| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Severe short stature, Short stature, Block vertebrae, Abnormal odont... |
OMIM:277300 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Disproportionate short-trunk short sta... |
OMIM:608681 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Disproportionate... |
OMIM:122600 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short ... |
ORPHA:1797 |
| Femoral-Facial Syndrome |
|
Short femur, Short stature, Cryptorchidism, Abnormal sacrum morphology, Long penis, Rib fusion, A... |
ORPHA:1988 |
| Tarp Syndrome |
|
Atrial septal defect, Meckel diverticulum, Failure to thrive, Rocker bottom foot, Postaxial polyd... |
OMIM:311900 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Short... |
ORPHA:2311 |
| Dysosteosclerosis |
|
Micrognathia, Absent frontal sinuses, Hypoplastic vertebral bodies, Irregular vertebral endplates... |
OMIM:224300 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Short stature, Delayed skeletal maturation, Abnormality of the elbow, Abnormal... |
ORPHA:3268 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect, Hepatomegaly, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Coron... |
OMIM:620076 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... |
OMIM:173800 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Short neck, Vertebral segmentation defect, Rhizomelia, Short stat... |
OMIM:611209 |
| Tarp Syndrome |
|
Finger syndactyly, Failure to thrive, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pe... |
ORPHA:2886 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Hypoplastic labia minora, Abnormal tibia morphology, Rib fusion, Pect... |
ORPHA:64755 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchidism, Distal widening... |
OMIM:602535 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short stature, Short neck, Abnormal rib mo... |
ORPHA:2234 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Atrial septal defect, Short stature, Hypospadias, Small for gestational age, Micro... |
OMIM:257300 |
| Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyl... |
OMIM:258850 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Short stature, Abnormal thorax morphology, Small hand, Azoo... |
ORPHA:1445 |
| Scarf Syndrome |
|
Bifid scrotum, Craniosynostosis, Cryptorchidism, Abnormal form of the vertebral bodies, Pectus ca... |
ORPHA:3134 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Short stature, Abnormal odontoid process morphology, Block vertebrae, Missing r... |
OMIM:613686 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Short stature, Ventricular septal defect, Proximal placement of thumb, Postnatal growth retardati... |
OMIM:620113 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Small scrotum, Multiple pterygia, Symphalangism affecting the phalanges of t... |
ORPHA:2990 |
| Scarf Syndrome |
|
Barrel-shaped chest, Bifid scrotum, Cryptorchidism, Abnormal form of the vertebral bodies, Pectus... |
OMIM:312830 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar... |
OMIM:609052 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Micrognathia, Cryptorchidism, Kyphosis, High palate, Prenat... |
OMIM:618393 |
| Orofaciodigital Syndrome Type 3 |
|
Hamartoma of tongue, Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Lo... |
ORPHA:2752 |
| Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Micromelia, Micrognathia, High, narrow palate, High palate, Clinodac... |
OMIM:122470 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Atrial s... |
OMIM:269150 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Micrognathia, High, narrow palate, Enlarged thorax, Inflammation of the la... |
ORPHA:99413 |
| Turner Syndrome |
|
Bicuspid aortic valve, Micrognathia, High, narrow palate, Enlarged thorax, Inflammation of the la... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Bicuspid aortic valve, Micrognathia, High, narrow palate, Enlarged thorax, Inflammation of the la... |
ORPHA:99228 |
| Monosomy X |
|
Bicuspid aortic valve, Micrognathia, High, narrow palate, Enlarged thorax, Inflammation of the la... |
ORPHA:99226 |
| Momo Syndrome |
|
Short stature, Large for gestational age, Obesity, Femoral bowing, High palate, Short sternum, Co... |
ORPHA:2563 |
| Ulbright-Hodes Syndrome |
|
Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Abnormal penis morphology, ... |
ORPHA:3404 |
| Ethanolaminosis |
|
Death in infancy, Cardiomegaly |
OMIM:227150 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Short stature, Spinal instability |
OMIM:251250 |
| Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Short thorax, Enlarged thorax, Narrow pelvis bone, Absent or minimally ... |
ORPHA:66637 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Clitoral hypoplasia, Short palm, Thoracic hemivertebrae, Micropenis, D... |
OMIM:268310 |
| Momo Syndrome |
|
High palate, Short sternum, Obesity |
OMIM:157980 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Missing ribs, Postna... |
OMIM:206900 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Iliac crest serration, Short stature, Micromelia, Cardiomegaly, Wide distal fem... |
OMIM:613320 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Turnpenny-Fry Syndrome |
|
