory infections, Vertebral fusion |
OMIM:277300 |
| Simpson-Golabi-Behmel Syndrome |
|
Pectus excavatum, Death in infancy, Broad thumb, Wide mouth, Low-set, posteriorly rotated ears, A... |
ORPHA:373 |
| Mucopolysaccharidosis, Type Iiid |
|
Pes cavus, Thick lower lip vermilion, Recurrent otitis media, Broad alveolar ridges, Elbow flexio... |
OMIM:252940 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Nocturnal hypoventilation, Death in childhood, Respiratory distress, Sensorineural hearing impair... |
OMIM:211530 |
| Triploidy |
|
Low-set, posteriorly rotated ears, Narrow chest, Meningocele, Finger syndactyly, Non-midline clef... |
ORPHA:3376 |
| Czeizel-Losonci Syndrome |
|
Hypoplastic helices, Low-set, posteriorly rotated ears, Hitchhiker thumb, Single transverse palma... |
ORPHA:2437 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Broad thumb, Mesomelia, Syndactyly, Long philtrum, Clinodactyly, Triangular mouth, Camptodactyly,... |
OMIM:616894 |
| Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Aglossia, Pu... |
OMIM:241310 |
| Cerebrocostomandibular Syndrome |
|
Clinodactyly of the 5th finger, Bell-shaped thorax, Tracheomalacia, Short hard palate, Glossoptos... |
ORPHA:1393 |
| X-Linked Centronuclear Myopathy |
|
Pneumonia, Recurrent respiratory infections, High palate, Respiratory distress |
ORPHA:596 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Retrognathia, Mandibular prognathia, Camptodactyly of finger, Micrognathia, Bifid uvula, Cleft pa... |
ORPHA:2521 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress |
ORPHA:238329 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Microtia, Pectus excavatum, Wide mouth, Syndactyly, Narrow palate, Camptodactyly, Hearing impairm... |
OMIM:227330 |
| Galloway-Mowat Syndrome 7 |
|
Cubitus valgus, Single transverse palmar crease, High palate, Pectus excavatum, Cleft lip, Arachn... |
OMIM:618348 |
| Geleophysic Dysplasia 3 |
|
Limited elbow movement, Long philtrum, Dyspnea, Epiphyseal dysplasia, Limb undergrowth, Thick ver... |
OMIM:617809 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Dental crowding, Abnormal pinna morphology, Pectus carinatum, Pectus excavatum, Bifid uvula, Shor... |
OMIM:309583 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the earlobes, Abnormal dental enamel morpho... |
ORPHA:2916 |
| Apert Syndrome |
|
Chronic otitis media, Limited elbow movement, Pectus carinatum, Broad thumb, Bifid uvula, Syndact... |
OMIM:101200 |
| Larsen Syndrome |
|
Multiple carpal ossification centers, Pectus carinatum, Knee dislocation, Short metacarpal, Pectu... |
OMIM:150250 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Abnormal earlobe morphology, Sandal gap, Sensorineural hearing impairment, Arachnodactyly, Joint ... |
ORPHA:261330 |
| Treacher-Collins Syndrome |
|
Retrognathia, Microtia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide mouth, Abno... |
ORPHA:861 |
| Barber-Say Syndrome |
|
Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of t... |
OMIM:209885 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Widely-spaced incisors, Hypoplasia of the maxilla, Smooth philtrum, Protruding ear, Thin upper li... |
OMIM:618737 |
| Crouzon Syndrome |
|
Narrow palate, Multiple suture craniosynostosis, Hearing impairment, Conductive hearing impairmen... |
ORPHA:207 |
| Lacrimoauriculodentodigital Syndrome |
|
Mixed hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology, Microtia, ... |
ORPHA:2363 |
| Distal Duplication 17Q |
|
Pes cavus, Protruding ear, Genu valgum, Rhizomelia, Low-set, posteriorly rotated ears, Short phil... |
ORPHA:3379 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Short finger, Single transverse palmar crease, Slender finger, Irregular dentition, Arachnodactyl... |
OMIM:615656 |
| Osteogenesis Imperfecta, Type Xvii |
|
Reduced bone mineral density, Hearing abnormality, Thin metacarpal cortices, Bowed humerus, Thin ... |
OMIM:616507 |
| Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Hypoplastic ischia, Intraut... |
OMIM:210730 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Retrognathia, Pectus carinatum, Everted lower lip vermilion, Contracture of the proximal interpha... |
ORPHA:464738 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Low-set ears, Hypoplasia of the maxilla, Recurrent upper respirat... |
ORPHA:2399 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Recurrent pneumonia, Infantile sensorineural hearing impairment, Severe sen... |
ORPHA:254875 |
| Miller-Dieker Lissencephaly Syndrome |
|
Polydactyly, Short nose, Clinodactyly of the 5th finger, Deep palmar crease, Delayed eruption of ... |
OMIM:247200 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Nasal polyposis, Hearing impairment, Sinusitis, Otitis media, Bronchiectasi... |
OMIM:606763 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Osteopenia, Delayed puberty, Sensorineural hearing impairment, Ectrodactyly, Tooth agenesis, Shor... |
OMIM:147950 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormality of the hand, Cheilitis, Aganglionic megacolon, Abnormal dental enamel morphology, Oli... |
ORPHA:2273 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... |
OMIM:617300 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Respiratory distress, Pes planus, Slender finger |
OMIM:250940 |
| Marfan Syndrome |
|
Narrow foot, Retrognathia, Dental crowding, Pectus carinatum, Pectus excavatum, Arachnodactyly, E... |
OMIM:154700 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Talipes equinovarus, Flared metaphysis, Long upper lip, Bowing of the long bones, Hyp... |
OMIM:615349 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Widely spaced teeth, Conical tooth, Hypodontia, 2-3 toe syndactyly, Selective tooth agenesis, Atr... |
OMIM:106260 |
| Peters-Plus Syndrome |
|
Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Pectus... |
OMIM:261540 |
| Kabuki Syndrome 2 |
|
Protruding ear, Recurrent otitis media, Hypodontia, Prominent fingertip pads, High palate, Low-se... |
OMIM:300867 |
| Geleophysic Dysplasia 1 |
|
Short long bone, Wrist flexion contracture, Pectus excavatum, Joint stiffness, Wide mouth, Long p... |
OMIM:231050 |
| Dyskeratosis Congenita |
|
Periodontitis, Hypodontia, Esophageal stenosis, Abnormality of the dentition, Osteoporosis, Trach... |
ORPHA:1775 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Rectovaginal fistula, Bilateral talipes equinovarus, Inflammation of the large intestine, Microgn... |
OMIM:619708 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Death in childhood, Cubitus valgus, Single transverse palmar crease, Abnormal helix morphology, C... |
OMIM:214110 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Joint contracture, Respiratory distress |
OMIM:617977 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Tarsal synostosis, Abnormality of the wrist, Bilateral conductive hearing impairment, Abnormality... |
ORPHA:2010 |
| X-Linked Intellectual Disability, Porteous Type |
|
Short philtrum, Mandibular prognathia, Short stature, Macrotia, Hypoplasia of the maxilla, Cupped... |
ORPHA:93945 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal finger morphology, Bifid uvula, Symphalangism affecting the phalanges of the hand, Wide ... |
ORPHA:2658 |
| Wolf-Hirschhorn Syndrome |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Malrotation of small bowel, Craniofa... |
OMIM:194190 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Absent thumb, Forearm undergrowth |
OMIM:602200 |
| Diamond-Blackfan Anemia 6 |
|
Retrognathia, Triphalangeal thumb, Tracheomalacia, Cleft upper lip, Micrognathia, Bifid uvula, Cl... |
OMIM:612561 |
| Baller-Gerold Syndrome |
|
Short nose, Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the... |
ORPHA:1225 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Anal atresia, Short stature, Macrotia, Hypoplasia of the maxilla |
ORPHA:93950 |
| Mesomelia-Synostoses Syndrome |
|
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ... |
OMIM:600383 |
| Coffin-Lowry Syndrome |
|