Prominent interphalangeal joints, Pectus carinatum, Long thorax, High palate, Narrow chest, Atria... |
OMIM:618371 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn... |
ORPHA:1801 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Absent external genitalia, Short neck, Rib fusio... |
OMIM:271520 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short stature, Short neck, Cryptorchidism,... |
ORPHA:2332 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect, Bicornuate uterus, Short sternum, Intestinal malrotation |
OMIM:222448 |
| Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Abnormal form of th... |
ORPHA:628 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Three M Syndrome 1 |
|
Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Spina ... |
OMIM:273750 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Short neck, Abnormal rib morphology, Azoospermia, Vertebral segmentation defect, B... |
ORPHA:2578 |
| Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Short stature, Short neck, Cryptorchidism, Epispadias, Delayed skel... |
OMIM:148050 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Male hypogonadism, Abnormality of the cervical spine, Hypergonadotropic h... |
OMIM:307500 |
| Heart Defects-Limb Shortening Syndrome |
|
Accelerated skeletal maturation, Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate... |
ORPHA:1354 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Short stature, Short neck, Pectus excavatum, Hyperlord... |
ORPHA:2522 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Obesity, Bell-shaped thorax, Short ... |
OMIM:615633 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Large for gestational age, Hemivertebrae, Na... |
OMIM:213980 |
| Cerebrofaciothoracic Dysplasia |
|
Short stature, Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest... |
ORPHA:1394 |
| Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri... |
OMIM:617405 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Abnormal ... |
ORPHA:2635 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Atrial... |
OMIM:312870 |
| Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Vert... |
OMIM:108720 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal... |
ORPHA:93351 |
| Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Short stature, Toe syndactyly, Mesoaxial hand polydactyly... |
OMIM:146510 |
| Coffin-Siris Syndrome 1 |
|
Prominent interphalangeal joints, High palate, Atrial septal defect, Clinodactyly of the 5th fing... |
OMIM:135900 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... |
OMIM:178110 |
| Aarskog-Scott Syndrome |
|
Short palm, Finger syndactyly, Genu recurvatum, Short stature, Camptodactyly of finger, Short nec... |
ORPHA:915 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Camptodac... |
OMIM:619751 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Micropenis, Dysplastic sacrum, Sh... |
OMIM:134780 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Short stature, Bifid distal phalanx of the thumb, Overweight, Triangular shaped di... |
ORPHA:370010 |
| Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Cryptorchidism, Abnormal r... |
ORPHA:1703 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... |
ORPHA:1836 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hemivertebrae, Pectus carinatum, Abnormal sternum morphology, Ve... |
ORPHA:2911 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing... |
ORPHA:1436 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Recurrent fractures, Cryptorchidism, Abnormal rib morphology, Joint hyperfle... |
ORPHA:2772 |
| 3M Syndrome |
|
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... |
ORPHA:2616 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of... |
ORPHA:1507 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Pectus carinatum, Tibial bowin... |
ORPHA:93315 |
| Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Short stature, Small for gestational age, Short neck, Hemivertebr... |
OMIM:615583 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Hypogonadotropic hypogonadism |
ORPHA:238722 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short thorax, Short long bone, Vertebral segmentation defect |
OMIM:618845 |
| Fanconi Anemia, Complementation Group O |
|
Death in infancy, Short stature, Miscarriage, Proximal placement of thumb, Absent thumb, External... |
OMIM:613390 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Rib fusion, Obesity, Hand polydactyly, Scoliosis, Failure to thrive, Abnormal v... |
ORPHA:261197 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Vertebral fusion, Short stature, Hypospadias, Short hallux... |
OMIM:194190 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short stature, Short neck, Tapered finger, Multiple joint d... |
OMIM:618395 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus c... |
OMIM:224690 |
| Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Failure to thrive |
OMIM:614688 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
| Gorlin Syndrome |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Arachnodactyly, Cryptorchidism, Hemivertebrae, V... |
ORPHA:377 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Abnormal vertebral morphology, Hy... |