Sensorineural hearing impairment, Pectus carinatum, Short metacarpal, Everted lower lip vermilion... |
OMIM:303600 |
| Desmosterolosis |
|
Short nose, Rhizomelia, Gingival fibromatosis, Low-set ears, Total anomalous pulmonary venous ret... |
OMIM:602398 |
| Dextrocardia |
|
Abnormal lung lobation, Abnormal foot morphology, Meckel diverticulum, Aplasia/Hypoplasia of the ... |
ORPHA:1666 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Long philtrum, High, narrow palate, Abnormality of the ear, Mandibular prognathia, Pectus excavat... |
ORPHA:1101 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumothorax, Pulmonary pneumatocele, Respiratory distress, Acute infectious pneumonia, Pleural e... |
ORPHA:36238 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Tessier cleft, High, narrow palate, Low-set ears, Cleft upper lip, Cleft palate, Posteriorly rota... |
OMIM:607597 |
| Beta-Thalassemia Major |
|
Genu valgum, Dyspnea, Abnormality of the dentition, Bowing of the long bones, Osteoporosis, Malar... |
ORPHA:231214 |
| Fanconi Anemia, Complementation Group D2 |
|
Esophageal atresia, Deficient excision of UV-induced pyrimidine dimers in DNA, Low-set ears, Trac... |
OMIM:227646 |
| Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Short stature, Hearing impairment, Com... |
OMIM:600901 |
| Orofaciodigital Syndrome Type 1 |
|
Chronic otitis media, Reduced bone mineral density, Broad alveolar ridges, Accessory oral frenulu... |
ORPHA:2750 |
| Fryns-Smeets-Thiry Syndrome |
|
Thick lower lip vermilion, Short philtrum, Everted lower lip vermilion, Arachnodactyly, Micrognat... |
ORPHA:2058 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Carpal bone hypoplasia, Thick lower lip vermilion, Irregular epiphyses, Metaphyseal striations, F... |
OMIM:610442 |
| Witteveen-Kolk Syndrome |
|
Radial deviation of finger, Proximal placement of thumb, Sensorineural hearing impairment, Arachn... |
OMIM:613406 |
| Congenital Lobar Emphysema |
|
Emphysema, Respiratory distress |
ORPHA:1928 |
| Pseudoaminopterin Syndrome |
|
Clinodactyly of the 5th toe, Limited elbow movement, Pectus excavatum, Microdontia, Hypoplasia of... |
ORPHA:221120 |
| Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... |
OMIM:128980 |
| Orofaciodigital Syndrome Type 6 |
|
Preaxial polydactyly, Low-set, posteriorly rotated ears, Mesoaxial polydactyly, Tongue nodules, H... |
ORPHA:2754 |
| Whim Syndrome |
|
Atelectasis, Severe periodontitis, Parotitis, Bronchiectasis, Sinusitis, Recurrent pneumonia, Res... |
ORPHA:51636 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Short nose, Aganglionic megacolon, Anal stenosis, Anal atresia, Hearing impairment, Shortening of... |
OMIM:614749 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Sensorineural hearing impairment, Short middle phalanx of the 4th finger, Limited pronation/supin... |
OMIM:616738 |
| Fryns Syndrome |
|
Long philtrum, Aganglionic megacolon, Clinodactyly of the 5th finger, Low-set, posteriorly rotate... |
ORPHA:2059 |
| Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal femur morphology, Fractures of the long bones, Pleural effu... |
ORPHA:464329 |
| Kindler Epidermolysis Bullosa |
|
Short 4th metacarpal, Cheilitis, Periodontitis, Finger syndactyly, Abnormal dental enamel morphol... |
ORPHA:2908 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Short nose, Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Small earlobe, O... |
ORPHA:364577 |
| Acromelic Frontonasal Dysplasia |
|
Patellar hypoplasia, Median cleft palate, Aplasia/Hypoplasia of the tibia, Wide mouth, Median cle... |
ORPHA:1827 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Long philtrum, Diaphyseal dysplasia, Thick lower lip vermilion, Broad ischia, Thin bony cortex, B... |
OMIM:619727 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... |
OMIM:166740 |
| Fanconi Anemia, Complementation Group C |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Short stature, Hearing impairment, Com... |
OMIM:227645 |
| Kagami-Ogata Syndrome |
|
Bell-shaped thorax, Microtia, Limitation of joint mobility, Coat hanger sign of ribs, Micrognathi... |
ORPHA:254519 |
| Cranioectodermal Dysplasia 3 |
|
Widely spaced teeth, Rhizomelia, Sandal gap, Narrow chest, 2-3 toe syndactyly, Everted lower lip ... |
OMIM:614099 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Tessier cleft, Low-set, posteriorly rotated ears, Pectoral muscle hypoplasia/aplasia, Hypoplasia ... |
ORPHA:306542 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Femur fracture, Osteopetrosis, Death in childhood, Death in infancy, Abnormal trabecular bone mor... |
OMIM:612301 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... |
OMIM:605809 |
| Acrofrontofacionasal Dysostosis 1 |
|
Mixed hearing impairment, Acetabular dysplasia, Oligodontia, Mandibular prognathia, Short metacar... |
OMIM:201180 |
| Dental Anomalies And Short Stature |
|
Amelogenesis imperfecta, Widely spaced teeth, Oligodontia, Mandibular prognathia, Microdontia, Sh... |
OMIM:601216 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, Narrow chest, Postaxial hand polydactyly, High palate, Low-set ears, ... |
OMIM:235255 |
| Esophageal Atresia |
|
Respiratory distress, Bronchitis, Laryngotracheomalacia, Barrett esophagus, Esophagitis, Tracheoe... |
ORPHA:1199 |
| Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Short stature, Hearing impairment, Com... |
OMIM:227650 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Intrauterine growth retardation, Respiratory distress |
ORPHA:26792 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Short philtrum, Sensorineural hearing impairment, Exaggerated cupid's bow, High palate, Short met... |
OMIM:614230 |
| Lethal Congenital Contracture Syndrome 9 |
|
Axillary pterygium, Thoracic kyphoscoliosis, Low-set ears, Wrist flexion contracture, Congenital ... |
OMIM:616503 |
| Fraser Syndrome |
|
Dental crowding, Abnormal pinna morphology, Microtia, Death in infancy, Low-set, posteriorly rota... |
ORPHA:2052 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Recurrent respiratory infections, Rib fusion |
OMIM:608681 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... |
OMIM:620133 |
| Cowden Syndrome 5 |
|
High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hearing impairment, Hypoplas... |
OMIM:615108 |
| Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Bronchiect... |
OMIM:604571 |
| Lethal Congenital Contracture Syndrome 1 |
|
Micrognathia, Neonatal death, Pulmonary hypoplasia, Arthrogryposis multiplex congenita, Abnormal ... |
OMIM:253310 |
| Teebi-Shaltout Syndrome |
|
Rocker bottom foot, Small earlobe, Pectus carinatum, Pectus excavatum, Wide mouth, Syndactyly, Ol... |
OMIM:272950 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Neonatal death, Finger aplasia |
OMIM:276822 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Pes cavus, Everted upper lip vermilion, Absent cupid's bow, Widely spaced teeth, Recurrent otitis... |
ORPHA:513456 |
| Rothmund-Thomson Syndrome Type 2 |
|
Long nose, Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Microdontia, ... |
ORPHA:221016 |
| Lateral Meningocele Syndrome |
|
High, narrow palate, Craniofacial hyperostosis, Dental crowding, Sensorineural hearing impairment... |
ORPHA:2789 |
| Frontometaphyseal Dysplasia 2 |
|
Dislocated radial head, Sensorineural hearing impairment, Abnormal pinna morphology, Short metaca... |
OMIM:617137 |
| Bohring-Opitz Syndrome |
|
Retrognathia, Fixed elbow flexion, Low-set, posteriorly rotated ears, Joint dislocation, Metacarp... |
ORPHA:97297 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Tachypnea, Micrognathia, Horizontal ribs, Bell-shaped thorax |
OMIM:614857 |
| Alg12-Cdg |
|
Abnormal bone ossification, Clinodactyly of the 5th finger, Proximal placement of thumb, Sandal g... |
ORPHA:79324 |
| Meckel Syndrome 14 |
|
Pneumothorax, Retrognathia, Talipes, Postaxial hand polydactyly, Bowing of the long bones, Low-se... |
OMIM:619879 |
| Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Panacinar emphysema, Dyspnea, Bronchiectasis, Chronic bronchitis |
OMIM:613490 |
| Craniofacial Microsomia 1 |
|
Sensorineural hearing impairment, Microtia, Underdeveloped tragus, Wide mouth, Cervical ribs, Max... |
OMIM:164210 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Recurrent upper respiratory tract infection... |
OMIM:263000 |
| Aymé-Gripp Syndrome |
|
Rocker bottom foot, Sensorineural hearing impairment, Microtia, Long philtrum, Craniosynostosis, ... |
ORPHA:1272 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Marfan Syndrome |
|
Limited elbow movement, Retrognathia, Reduced bone mineral density, Dental crowding, Pectus carin... |
ORPHA:558 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Retrognathia, Pulmonary artery aneurysm, Tracheobronchomalacia, Microtia, Femoral bowing, Median ... |
OMIM:616462 |
| Branchiootic Syndrome |
|
Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, H... |
ORPHA:52429 |
| Alg9-Cdg |
|
Narrow greater sciatic notch, Abnormal bone ossification, Short long bone, Bifid uvula, Wide mout... |
ORPHA:79328 |
| Menke-Hennekam Syndrome 2 |
|
Duodenal ulcer, Sandal gap, Absent earlobe, Hearing impairment, Micrognathia, Cutaneous syndactyl... |
OMIM:618333 |
| Cowden Syndrome 6 |
|
High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hearing impairment, Hypoplas... |
OMIM:615109 |
| Hydrolethalus |
|
Retrognathia, Gingival cleft, Low-set, posteriorly rotated ears, Postaxial hand polydactyly, Low-... |
ORPHA:2189 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Pulmonary opacity, Respiratory distress, Pleural effusion, Dyspnea, Bronchiectasis |
ORPHA:411703 |
| Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs, Pedal edema, Intestinal lymphangiectasia |
OMIM:152800 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Retrognathia, Thin ribs, High palate |
ORPHA:456328 |
| Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
| Limb-Mammary Syndrome |
|
Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly, Hypodontia, Hallux ... |
OMIM:603543 |
| Loeys-Dietz Syndrome 5 |
|
Retrognathia, Flexion contracture of toe, Pectus carinatum, Pectus excavatum, Congenital finger f... |
OMIM:615582 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Aplasia of the distal phalanx of the 5th toe, Sensorineural hearing impairment, Everted lower lip... |
OMIM:608670 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Abnormal palate morphology, Tarsal synostosis, Short thorax, Abnorm... |
ORPHA:85199 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short nose, Clinodactyly of the 5th finger, Esophageal atresia, Low-set ears, Missing ribs, Trach... |
OMIM:619859 |
| Oculodentodigital Dysplasia |
|
Joint contracture of the 5th finger, Broad alveolar ridges, Abnormal pinna morphology, Microdonti... |
OMIM:164200 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Death in childhood, Hearing impairment, Enterocolitis, Micrognathia, Hypoplasia of the maxilla |
OMIM:301108 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Preaxial polydactyly, Narrow chest, Short ribs, Low-set ears, Micromelia, Postaxial polydactyly, ... |
OMIM:616546 |
| Acute Lung Injury |
|
Abnormal pulmonary interstitial morphology, Respiratory distress, Dyspnea, Pneumonia, Diffuse alv... |
ORPHA:178320 |
| Dent Disease |
|
Rickets, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement of the ankles, A... |
ORPHA:1652 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Deep plantar creases, Long philtrum, Thin vermilion border, Anal stenosis, Abnormal ilium morphol... |
OMIM:614080 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Fused cervical vertebrae, Absent phalangeal crease, Cleft palate, Antecubital ... |
OMIM:618469 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Rocker bottom foot, Short nose, Pectus excavatum of inferior sternum, Superior pectus carinatum, ... |
OMIM:601353 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Abnormal fibula morphology, Retrognathia, Short nose, Sandal gap, Abnormal dental enamel morpholo... |
ORPHA:1812 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Sensorineural hearing impairment, Death in infancy |
OMIM:616974 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Distal Deletion 9P |
|
Short nose, High, narrow palate, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the ear... |
ORPHA:1642 |
| Aase-Smith Syndrome I |
|
Abnormal pinna morphology, Slender finger, Death in infancy, Cleft palate, Flexion contracture, O... |
OMIM:147800 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Protruding ear, Abnormality of the philtrum, Low-set ears, Microdontia, Cleft lip, Cutaneous fing... |
OMIM:225060 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Popliteal pterygium, Tarsal synostosis, Multiple pterygia, Barrel-shaped chest, Pectus carinatum,... |
OMIM:178110 |
| Acrocardiofacial Syndrome |
|
Abnormal metacarpal morphology, Joint dislocation, Finger syndactyly, Split hand, Low-set ears, A... |
ORPHA:2008 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Exertional dyspnea, Atelectasis, Respiratory distress, Osteoporosis, Hearing impairment, Orthopne... |
ORPHA:365 |
| Cdags Syndrome |
|
Rectourethral fistula, Lambdoidal craniosynostosis, Rectovaginal fistula, Short clavicles, Sensor... |
OMIM:603116 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Hypoplasia of the radius, Clinodactyly of the 5th finger, Anal atresia, Pulmonary artery stenosis... |
ORPHA:140952 |
| Hallermann-Streiff Syndrome |
|
Supernumerary tooth, High, narrow palate, Reduced bone mineral density, Clinodactyly of the 5th f... |
ORPHA:2108 |
| Episodic Ataxia Type 1 |
|
Vertigo, Hand clenching, Calf muscle hypertrophy, Respiratory distress |
ORPHA:37612 |
| Craniofacioskeletal Syndrome |
|
Clinodactyly of the 5th finger, Barrel-shaped chest, Short philtrum, Narrow iliac wing, Microtia,... |
OMIM:300712 |
| Chime Syndrome |
|
Supernumerary tooth, Short philtrum, Hypodontia, Aplasia/Hypoplasia of the phalanges of the toes,... |
ORPHA:3474 |
| Fanconi Anemia, Complementation Group N |
|
Postnatal growth retardation, Hypoplasia of the radius, Anal atresia, Absent thumb, Short thumb, ... |
OMIM:610832 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Long philtrum, Thin upper lip vermilion, Respiratory distress |
OMIM:614741 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Long philtrum, Short nose, Clinodactyly of the 5th finger, Finger syndactyly, Open bite, High pal... |
ORPHA:1974 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Respiratory distress, Synotia, Narrow mouth, Mandibular aplasi... |
ORPHA:990 |
| Zygomycosis |
|
Pneumothorax, Atelectasis, Gastritis, Acute infectious pneumonia, Pleural effusion, Parenchymal c... |
ORPHA:73263 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Natal tooth, Neon... |
OMIM:609638 |
| Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Sandal gap, Postaxial hand polydactyly, High palate, Ankyloglossia, Low-se... |
OMIM:174300 |
| Distal Deletion 15Q |
|
Short finger, 2-3 toe cutaneous syndactyly, Genu valgum, Generalized joint hypermobility, Short p... |
ORPHA:1596 |
| Opitz-Kaveggia Syndrome |
|
Radial deviation of finger, Dental crowding, Sensorineural hearing impairment, Prominent fingerti... |
OMIM:305450 |
| Caffey Disease |
|
Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Cortical irregularity, Perio... |
OMIM:114000 |
| Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Prominent sternum, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
| Vater/Vacterl Association |
|
Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Esophageal atresia, Abnormal... |
OMIM:192350 |
| Mucopolysaccharidosis, Type Iiib |
|
Dense calvaria, Joint stiffness, Hearing impairment, Recurrent upper respiratory tract infections... |
OMIM:252920 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Calf muscle hypertrophy, Triceps weakness, Dyspnea, Thigh hypertrophy |
ORPHA:86812 |
| Restrictive Dermopathy |
|
Temporomandibular joint ankylosis, Thoracic kyphoscoliosis, Decreased skull ossification, Structu... |