ORPHA:280 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Short stature, Postaxial hand polydactyly, Short th... |
ORPHA:474 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
| Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... |
OMIM:177170 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... |
ORPHA:239 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Beaded ribs, Micrognathia, Cardiomegaly, Micropenis, Hypospadias, Decreased fibular diameter, Sho... |
OMIM:616897 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... |
OMIM:259440 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small scrotum, Short stature, External genit... |
ORPHA:97360 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Short stature, Fused cervical vertebrae, Short middle phalanx of finger,... |
OMIM:309620 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Small for gestational age, Micrognathia, Postnatal growth retardation, Cryptorchid... |
ORPHA:96184 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Large for gestational age, Bilateral cryptorchidism, Tapered finger, ... |
ORPHA:544488 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly |
OMIM:214300 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t... |
ORPHA:2790 |
| Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Pectus carinatum, Tib... |
OMIM:223800 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Growth delay, Clinodactyly of the 5th finger,... |
OMIM:244600 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Death in childhood, Neonatal death, Hypertrophic cardiomyopathy, ... |
OMIM:614096 |
| Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... |
OMIM:313400 |
| Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Postnatal g... |
ORPHA:263508 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... |
OMIM:608728 |
| Juberg-Hayward Syndrome |
|
Severe short stature, Hypospadias, Toe syndactyly, Short thumb, Abnormality of the elbow, Abnorma... |
ORPHA:2319 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Lateral clavicle h... |
OMIM:171480 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... |
OMIM:620135 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Short stature, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-sha... |
OMIM:157800 |
| Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Short stature, Abnormal rib morphology, Decreased sk... |
ORPHA:2097 |
| Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Postnatal growth retardation, Precoci... |
OMIM:304050 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short stature, Short neck, Metatarsus ... |
ORPHA:3082 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Precocious puberty, Rib fusion, Small hand, Hip dysplasia, Supernu... |
ORPHA:50 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin... |
ORPHA:313892 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... |
OMIM:150250 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... |
OMIM:305620 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal thorax morphology, High palate, Death in child... |
OMIM:269920 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Absent radius, Aplasia/hypo... |
ORPHA:3320 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Renpenning Syndrome |
|
Severe short stature, Hypospadias, Cachexia, Joint stiffness, Pectus excavatum, Abnormal thumb mo... |
ORPHA:3242 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Hallux valgus, Thoracic scoliosis, Short neck, Cryptorchidism, Osteoarthritis, Genera... |
OMIM:618000 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Vaginal hernia, Short stature, Elbow dislocation, Kyphosis, Postaxial hand poly... |
ORPHA:2916 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Short stature,... |
OMIM:151200 |
| Craniodiaphyseal Dysplasia |
|
Diaphyseal thickening, Abnormal rib morphology, Short stature |
ORPHA:1513 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Abnormal rib morphology, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus,... |
OMIM:601076 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Hypoplastic ilia... |
OMIM:187600 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Beaded rib... |
OMIM:166210 |
| Desbuquois Dysplasia 2 |
|
Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx of finger, ... |
OMIM:615777 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Short neck, Narrow chest, Neonatal short-limb short stature, Radial bowing, Rhizomelia, Dumbbell-... |
OMIM:151210 |
| Silver-Russell Syndrome 3 |
|
Syndactyly, Short stature, Unilateral cryptorchidism, Elbow contracture, Small for gestational ag... |
OMIM:616489 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Bilateral cryptorchidism, Cryp... |
OMIM:617796 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased ... |
ORPHA:2970 |
| Caudal Regression Syndrome |
|
Missing ribs, Joint stiffness, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Abnormal iliac w... |
ORPHA:3027 |
| Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Short stature, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Flat... |
OMIM:617159 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Clinodactyly of the 5th finger, Short stature, Hypospadias, Cryptorchidism, ... |
ORPHA:1606 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Thin clavicles,... |
ORPHA:93324 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
| Lamb-Shaffer Syndrome |
|
Mild postnatal growth retardation, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Sc... |
ORPHA:530983 |
| Cantu Syndrome |
|
Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomegaly, Pericardial effusion... |
OMIM:239850 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... |
OMIM:210720 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Short stature, Small for gestational ag... |
OMIM:610443 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:606612 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... |
OMIM:218600 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Small for gestational age, Micrognathia, Po... |
ORPHA:397590 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Ventricular hypertrophy, Congenital hip dislocation, Left atrial enlargement, Kyph... |
OMIM:300280 |
| Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ... |
ORPHA:392 |
| Zttk Syndrome |
|
Short stature, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae, Small ... |
OMIM:617140 |
| Hypophosphatasia |
|
Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Failure to thrive... |
ORPHA:436 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis mo... |
ORPHA:2643 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Death in infancy, Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchidism... |
OMIM:300219 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomelia, Shor... |
OMIM:616229 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Short stature, Hyperlordosis, Delayed skeleta... |
ORPHA:3068 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Cryptorchidism, Kyphosis, Spinal canal stenosis, Fused ... |
ORPHA:1724 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs... |
OMIM:300863 |
| Meier-Gorlin Syndrome 3 |
|
Small scrotum, Micrognathia, Coxa vara, Patellar hypoplasia, Narrow chest, Micropenis, Genu varum... |
OMIM:613803 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Short stature, Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral... |
OMIM:616549 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Short stature, Hypospadias, Arachnodactyly, Pectus excavatum, Cryptorchidism, K... |
ORPHA:96169 |
| Three M Syndrome 2 |
|
Scapular winging, Severe short stature, Short stature, Lumbar hyperlordosis, Small for gestationa... |
OMIM:612921 |
| Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
| Pallister-Hall Syndrome |
|
Small scrotum, Large for gestational age, Hemivertebrae, Micropenis, Aplasia/hypoplasia of the ut... |
ORPHA:672 |
| Acrocapitofemoral Dysplasia |
|
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... |
OMIM:607778 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morpho... |
ORPHA:1486 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Short stature, Growth delay, Camptodactyly, Cervical C2/C3 vertebral fusion, Intrauterine growth ... |
OMIM:617333 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Ovarian fibroma, Down-sloping shoulders, Kyp... |
OMIM:109400 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Weight loss, Cardiomegaly |
ORPHA:85447 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Short stature, Short neck, Hyperlordosis, Kyphosis, ... |
ORPHA:582 |
| Mulibrey Nanism |
|
Hepatomegaly, Short stature, Cardiomegaly, Absent frontal sinuses, Hypoplastic frontal sinuses, M... |
OMIM:253250 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Failure to thrive, Hypospadias, Tarsal synostosis, Camptodactyly ... |
ORPHA:90652 |
| Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short stature, Cryptorchidism, ... |
OMIM:139210 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Osteolysis, Fused cervical vertebrae, Jo... |
OMIM:612852 |
| Achondrogenesis Type 1B |
|
Severe short stature, Short neck, Abnormal enchondral ossification, Short thorax, Abnormal rib mo... |
ORPHA:93298 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone, Abnor... |
ORPHA:1506 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Short stature, Short neck, Pectus excavatum, Cryptorchidism, Kyphosis, Sclerosi... |
OMIM:130720 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Joint hypermobility, Cryptorchidism, Glandular hypospadias, Thin ribs, Blind vagin... |
ORPHA:456328 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Beaded ribs, Short neck, Abnormal hand bone ossification,... |
OMIM:200600 |
| Cat-Eye Syndrome |
|
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology, Short stature |
ORPHA:195 |
| Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... |
OMIM:253000 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Syndactyly, Down-sloping shoulders, Proportionate short stature, Pectus excavat... |
OMIM:227330 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Micrognathia, Cardiomegaly, Multiple joint dislocation, Pectus carinatum, ... |
OMIM:245600 |
| Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia ... |
OMIM:215140 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overlapping fingers, Overriding aorta, Ventricular septal defect, Micrognathi... |
OMIM:617022 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Death in infancy, Micrognathia, Postnatal growth retardation, Cryptorchid... |