ORPHA:1662 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Retrognathia, Solitary median maxillary central incisor, Dental crowding, Contracture of the prox... |
OMIM:301044 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Retrognathia, Clinodactyly of the 5th finger, Tapered toe, Sensorineural hearing impairment, Macr... |
ORPHA:544488 |
| 3Mc Syndrome 1 |
|
Postnatal growth retardation, Caudal appendage, Lambdoidal craniosynostosis, Clinodactyly of the ... |
OMIM:257920 |
| Genitopalatocardiac Syndrome |
|
Non-midline cleft of the upper lip, Postaxial hand polydactyly, Low-set ears, Micrognathia, Cleft... |
ORPHA:2075 |
| Avian Influenza |
|
Ground-glass opacification, Pneumothorax, Respiratory distress, Miscarriage, Pleural effusion, Dy... |
ORPHA:454836 |
| Crouzon Syndrome |
|
Lambdoidal craniosynostosis, Dental crowding, Mandibular prognathia, High palate, Coronal cranios... |
OMIM:123500 |
| Focal Dermal Hypoplasia |
|
Midclavicular aplasia, Mixed hearing impairment, Short ribs, Short metacarpal, Split foot, Intest... |
OMIM:305600 |
| Hajdu-Cheney Syndrome |
|
Dislocated radial head, Intestinal malrotation, Crowded carpal bones, Long philtrum, Pathologic f... |
OMIM:102500 |
| Mccune-Albright Syndrome |
|
Abnormal femur morphology, Abnormal facial skeleton morphology, Aneurysmal bone cyst, Polyostotic... |
ORPHA:562 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Lateral Meningocele Syndrome |
|
Long philtrum, Dental crowding, Wormian bones, High palate, Low-set ears, Abnormality of the midd... |
OMIM:130720 |
| Shwachman-Diamond Syndrome 2 |
|
Steatorrhea, Death in childhood, High palate, Low-set ears, Death in infancy, Anterior rib cuppin... |
OMIM:617941 |
| Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Retrognathia, 2-3 toe cutaneous syndactyly, Long nose, High palate, Narrow mouth, Low-set ears, L... |
OMIM:301091 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Abnormal clavicle morphology, Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrod... |
ORPHA:85165 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Hypermobility of distal interphalangeal joints, Repeated pneumothoraces, Pectus excavatum, Joint ... |
OMIM:130050 |
| Mucopolysaccharidosis, Type Iiic |
|
Dense calvaria, Everted lower lip vermilion, Joint stiffness, Hearing impairment, Recurrent upper... |
OMIM:252930 |
| Digeorge Syndrome |
|
High, narrow palate, Recurrent otitis media, Atelectasis, Short philtrum, Intervertebral disk deg... |
OMIM:188400 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Emphysema, Pectus excavatum, Arachnodactyly, Joint hypermobility, Recurrent respiratory infection... |
OMIM:219100 |
| Mucopolysaccharidosis, Type Iiia |
|
Dense calvaria, Joint stiffness, Hearing impairment, Recurrent upper respiratory tract infections... |
OMIM:252900 |
| Spondylocostal Dysostosis 5 |
|
Pectus carinatum, Missing ribs, Supernumerary ribs, Posterior rib fusion, Vertebral fusion |
OMIM:122600 |
| Primrose Syndrome |
|
Reduced bone mineral density, Pectus excavatum, Generalized osteoporosis, Short distal phalanx of... |
OMIM:259050 |
| Pachyonychia Congenita |
|
Palmar hyperkeratosis, Advanced eruption of teeth, Ear pain, Respiratory distress, Angular cheili... |
ORPHA:2309 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Lung abscess, Intraalveolar phospholipid accumulation, Clubbing, Dyspnea, Pneumonia, Recurrent re... |
OMIM:610910 |
| Relapsing Polychondritis |
|
Atelectasis, Recurrent aphthous stomatitis, Arthritis, Sensorineural hearing impairment, Vertigo,... |
ORPHA:728 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Diaphyseal undertubulation, Arthritis, Gingival overgrowth, Sensorineural hearing impairment, Lim... |
ORPHA:217085 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Single transverse palmar crease, Low-set ears, Osteoporosis, Intrinsic hand... |
OMIM:615273 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Rectovaginal fistula, Oligodontia, Selective tooth agenesis, Split hand,... |
OMIM:129900 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... |
OMIM:265300 |
| Cowden Syndrome 1 |
|
High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hearing impairment, Hypoplas... |
OMIM:158350 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Polydactyly, Narrow chest, Short long bone, Brachydactyly |
OMIM:613819 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Macroglossia, High palate, Respiratory distress |
ORPHA:254864 |
| Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Hypoplastic pulmonary veins, Amelia, Glossoptosis, Low-set ears, Ankylog... |
OMIM:618021 |
| Restrictive Dermopathy 1 |
|
Rocker bottom foot, Temporomandibular joint ankylosis, Overtubulated long bones, Intrauterine gro... |
OMIM:275210 |
| Meckel Syndrome, Type 2 |
|
Polydactyly, Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly, Bowing of the l... |
OMIM:603194 |
| Meier-Gorlin Syndrome 7 |
|
Dislocated radial head, Sensorineural hearing impairment, Microtia, Clubbing, Joint hypermobility... |
OMIM:617063 |
| Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Ground-glass opacification, Respiratory distress, Dyspnea, Parenchymal consolidation |
ORPHA:1302 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Short greater sciatic notch, Meckel diverticulum, Pectus carinatum,... |
OMIM:312870 |
| Pentalogy Of Cantrell |
|
Orofacial cleft, Abnormal tibia morphology, Talipes, Non-midline cleft of the upper lip, Abnormal... |
ORPHA:1335 |
| Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Respiratory distress, Arthritis, Abnormality of the lower limb, Abnormality of the upp... |
ORPHA:36234 |
| Lujo Hemorrhagic Fever |
|
Stiff neck, Atelectasis, Respiratory distress |
ORPHA:319213 |
| Craniofrontonasal Syndrome |
|
Axillary pterygium, Clinodactyly of the 5th finger, Abnormality of the dentition, Pectus excavatu... |
OMIM:304110 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Abnormal metaphysis morphology, Absent or minimally ossified vertebral bodies, Long philtrum, Tes... |
ORPHA:93271 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Diaphyseal undertubulation, Arthritis, Gingival overgrowth, Sensorineural hearing impairment, Lim... |
ORPHA:217093 |
| Aspartylglucosaminuria |
|
Chronic otitis media, Short nose, Abnormal cortical bone morphology, Recurrent respiratory infect... |
ORPHA:93 |
| Fraser Syndrome 1 |
|
Abnormal middle ear morphology, Dental crowding, Abnormal pinna morphology, Aplasia/Hypoplasia of... |
OMIM:219000 |
| Ohdo Syndrome, Sbbys Variant |
|
Low-set ears, Microdontia, Hearing impairment, Long hallux, Micrognathia, Cleft palate, Posterior... |
OMIM:603736 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormal pulmonary interstitial morphology, Abnormal salivary gland morphology, Emphysema, Bone c... |
OMIM:181000 |
| Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Abnormal rib morphology |
ORPHA:280195 |
| Adams-Oliver Syndrome 6 |
|
Esophageal varix, Foot oligodactyly, Syndactyly, Brachydactyly |
OMIM:616589 |
| Isolated Cleft Lip |
|
Chronic otitis media, Supernumerary maxillary incisor, Abnormal Eustachian tube morphology, Non-m... |
ORPHA:199302 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Abnormal cartilage matrix, Epiphyseal stippling, Abnormal bone structure, Short metacarpal, Short... |
ORPHA:86822 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, Upper limb amyotrophy, Respirat... |
OMIM:620375 |
| Toriello-Carey Syndrome |
|
Postnatal growth retardation, Abnormal palate morphology, Aganglionic megacolon, Narrow chest, Wi... |
ORPHA:3338 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the humeroulnar joint, Abnormal rib morphology |
ORPHA:2234 |
| Loeys-Dietz Syndrome 1 |
|
Retrognathia, Pulmonary artery aneurysm, Abnormal sternum morphology, Pectus carinatum, Pectus ex... |
OMIM:609192 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint dislocation, Dental crowding, Thin ribs, Osteoporosis, Congenital hip dislocati... |
OMIM:225400 |
| Sprengel Deformity |
|
Sprengel anomaly, Rib segmentation abnormalities, Shoulder muscle hypoplasia |
OMIM:184400 |
| Pulmonary Capillary Hemangiomatosis |
|
Ground-glass opacification, Pulmonary edema, Pulmonary capillary hemangiomatosis, Hemothorax, Cen... |
ORPHA:199241 |
| Camurati-Engelmann Disease |
|
Genu valgum, Abnormal diaphysis morphology, Abnormal femur morphology, Abnormal tibia morphology,... |
ORPHA:1328 |
| Craniolenticulosutural Dysplasia |
|
Osteopenia, Long philtrum, Delayed closure of the anterior fontanelle, Delayed eruption of teeth,... |
OMIM:607812 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Death in childhood, Atelectasis, Pectus excavatum, Tachypnea, Pulmonary fibrosis, Recurrent respi... |
OMIM:618278 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Hearing impairment, Abnormal rib morphology |
ORPHA:2578 |
| Nipah Virus Disease |
|
Vertigo, Recurrent pharyngitis, Respiratory distress |
ORPHA:99825 |
| Cardiospondylocarpofacial Syndrome |
|
Long philtrum, Cone-shaped epiphysis, Tarsal synostosis, Fused cervical vertebrae, Recurrent otit... |
OMIM:157800 |
| Hypocomplementemic Urticarial Vasculitis |
|
Emphysema, Joint dislocation, Arthritis, Sensorineural hearing impairment, Pleural effusion, Dyspnea |
ORPHA:36412 |
| Viss Syndrome |
|
Rocker bottom foot, Retrognathia, Pulmonary artery aneurysm, Recurrent joint dislocation, Pectus ... |
OMIM:619472 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Asymmetry of the ears, Sensorineural hearing impairment, Microtia, Bifid uvula, Abnormality of th... |
OMIM:607872 |
| Japanese Encephalitis |
|
Pulmonary edema, Distal lower limb muscle weakness, Stiff neck, Distal upper limb muscle weakness... |
ORPHA:79139 |
| Incontinentia Pigmenti |
|
Orofacial cleft, Hearing abnormality, Delayed eruption of teeth, Finger syndactyly, Abnormal dent... |
ORPHA:464 |
| C Syndrome |
|
Bilateral single transverse palmar creases, Dislocated radial head, Pectus excavatum, Death in in... |
ORPHA:1308 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Pectus excavatum, Intestinal malrotation, Arachnodactyly, Abnormal duodenum morphology, Long phil... |
OMIM:601776 |
| Idiopathic Hypereosinophilic Syndrome |
|
Ankle swelling, Respiratory distress, Arthritis, Clubbing, Myelofibrosis, Pleural effusion, Dyspn... |
ORPHA:3260 |
| Proteus Syndrome |
|
Macrodactyly, Bronchogenic cyst, Asymmetry of the thorax, Abnormal finger morphology, Calvarial h... |
ORPHA:744 |
| Charge Syndrome |
|
Abnormal pinna morphology, Microtia, Tracheoesophageal fistula, Bifid femur, Intrauterine growth ... |
ORPHA:138 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Acute infectious pneumonia, Tachypnea, Crazy paving pattern, Respiratory distress |
ORPHA:264675 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumothorax, Respiratory distress, Dyspnea, Osteoporosis, Esophageal stricture, Enamel hypoplasi... |
ORPHA:79404 |
| Lymphangioleiomyomatosis |
|
Pneumothorax, Atelectasis, Emphysema, Recurrent respiratory infections, Chylothorax, Dyspnea, Pul... |
ORPHA:538 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Thin ribs, Calf muscle hypertrophy, Areflexia of lower l... |
ORPHA:169189 |
| Holoprosencephaly 7 |
|
Short nose, Solitary median maxillary central incisor, Bilateral cleft palate, Unilateral cleft p... |
OMIM:610828 |
| Folinic Acid-Responsive Seizures |
|
Sensorineural hearing impairment, Apnea, Respiratory distress |
ORPHA:79097 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Anal stenosis, Bell-shaped thorax, Short thorax, Ectopic anus, Pectus excavatum, Missing ribs, Bl... |
OMIM:613686 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Sensorineural hearing impairment, Single transverse palmar crease, Nasal flaring, Short palm, Dow... |
ORPHA:466943 |
| Nijmegen Breakage Syndrome |
|
Retrognathia, Anal stenosis, Hearing abnormality, Non-midline cleft of the upper lip, Abnormality... |
ORPHA:647 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Sensorineural hearing impairment, Calf muscle hypertrophy, Wrist flexion co... |
OMIM:618733 |
| Split Lower Lip |
|
Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla |
OMIM:183400 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Sensorineural hearing impairment, Hypoplasia of the maxilla, Ulnar deviation of the h... |
OMIM:122880 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
| Nijmegen Breakage Syndrome |
|
Long nose, Anal stenosis, Recurrent otitis media, Sandal gap, Recurrent bronchitis, 2-3 toe synda... |
OMIM:251260 |
| Familial Visceral Myopathy |
|
Aganglionic megacolon, Low-set, posteriorly rotated ears, Narrow chest, Joint stiffness, Camptoda... |
ORPHA:2604 |
| Orofaciodigital Syndrome I |
|
Radial deviation of finger, Syndactyly, Tongue nodules, Clinodactyly, Alveolar ridge overgrowth, ... |
OMIM:311200 |
| Fraser Syndrome 3 |
|
Abnormal lung lobation, Stillbirth, Low-set ears, Micrognathia, Short toe, Simple ear, Cutaneous ... |
OMIM:617667 |
| Marden-Walker Syndrome |
|
Retrognathia, Talipes, Pectus carinatum, Narrow mouth, Low-set ears, Pectus excavatum, Joint stif... |
ORPHA:2461 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Protruding ear, Emphysema, Genu recurvatum, Delayed cranial suture closure, Wormian b... |
ORPHA:90348 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Protruding ear, Widely spaced teeth, Clinodactyly of the 5th finger, Conical tooth, Finger syndac... |
ORPHA:1071 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Abnormality of primary teeth, Incisor macrodontia, High palate, Abnormal pi... |
ORPHA:438216 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, 2-3 toe syndactyly, Aortopul... |
OMIM:620025 |
| Cerebrofaciothoracic Dysplasia |
|
Short nose, Low-set, posteriorly rotated ears, Narrow chest, Rib fusion, Cleft upper lip, Sprenge... |
ORPHA:1394 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Sensorineural hearing impairme... |
OMIM:241520 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Posteriorly placed anus, Short long bone, Low-set ears, Total anomalous pul... |
OMIM:306955 |
| Cat Eye Syndrome |
|
Rectal fistula, Anal stenosis, Meckel diverticulum, Stenosis of the external auditory canal, Low-... |
OMIM:115470 |
| Neu-Laxova Syndrome 1 |
|
Rocker bottom foot, Radial deviation of finger, Swollen lip, Intrauterine growth retardation, Cli... |
OMIM:256520 |
| Severe Acute Respiratory Syndrome |
|
Acute infectious pneumonia, Dyspnea, Respiratory distress |
ORPHA:140896 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Microdontia, H... |
OMIM:601499 |
| Mosaic Trisomy 20 |
|
Retrognathia, Fused cervical vertebrae, Narrow chest, Intrauterine growth retardation, Hearing im... |
ORPHA:1724 |
| Gm1-Gangliosidosis, Type I |
|
Gingival overgrowth, Death in infancy, Joint stiffness, Hypoplastic vertebral bodies, Intrauterin... |
OMIM:230500 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress |
OMIM:613561 |
| Congenital Pulmonary Lymphangiectasia |
|
Pleural effusion, Respiratory distress |
ORPHA:2414 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Lymphocytic interstitial pneumonia, Respiratory distress |
OMIM:245590 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hypoplastic sacrum, Absence of Stensen duct, Anal stenosis, Microtia, Selective tooth agenesis, S... |
OMIM:604292 |
| Fanconi-Bickel Syndrome |
|
Rickets, Bowing of the long bones, Osteopenia |
ORPHA:2088 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Abnormal pelvic girdle bone morphology, Sinusitis, Recurrent pneumonia, Anterior rib cupping, Pne... |
OMIM:102700 |
| Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, Retrognathia, Sandal gap, Dislocated radial head, Abnormal pinna morphology, Prom... |
OMIM:135900 |
| Anaplastic Thyroid Carcinoma |
|
Dyspnea, Neoplasm of the lung, Tracheoesophageal fistula, Respiratory distress |
ORPHA:142 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... |
OMIM:313500 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft upper lip, Cleft palate |
OMIM:179400 |
| Oncogenic Osteomalacia |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal foot morphology, Tibial bowing, A... |