OMIM:619135 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short stature, Missing ribs, Bilateral cryptorchidism, Coronal hypospadias, Esophageal atresia, T... |
OMIM:619859 |
| Melnick-Needles Syndrome |
|
Bowing of the long bones, Short stature, Delayed cranial suture closure, Coxa valga, Short thorax... |
ORPHA:2484 |
| Hemochromatosis, Type 1 |
|
Arthropathy, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia... |
OMIM:235200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Kyphoscoliosis, Cardiomegaly |
OMIM:300886 |
| Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Proportionate short stature, Delayed closure of the anterior fontanelle, Thin cla... |
OMIM:244460 |
| Osteogenesis Imperfecta, Type Xv |
|
Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra... |
OMIM:615220 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical ve... |
OMIM:609053 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Flexion contracture, Femoral bowing, Abnormal ovarian morphology, Narrow ches... |
ORPHA:95699 |
| Ellis-Van Creveld Syndrome |
|
Hypospadias, Hypoplastic iliac wing, Cryptorchidism, Epispadias, Capitate-hamate fusion, Postaxia... |
OMIM:225500 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida occulta, Short phala... |
ORPHA:1826 |
| Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... |
ORPHA:2876 |
| Mucolipidosis Ii Alpha/Beta |
|
Micrognathia, Cardiomegaly, Metaphyseal widening, Death in childhood, Hepatomegaly, Thoracolumbar... |
OMIM:252500 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Abnormal metacarpophalangeal joint morphology, Hepatomegaly, Hypogonadotropic hypogo... |
ORPHA:465508 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Short neck, Hemivertebrae, Pectus carinatum, Hypoplasia of the ulna... |
ORPHA:958 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Obesit... |
ORPHA:2180 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Ambiguous genitalia, Abnormal clavicle morphology, Abnormal rib morphology, Hypospadias |
ORPHA:276422 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Craniosynostosis, Split hand, Abnormal rib morphology, Intraute... |
ORPHA:2145 |
| Congenital Myopathy 8 |
|
High palate, Scoliosis, Cardiomegaly |
OMIM:618654 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Failure to thrive, Cryptorchidism, Delayed skeletal maturation, Abnormal ... |
ORPHA:52 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Kyphosis, Abno... |
ORPHA:2050 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Abnormal external genitalia, Hypospadias, Camptodactyly of finger, Delayed clos... |
OMIM:607872 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Thickened ribs, Cardiomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetr... |
OMIM:252920 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Death in infancy, Failure to thrive in infancy, Cardiomegaly, Death in childhood |
OMIM:619064 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... |
OMIM:602196 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Short neck, Abnormal rib morphology... |
ORPHA:2021 |
| Cooper-Jabs Syndrome |
|
Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib m... |
ORPHA:1488 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ca... |
ORPHA:3472 |
| Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... |
OMIM:101200 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
| White Forelock With Malformations |
|
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... |
ORPHA:2475 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
| Trisomy 13 |
|
Displacement of the urethral meatus, Cryptorchidism, Kyphosis, Postaxial hand polydactyly, Abnorm... |
ORPHA:3378 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Intrauterine growth retardation, Failure to thrive in infancy, Cardiomegaly |
ORPHA:858 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Failure to thrive in infancy, Arachnodactyly, Proportionate short stature, ... |
ORPHA:500150 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,... |
ORPHA:1517 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal wi... |
OMIM:271640 |
| Fucosidosis |
|
Barrel-shaped chest, Hepatomegaly, Absent/hypoplastic paranasal sinuses, Cervical platyspondyly, ... |
OMIM:230000 |
| Cartilage-Hair Hypoplasia |
|
Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal form of the v... |
ORPHA:175 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
| Cleidocranial Dysplasia |
|
Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased sku... |
ORPHA:1452 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, Hypermobility of int... |
ORPHA:508498 |
| Mosaic Trisomy 8 |
|
Short stature, Camptodactyly of finger, Short neck, Cryptorchidism, Limitation of joint mobility,... |
ORPHA:96061 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Phocomelia, Clinodactyly of ... |
OMIM:274000 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Cardiomegaly, Abnormal thumb morphology, Protruding tongue, Abnormal atrioventric... |
ORPHA:324410 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... |
ORPHA:2759 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... |
ORPHA:3258 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