ORPHA:352540 |
| Osteogenesis Imperfecta, Type Xv |
|
Joint hypermobility, Thin ribs, Bowing of limbs due to multiple fractures, Recurrent fractures |
OMIM:615220 |
| Cerebrooculonasal Syndrome |
|
Narrow palate, Short nose, Solitary median maxillary central incisor, Postaxial hand polydactyly,... |
OMIM:605627 |
| Axenfeld-Rieger Syndrome |
|
Anal stenosis, Everted lower lip vermilion, Microdontia, Hearing impairment, Hypoplasia of the ma... |
ORPHA:782 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Bowing of the long bones, Cleft... |
OMIM:611561 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Sandal gap, Joint contracture of the 5th finger, Prominent fingertip pads, Microdontia, Long phil... |
ORPHA:363611 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Deafness-Hypogonadism Syndrome |
|
Delayed puberty, Abnormality of the internal auditory canal, Progressive sensorineural hearing im... |
ORPHA:90646 |
| Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Sensorineural hearing impairment, Microtia, Malrotation of colon, In... |
OMIM:113620 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Ciliary Dyskinesia, Primary, 20 |
|
Absent outer dynein arms, Recurrent otitis media, Atelectasis, Pulmonary artery stenosis, Recurre... |
OMIM:615067 |
| Fabry Disease |
|
Reduced bone mineral density, Abnormal femur morphology, Emphysema, Thick lower lip vermilion, Ar... |
ORPHA:324 |
| Native American Myopathy |
|
High palate, Camptodactyly, Congenital contracture, Conductive hearing impairment, Micrognathia, ... |
ORPHA:168572 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short nose, Deep palmar crease, Barrel-shaped chest, Respiratory distress, Pectus carinatum, Thor... |
ORPHA:505248 |
| Menke-Hennekam Syndrome 1 |
|
Everted upper lip vermilion, Sandal gap, Short ear, Prominent inferior crus of antihelix, Long ph... |
OMIM:618332 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Short ribs, Missing ribs, Anal atresia, Block vertebrae, Pulmonary hypoplasia, Rib fus... |
OMIM:271520 |
| Ablepharon Macrostomia Syndrome |
|
Thin vermilion border, Microtia, Microdontia, Hearing impairment, Camptodactyly of finger, Atresi... |
ORPHA:920 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Pneumothorax, Emphysema, Joint subluxation, Pyloric stenosis, Recurrent pneumonia, Small bowel di... |
ORPHA:90349 |
| Tetanus |
|
Respiratory distress, Tachypnea, Stiff neck, Trismus |
ORPHA:3299 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Hypophosphatemic rickets, Abnormality of the lower limb, Abnormality of the dentition, O... |
OMIM:193100 |
| Bor Syndrome |
|
Retrognathia, Stenosis of the external auditory canal, Abnormal pinna morphology, Abnormality of ... |
ORPHA:107 |
| Slc35A1-Cdg |
|
Pneumonia, Pulmonary hemorrhage, Respiratory distress |
ORPHA:238459 |
| Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Emphysema |
ORPHA:1164 |
| X-Linked Intellectual Disability, Armfield Type |
|
Limited elbow extension, Long ear, Short philtrum, Mandibular prognathia, Macrotia, Micrognathia,... |
ORPHA:85276 |
| Granulomatous Disease, Chronic, X-Linked |
|
Air bronchogram, Atelectasis, Rectal abscess, Pleural effusion, Recurrent pneumonia, Osteomyelitis |
OMIM:306400 |
| Hypoglossia-Hypodactylia |
|
Retrognathia, Adactyly, Narrow mouth, Split hand, Micrognathia, Microglossia, Aglossia |
OMIM:103300 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Irregular respiration, Respiratory distress, High palate, Death in infancy |
OMIM:604377 |
| Loeys-Dietz Syndrome 2 |
|
Retrognathia, Pulmonary artery aneurysm, Abnormal sternum morphology, Pectus carinatum, Pectus ex... |
OMIM:610168 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Rickets, Osteopenia, Abnormal pulmonary interstitial morphology, Reduced bone mineral density, Em... |
OMIM:613658 |
| Renpenning Syndrome 1 |
|
Narrow foot, Pectus excavatum, Short philtrum, Camptodactyly, Hearing impairment, Cleft palate, M... |
OMIM:309500 |
| Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
| Oromandibular Dystonia |
|
Abnormality of the temporomandibular joint, Abnormal lip morphology, Abnormal mandible morphology... |
ORPHA:93958 |
| Constricting Bands, Congenital |
|
Abnormal lung lobation, Tessier cleft, Cleft upper lip, Hand polydactyly, Cleft palate, Syndactyl... |
OMIM:217100 |
| Ring Chromosome 7 Syndrome |
|
Thin vermilion border, Short nose, Genu valgum, Clinodactyly of the 5th finger, Short philtrum, S... |
ORPHA:1449 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Abnormal pinna morphology, Neonatal death, Pulmonary hypoplasia, Respiratory distress |
OMIM:231680 |
| Laryngomalacia |
|
Respiratory distress |
OMIM:150280 |
| Noonan Syndrome 1 |
|
High, narrow palate, Radial deviation of finger, Cubitus valgus, Pectus excavatum of inferior ste... |
OMIM:163950 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Rickets, Death in childhood, Death in adolescence, Osteoporosis, Hearing impairment |
OMIM:560000 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Retrognathia, Osteopetrosis, Prominent floating ribs, Thick lower lip vermilion, Tooth malpositio... |
ORPHA:2785 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Kabuki Syndrome 1 |
|
Prominent fingertip pads, Intestinal malrotation, Recurrent aspiration pneumonia, Joint hypermobi... |
OMIM:147920 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Narrow mouth, Flexion contracture |
OMIM:614833 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Intrauterine growth retardation, Death in childhood, Respiratory distress |
OMIM:615597 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Tachypnea, Death in infancy |
OMIM:614299 |
| Townes-Brocks Syndrome |
|
Absent toe, Abnormal pinna morphology, Microtia, Broad thumb, Wide mouth, Aplasia/Hypoplasia of t... |
ORPHA:857 |
| Pallister-Killian Syndrome |
|
Everted lower lip vermilion, Intestinal malrotation, Bifid uvula, Wide mouth, Long philtrum, Edem... |
OMIM:601803 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypoplastic helices, Death in childhood, Clubbing, Split hand, Low-set ears, Growth delay, Cleft ... |
OMIM:600460 |
| Angelman Syndrome |
|
Widely spaced teeth, Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mo... |
OMIM:105830 |
| 1P36 Deletion Syndrome |
|
Sensorineural hearing impairment, Microtia, Abnormal intestine morphology, Joint stiffness, Abnor... |
ORPHA:1606 |
| Lowe Oculocerebrorenal Syndrome |
|
Rickets, Wrist swelling, Genu valgum, Pathologic fracture, Osteomalacia, Camptodactyly of finger,... |
OMIM:309000 |
| Idiopathic Neonatal Atrial Flutter |
|
Tachypnea, Respiratory distress |
ORPHA:45452 |
| Chronic Pneumonitis Of Infancy |
|
Ground-glass opacification, Intercostal retractions, Respiratory distress, Diffuse reticular or f... |
ORPHA:91359 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Intestinal atresia, Tracheoesophageal fistula, Abnormal rib morphology |
ORPHA:93941 |
| Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Thin ribs, Flexion contracture, Congenital contracture |
OMIM:615368 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Retrognathia, Short philtrum, Short long bone, Downturned corners of mouth, Posteriorly rotated e... |
OMIM:301110 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema |
OMIM:618307 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Respiratory distress, Hearing impairm... |
ORPHA:206436 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Rickets, Rachitic rosary, Hypophosphatemic rickets |
OMIM:612089 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
| Genitopatellar Syndrome |
|
Anal stenosis, Knee flexion contracture, Delayed eruption of teeth, Inferior pubic ramus hypoplas... |
OMIM:606170 |
| Congenital Tracheomalacia |
|
Pneumothorax, Emphysema, Esophageal atresia, Intercostal retractions, Tracheomalacia, Tracheobron... |
ORPHA:95430 |
| Cryptococcosis |
|
Pneumonia, Respiratory distress, Abnormality of the outer ear, Pleural effusion, Dyspnea, Osteoly... |
ORPHA:1546 |