External genital hypoplasia, Micrognathia, Large for gestational age, Hemivertebrae, Tibial bowin... |
ORPHA:96334 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Intrauterine growth retardation, H... |
OMIM:614702 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Hemivertebrae, Knee flexion contracture, Cutaneous finge... |
OMIM:151050 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Short stature, Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta... |
OMIM:619227 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Short stature, Rhizomelia, ... |
OMIM:613848 |
| Schwartz-Jampel Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Increased bone mineral densit... |
ORPHA:800 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
| Vacterl/Vater Association |
|
Bifid scrotum, Finger syndactyly, Hypoplasia of penis, Abnormal intervertebral disk morphology, H... |
ORPHA:887 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Pectus excavatum, S... |
OMIM:263750 |
| Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Epispadias, Clitoral hypoplasia, Clinodactyly of the 5th finger, Hypospadias... |
ORPHA:2554 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly... |
ORPHA:959 |
| Myhre Syndrome |
|
Abnormal penis morphology, Brachydactyly, Severe short stature, Hypospadias, External genital hyp... |
ORPHA:2588 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal rib morphology, ... |
ORPHA:3035 |
| Shashi-Pena Syndrome |
|
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... |
OMIM:617190 |
| Septopreoptic Holoprosencephaly |
|
Precocious puberty, Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Mitral stenosis, Aplasia/Hypoplasia of the sternum, Left ventricular hyper... |
ORPHA:1686 |
| X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractur... |
OMIM:610915 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... |
OMIM:613091 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short stature, Short neck, Missing ribs, Abnormal rib morphology, Abnorm... |
ORPHA:1834 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Arachnodactyly, Overlapping toe, Postnatal growth retardation, Cryptorchidism, Co... |
ORPHA:83617 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Finger syndactyly, Small scrotum, Toe syndactyly, Joint stiffness, Cryptorchidism,... |
ORPHA:1300 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Elbow contracture, Pectus excavatu... |
OMIM:617137 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Anteriorly displaced ... |
OMIM:276820 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Cardiomegaly |
OMIM:613576 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Severe short stature, Small scrotum, Camptodactyly of... |
ORPHA:2215 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology,... |
ORPHA:2519 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... |
ORPHA:249 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Arachnodactyly, Cardiomegaly, Pectus excavatum, Thin ribs, Thin metatarsal cor... |
ORPHA:2463 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:304120 |
| Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Hypoplasia of penis, Congenital hip dislocation, Hypospadias, Camptodactyly of ... |
ORPHA:373 |
| Catel-Manzke Syndrome |
|
Joint dislocation, Micrognathia, Pectus carinatum, Glossoptosis, High palate, Clinodactyly of the... |
OMIM:616145 |
| Acrorenal-Mandibular Syndrome |
|
Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Bicornuate uterus, Split foot, U... |
OMIM:200980 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal... |
OMIM:609945 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Hepatomegaly... |
OMIM:602782 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Short stature, Ventricular septal defect, Cardiomegaly, Pericardial effusi... |
ORPHA:363705 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Absent thumb, Absent radius, Short... |
OMIM:607323 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... |
OMIM:211350 |
| Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Atri... |
OMIM:117650 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Missing ribs, Aplasia/Hypoplasia of the distal pha... |
ORPHA:1647 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Clitoral hypertrophy, Abnormal small intestine morphology, Hypos... |
OMIM:219000 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vert... |
ORPHA:3109 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
| Antley-Bixler Syndrome |
|
Arachnodactyly, Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, ... |
ORPHA:83 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Cardiomegaly, Cryptorchidism, Pectus carina... |
OMIM:618143 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Epiphyseal stippling, Cardiomyopathy |
OMIM:256550 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Short stature, Delayed ... |
OMIM:303600 |
| Noonan Syndrome 1 |
|
Micrognathia, High, narrow palate, Abnormal sternum morphology, High palate, Atrial septal defect... |
OMIM:163950 |
| Trisomy 1Q |
|
Small scrotum, Arachnodactyly, Camptodactyly of finger, Toe syndactyly, Cryptorchidism, Preaxial ... |
ORPHA:261344 |
| Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal femur mor... |
ORPHA:666 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... |
ORPHA:93317 |
| Chops Syndrome |
|
Short stature, Cryptorchidism, Obesity, Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachyda... |
OMIM:616368 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Micrognathia, Splenomegaly, Hepatosplenomegaly, Decreased body weight... |
OMIM:608013 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Pterygium, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, ... |
OMIM:618052 |
| Mogs-Cdg |
|
Hepatomegaly, Thoracic scoliosis, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, ... |
ORPHA:79330 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... |
OMIM:306955 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopat... |
OMIM:212140 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... |
ORPHA:1120 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... |
OMIM:216340 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Missing ribs, Cryptorchidism, Abnormal rib morphology, Aplasia/Hyp... |
ORPHA:3301 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Posterior rib fusion, Bicornuate uterus, Neonatal death, Butterfly vertebrae |
OMIM:265380 |
| Thakker-Donnai Syndrome |
|
Short neck, Hemivertebrae, Rectovaginal fistula, Cervical C2/C3 vertebral fusion, Intrauterine gr... |
ORPHA:1780 |
| Vater/Vacterl Association |
|
Preaxial polydactyly, Abnormal sternum morphology, Triphalangeal thumb, Abnormal vertebral morpho... |
OMIM:192350 |
| Sandhoff Disease |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Impotence, Death in childhood |
OMIM:268800 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Short neck, Pectus ex... |
OMIM:613458 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphosco... |
OMIM:300967 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... |
ORPHA:555874 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Short neck, Limitation of j... |
ORPHA:93473 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Scoliosis, Cardiomegaly |
ORPHA:3137 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hepatomegaly, Failure to thrive, Hypoplastic scapulae, Short stature, Camptodactyl... |
OMIM:256040 |
| Trisomy 18 |
|
Short stature, Camptodactyly of finger, Cachexia, Cryptorchidism, Delayed skeletal maturation, Po... |
ORPHA:3380 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyopathy, Clinoda... |
ORPHA:158687 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Death in infancy, Hepatomegaly, Tapered toe, Tapered finger, Cardiomegaly, Long fingers... |
OMIM:608836 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Hypoplasia... |
ORPHA:233 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Micrognathia, Postnatal growth retardation, Precocious p... |
ORPHA:96191 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Cervical C5/C6 vertebrae fusi... |
ORPHA:87 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Wide cranial sutures, Crumpled long bones, Rhizomelia, Short ... |
OMIM:610682 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Tetralogy of Fallot, Patent forame... |
OMIM:601005 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Prominent metopic ridge, Short stature, Ulnar deviation of the wrist, Microgna... |
ORPHA:97297 |
| Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Cardiomegaly, Secundum atrial se... |
OMIM:300855 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cachexia, Cardiomegaly |
ORPHA:42 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... |
ORPHA:268882 |
| Beck-Fahrner Syndrome |
|
High palate, Hip dysplasia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Death in infancy, Necrotizing enterocolitis, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Kyphosis, Anterior beaking of lumbar vertebrae, Failure to thrive |
ORPHA:349 |
| Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Bowing of the long bones, Abnormal thorax morphology, Abnormal rib... |
ORPHA:1318 |
| Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac bones, Short thorax, Abnor... |
ORPHA:3003 |
| Radio-Renal Syndrome |
|
Severe short stature, Short neck, Abnormality of the elbow, Abnormal rib morphology, Hypoplasia o... |
ORPHA:3015 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Scapular winging, Limited elbow movement, Hyperlordosis, Cardiomegaly, Limited knee flexion/exten... |
ORPHA:268 |
| Monosomy 9Q22.3 |
|
Ovarian fibroma, Accelerated skeletal maturation, Pectus excavatum, Short neck, Kyphosis, Large f... |
ORPHA:77301 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Short fourth metatarsal, Cardiomegaly |
OMIM:266500 |
| Craniorachischisis |
|
Bifid sternum, Anal atresia |
ORPHA:63260 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Hepatomegaly, Cardiomegaly, Avascular necrosis of the capital femor... |
ORPHA:581 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Micrognathia, Cardiomegaly, Rectal prolapse, Abnormal... |
ORPHA:904 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodi... |
ORPHA:818 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Aspergillosis |
|
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology, Oste... |
ORPHA:1163 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... |