| Isolated Atp Synthase Deficiency |
|
Sensorineural hearing impairment, Respiratory distress |
ORPHA:254913 |
| Orofaciodigital Syndrome Xiv |
|
Supernumerary tooth, Preaxial polydactyly, Aplasia of the epiglottis, Short ribs, Postaxial hand ... |
OMIM:615948 |
| Pseudo-Torch Syndrome 2 |
|
Thin ribs, Pleural effusion |
OMIM:617397 |
| Alpha-Thalassemia |
|
Pleural effusion, Malar prominence, Hyperplasia of the maxilla |
ORPHA:846 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Retrognathia, Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Posterior r... |
OMIM:265380 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
| Riddle Syndrome |
|
Chromosomal breakage induced by ionizing radiation, Short stature, Recurrent sinusitis, Otitis me... |
ORPHA:420741 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress |
ORPHA:79312 |
| Brain-Lung-Thyroid Syndrome |
|
Abnormal pulmonary interstitial morphology, Respiratory distress, Sensorineural hearing impairmen... |
ORPHA:209905 |
| Tetraamelia Syndrome 1 |
|
Abnormal clavicle morphology, Low-set ears, Anal atresia, Hypoplastic pelvis, Cleft upper lip, Mi... |
OMIM:273395 |
| Benign Schwannoma |
|
Abnormal fibula morphology, Hearing abnormality, Intestinal polyposis, Vertigo, Abnormal esophagu... |
ORPHA:252164 |
| Laryngotracheal Angioma |
|
Apnea, Intercostal retractions, Respiratory distress |
ORPHA:137935 |
| Microphthalmia, Syndromic 6 |
|
Retrognathia, Bifid uvula, Polydactyly, Abnormality of the hand, Hearing impairment, Cleft palate... |
OMIM:607932 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pneumonia, Tachypnea, Anteriorly placed anus, Episodic tachypnea |
ORPHA:26793 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Narrow chest, Short long bone, Knee flexion contracture, Bilateral talipes equinovarus |
OMIM:620454 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Supraumbilical raphe, Bifid sternum |
OMIM:140850 |
| Mercury Poisoning |
|
Interstitial pneumonitis, Dyspnea, Respiratory distress |
ORPHA:330021 |
| Cystinosis, Nephropathic |
|
Rickets, Genu valgum, Hypophosphatemic rickets, Rachitic rosary, Metaphyseal widening |
OMIM:219800 |
| Stt3B-Cdg |
|
Intrauterine growth retardation, Respiratory distress |
ORPHA:370924 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Progressive hearing impairment, Respiratory distress |
OMIM:620166 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Retrognathia, Abnormal earlobe morphology, Respiratory distress, Abnormal dental enamel morpholog... |
ORPHA:2556 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Short nose, Everted upper lip vermilion, Conical tooth, Respiratory distress, Everted lower lip v... |
OMIM:305100 |
| Aneurysm-Osteoarthritis Syndrome |
|
Retrognathia, Osteochondritis dissecans, Dental malocclusion, Intervertebral disk degeneration, K... |
ORPHA:284984 |
| Celiac Disease, Susceptibility To, 1 |
|
Rickets, Steatorrhea, Recurrent aphthous stomatitis, Stomatitis, Osteoporosis, Enamel hypoplasia,... |
OMIM:212750 |
| Treacher Collins Syndrome 2 |
|
Retrognathia, Microtia, Fusion of middle ear ossicles, Conductive hearing impairment, Micrognathi... |
OMIM:613717 |
| Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Respiratory distress, Smooth tongue, Narrow mouth, Bilateral sensorineural... |
ORPHA:1051 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Swollen lip, Respiratory distress |
ORPHA:100057 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Death in childhood, Exertional dyspnea, Respiratory distress, Sensorineural hearing impairment, H... |
OMIM:220110 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Bilateral sensorineural hearing impairment |
OMIM:602722 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Emphysema, Pulmonary fibrosis |
OMIM:620365 |
| Hypercholanemia, Familial 1 |
|
Rickets, Steatorrhea, Fat malabsorption |
OMIM:607748 |
| Hartsfield Syndrome |
|
Hypoplasia of the frontal bone, Low-set ears, Ectrodactyly, Growth delay, Cleft upper lip, Cleft ... |
OMIM:615465 |
| Congenital Enterovirus Infection |
|
Pleural effusion, Respiratory distress |
ORPHA:292 |
| Hypomagnesemia 3, Renal |
|
Rickets, Amelogenesis imperfecta, Genu valgum, Short metacarpal, Enamel hypoplasia, Bowing of the... |
OMIM:248250 |
| Acquired Methemoglobinemia |
|
Vertigo, Dyspnea, Respiratory distress |
ORPHA:464453 |
| Generalized Arterial Calcification Of Infancy |
|
Stippled calcification of the elbow, Mixed hearing impairment, Hypophosphatemic rickets, Fused ce... |
ORPHA:51608 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Respiratory distress, Abnormal intestine morphology, Pneumonia, Interstitial pneumonit... |
ORPHA:37042 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
High palate, Respiratory distress |
OMIM:619272 |
| Loeys-Dietz Syndrome 3 |
|
Retrognathia, Abnormal sternum morphology, Pectus carinatum, Arachnodactyly, Bifid uvula, Joint h... |
OMIM:613795 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Pulmonary edema, Dyspnea, Respiratory distress |
OMIM:115197 |
| Holoprosencephaly 2 |
|
Solitary median maxillary central incisor, Bilateral cleft palate, Aplasia of the premaxilla, Med... |
OMIM:157170 |
| Scimitar Syndrome |
|
Pneumothorax, Bronchogenic cyst, Respiratory distress, Pulmonary sequestration, Pulmonary artery ... |
ORPHA:185 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Autoamputation of digits, Osteomyelitis leading to amputation due to slow h... |
OMIM:256810 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Esophageal varix, Flexion contracture, Respiratory distress |
ORPHA:367 |
| Microphthalmia, Syndromic 3 |
|
Esophageal atresia, Sensorineural hearing impairment, Vertebral hypoplasia, Bilateral sensorineur... |
OMIM:206900 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hearing impairment, Macroglossia, Respiratory tract infection, Respiratory distress |
ORPHA:308552 |
| Craniorachischisis |
|
Sirenomelia, Anal atresia, Bifid sternum |
ORPHA:63260 |
| Common Variable Immunodeficiency |
|
Chronic otitis media, Emphysema, Recurrent bronchitis, Gastrointestinal stroma tumor, Bronchiecta... |
ORPHA:1572 |
| Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Dyspnea, Intermittent hyperventilation, Apneic episodes in infancy, Episodi... |
ORPHA:348 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Emphysema |
ORPHA:634 |
| Q Fever |
|
Abnormal pulmonary interstitial morphology, Respiratory distress, Pleural effusion, Pneumonia, Os... |
ORPHA:781 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Rickets, Fat malabsorption |
OMIM:211600 |
| Cocaine Intoxication |
|
Pneumothorax, Pulmonary edema, Hyperventilation, Respiratory distress, Intestinal perforation, Di... |
ORPHA:90068 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of the dentition, Tooth agenesis, Abnormal dental morphology, Sinusitis, Hypoplasia o... |
ORPHA:238468 |
| Developmental And Epileptic Encephalopathy 68 |
|
Flexion contracture, Respiratory distress |
OMIM:618201 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Pneumonia, Villous atrophy, Gastritis, Anoperineal fistula, Recurrent otitis medi... |
OMIM:619381 |
| Sotos Syndrome |
|
Chronic otitis media, Pectus excavatum, Joint hypermobility, Craniosynostosis, Aganglionic megaco... |
ORPHA:821 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets, Recurrent fractures, Osteomalacia |
OMIM:613388 |
| Pagod Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology, Death in infancy, Pulmonary artery hypopla... |
ORPHA:991 |
| Nocardiosis |
|
Pneumothorax, Emphysema, Pleuritis, Respiratory distress, Pleural effusion, Dyspnea, Pneumonia, O... |
ORPHA:31204 |
| Listeriosis |
|
Pneumonia, Stiff neck, Respiratory distress, Miscarriage, Hearing impairment, Septic arthritis, O... |
ORPHA:533 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Respiratory distress |
ORPHA:79242 |
| Pontine Tegmental Cap Dysplasia |
|
Sensorineural hearing impairment, Ankle clonus, Rib fusion |
OMIM:614688 |
| Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