ORPHA:85451 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Short stature, Ventricular septal defect, Micrognathia, Cardiomegaly, Dilated cardi... |
OMIM:614921 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Impotence, Cardiomegaly |
OMIM:105210 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Intrauterine growth ret... |
OMIM:617713 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly |
ORPHA:99931 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... |
ORPHA:439 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Short stature, Hypospadias, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of... |
ORPHA:444077 |
| Pagod Syndrome |
|
Abnormal clavicle morphology, Short stature, Abnormal rib morphology, Abnormal morphology of fema... |
ORPHA:991 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Charge Syndrome |
|
Bifid scrotum, Short stature, Hypogonadotropic hypogonadism, Postnatal growth retardation, Crypto... |
ORPHA:138 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... |
ORPHA:3427 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Cardiomegaly |
OMIM:618838 |
| Elsahy-Waters Syndrome |
|
Bifid scrotum, Hypospadias, Pectus excavatum, Bilateral cryptorchidism, Shortening of all phalang... |
OMIM:211380 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Short stature, Osteomalacia, Recurrent fractures, Joint stiffness, Cryptorchidism, Kyphosis, Abno... |
ORPHA:534 |
| Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly ... |
ORPHA:857 |
| Monosomy 9P |
|
Hypospadias, Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Cryptorchi... |
ORPHA:261112 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Small hand, Short f... |
ORPHA:488434 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pectus excavatum, Hepatosplenomegaly, Death ... |
OMIM:618278 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Pseudo-Torch Syndrome 3 |
|
Death in infancy, Cardiomegaly |
OMIM:618886 |
| Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Mitral valve calcification, Short stature, Decreased body we... |
OMIM:182250 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Arachnodactyly, Cardiomegaly, High, narrow palate, Abnormal sternum morpho... |
ORPHA:91387 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal preputium morphology, Abnorma... |
ORPHA:2907 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Hypertrophic cardiomyopat... |
ORPHA:308552 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Priapism, Cardiomegaly |
OMIM:603903 |
| Dextrocardia |
|
Abnormal reproductive system morphology, Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Bone pain, Abnormal rib morpholo... |
ORPHA:667 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Hyperlordosis, Cardiomegaly, Macroglossia, Scoliosis, Left ventricular hypertrophy,... |
ORPHA:365 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Prominent metopic ridge, Cardiomegaly, Cryptorchi... |
OMIM:130650 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Hypogonadotropic hypogonadism, Down-sloping shoulders, External genital h... |
OMIM:214800 |
| Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous... |
ORPHA:95430 |
| Abetalipoproteinemia |
|
Hepatomegaly, Kyphoscoliosis, Cardiomegaly, Steatorrhea, Fat malabsorption, Failure to thrive |
ORPHA:14 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Failure to thrive in infancy, Osteomalacia, Stippled calcification of th... |
ORPHA:51608 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Chronic gastritis, Hypospadias, Left atrial enlargement, Ventricular septal defect,... |
OMIM:619991 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, High, narrow palate, Cardiomyopathy, Abnormal myocardium morphology |
ORPHA:228308 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Prominent metopic ridge, Cardiomegaly, Large for gestational age, Cryptorchidism, S... |
ORPHA:116 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Aicardi-Goutières Syndrome |
|
Short stature, Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Arthritis, Scoliosi... |
ORPHA:51 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Polycystic ovaries, Failure ... |
ORPHA:137675 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Failure to thrive, Butterfly vert... |
OMIM:118450 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Phimosis, Flexion contracture, Abnormal rib morpholog... |
ORPHA:2908 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Short stature, Cardiomegaly |
OMIM:208000 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Macroglossia, Cardiomegaly |
OMIM:232300 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Growth delay, Abnormal cardiac septum morphology, Atrial... |
ORPHA:980 |
| Craniofacial Microsomia 1 |
|
Block vertebrae, Partial duplication of thumb phalanx, Hemivertebrae, Genu valgum, Cervical ribs,... |
OMIM:164210 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ... |
ORPHA:75565 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Adermatoglyphia |
|
Clubbing |
OMIM:136000 |
| Basan Syndrome |
|
Cutaneous syndactyly of toes, Flexion contracture of digit, Tapered finger |
OMIM:129200 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Camptodactyly of finger |
ORPHA:1658 |
| Huriez Syndrome |
|
Tapered finger |
OMIM:181600 |
| Huriez Syndrome |
|
|
ORPHA:384 |