| Congenital Tracheal Stenosis |
|
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Abnormal ... |
ORPHA:141127 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
| Congenital Laryngeal Web |
|
Respiratory distress |
ORPHA:2374 |
| Cloacal Exstrophy |
|
Abnormal fibula morphology, Abnormal tibia morphology, Absent foot, Intestinal duplication, Anal ... |
ORPHA:93929 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
| Renal Tubular Acidosis, Proximal |
|
Rickets, Osteomalacia |
OMIM:179830 |
| Cystinosis |
|
Rickets |
ORPHA:213 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Bronchiectasis, Recurrent pneumonia, Emphysema, Recurrent bronchopulmonary infections |
OMIM:242700 |
| Thyroid Lymphoma |
|
Dyspnea, Respiratory distress |
ORPHA:97285 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets, Steatorrhea, Fat malabsorption |
ORPHA:79303 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Sensorineural hearing impairment, Bilateral sensorineural hearing impairment, Hearing im... |
OMIM:268315 |
| Pmm2-Cdg |
|
Osteopenia, Long philtrum, Retrognathia, Respiratory distress, Abnormal pinna morphology, Mandibu... |
ORPHA:79318 |
| N-Acetylglutamate Synthase Deficiency |
|
Tachypnea, Respiratory distress |
OMIM:237310 |
| Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla |
OMIM:619632 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Intestinal perforation, Tracheoesophageal fistula, Abnormal pleura morpholo... |
ORPHA:537 |
| Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
| Primary Dystonia, Dyt4 Type |
|
Open mouth, Respiratory distress |
ORPHA:98805 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in childhood, Recurrent lower respiratory tract infections, Respiratory distress, Death in ... |
OMIM:618426 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Pulmonary artery stenosis, Intestinal malrotation, Cervical ribs, Intrauter... |
ORPHA:2255 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pulmonary edema, Respiratory distress, Pleural effusion, Apnea, Macroglossia |
OMIM:261740 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
| Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Bronchitis, Emphysema |
ORPHA:60 |
| Plague |
|
Abnormality of the elbow, Acute infectious pneumonia, Arthritis, Glossitis, Respiratory distress,... |
ORPHA:707 |
| Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Steatorrhea, Fat malabsorption |
OMIM:607765 |
| Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
| Meningioma |
|
Chromosomal breakage induced by ionizing radiation, Neoplasm of the tongue, Tinnitus, Ear pain |
ORPHA:2495 |
| Rodrigues Blindness |
|
Protruding ear, Nasal flaring, Tooth malposition |
OMIM:268320 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Skewfoot, Exaggerated cupid's bow, Downturned corners of mouth, Apnea |
ORPHA:2131 |
| Isolated Arrhinia |
|
Tessier cleft, Respiratory distress, Microtia, Hypoplasia of the nasal bone, Aplasia of the nose |
ORPHA:1134 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:3044 |
| Eisenmenger Syndrome |
|
Exertional dyspnea, Respiratory distress, Vertigo, Clubbing, Aortopulmonary window, Pedal edema |
ORPHA:97214 |
| Ethylene Glycol Poisoning |
|
Pulmonary edema, Gastritis, Abnormal pattern of respiration, Tachypnea, Episodic respiratory dist... |
ORPHA:31826 |
| Nasolacrimal Duct Cyst |
|
Episodic respiratory distress, Paroxysmal dyspnea, Intercostal retractions |
ORPHA:141083 |
| Biotinidase Deficiency |
|
Respiratory distress, Sensorineural hearing impairment, Hearing impairment, Apnea, Hyperventilation |
ORPHA:79241 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Long philtrum, Emphysema, Dyspnea, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Stomatitis, Glossitis, Low-set ears, Smooth philtrum, Intrauterine growth r... |
ORPHA:79282 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Abnormal pulmonary interstitial morphology, Narrow chest, Respiratory distress, Narrow mouth, Mac... |
OMIM:614748 |
| Sarcoidosis |
|
Pneumothorax, Emphysema, Chylothorax, Bone cyst, Parotitis, Abnormal nasal mucosa morphology, Ple... |
ORPHA:797 |
| Inhalational Anthrax |
|
Dyspnea, Respiratory distress |
ORPHA:247257 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Abnormal soft palate morphology, Dyspnea, Abnormal uvula morphology, Intest... |
ORPHA:100050 |
| Neuroblastoma |
|
Pathologic fracture, Respiratory distress |
ORPHA:635 |
| Hemorrhagic Fever-Renal Syndrome |
|
Pulmonary edema, Respiratory distress, Pleural effusion, Dyspnea, Pneumonia |
ORPHA:340 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in adolescence, Death in infancy |
OMIM:615512 |
| Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
| Alström Syndrome |
|
Short finger, Respiratory distress, Abnormality of dental color, Esophageal varix, Hyperostosis f... |
ORPHA:64 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Chondrocalcinosis, Peptic ulcer |
OMIM:600740 |
| Wilson Disease |
|
Chondrocalcinosis, Osteomalacia, Esophageal varix, Osteoporosis, Osteoarthritis, Joint hypermobil... |
OMIM:277900 |
| Distal Renal Tubular Acidosis |
|
Rickets, Reduced bone mineral density, Sensorineural hearing impairment, Enlarged vestibular aque... |
ORPHA:18 |
| Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia |
OMIM:227810 |
| Proboscis Lateralis |
|
Orofacial cleft, Abnormal ethmoid bone morphology, Agenesis of canine, Abnormal facial skeleton m... |
ORPHA:141099 |
| Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Respiratory distress, Anal atresia, Tracheoesophageal fistula, Intestinal ... |
ORPHA:210122 |
| Complete Atrioventricular Septal Defect |
|
Tachypnea, Recurrent pneumonia, Intercostal retractions |
ORPHA:1329 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
| Sepsis In Premature Infants |
|
Enterocolitis, Dyspnea, Nasal flaring |
ORPHA:90051 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Anal stenosis, Short philtrum, Oligodontia, Anal atresia, Microdontia, Hypoplasia of the maxilla,... |
OMIM:180500 |
| Gitelman Syndrome |
|
Respiratory distress, Vertigo, Tinnitus, Gout, Chondrocalcinosis |
ORPHA:358 |
| Primary Fanconi Renotubular Syndrome |
|
Osteomalacia, Pulmonary fibrosis, Hypophosphatemic rickets, Increased susceptibility to fractures |
ORPHA:3337 |
| Tuberous Sclerosis Complex |
|
Pulmonary lymphangiomyomatosis, Respiratory tract infection, Respiratory distress |
ORPHA:805 |
| Aortic Arch Interruption |
|
Exertional dyspnea, Respiratory distress, Aortopulmonary window, Tachypnea, Pedal edema |
ORPHA:2299 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Rickets, Steatorrhea, Osteoporosis, Osteomalacia, Colitis |
ORPHA:309031 |
| Oculopharyngodistal Myopathy 1 |
|
Sensorineural hearing impairment, High palate, Respiratory distress |
OMIM:164310 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Sensorineural hearing impairment, Dyspnea, Apnea, Episodic respiratory distress, Hyperventilation |
ORPHA:255210 |
| Encephalocraniocutaneous Lipomatosis |
|
Bone cyst, Abnormal cartilage morphology, Craniofacial hyperostosis, Osteolysis |
ORPHA:2396 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Infracardiac total anomalous pulmonary venous connection, Exertional dyspnea, Cardiac total anoma... |
ORPHA:99125 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Intrauterine growth retardation, Respiratory distress, Death in infancy |
OMIM:617156 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormality of the pulmonary artery, Emphysema |
ORPHA:363618 |
| Colchicine Poisoning |
|
Respiratory distress |
ORPHA:31824 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Xerostomia, Intestinal perforation, Oral synechia, Abnormality of the anus,... |
ORPHA:95455 |
| Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
| Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia, Chondrocalcinosis, Peptic ulcer |
ORPHA:405 |
| Leptospirosis |
|
Pulmonary hemorrhage, Pleural effusion, Respiratory distress |
ORPHA:509 |
| Kasabach-Merritt Phenomenon |
|
Hypopnea, Respiratory distress |
ORPHA:2330 |
