| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... |
OMIM:609129 |
| Deafness, Autosomal Dominant 85 |
|
Cochlear nerve hypoplasia, Sensorineural hearing impairment |
OMIM:620227 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
| Auditory Neuropathy, Autosomal Dominant 3 |
|
Hearing impairment, Abnormal speech discrimination |
OMIM:619832 |
| Deafness-Oligodontia Syndrome |
|
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment |
ORPHA:3230 |
| Deafness, Autosomal Recessive 84A |
|
Abnormal vestibular function, Hearing impairment |
OMIM:613391 |
| Deafness, Autosomal Recessive 1B |
|
Abnormal vestibular function, Hearing impairment |
OMIM:612645 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... |
ORPHA:93356 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... |
OMIM:156500 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... |
OMIM:602111 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Metaphyseal Anadysplasia |
|
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... |
ORPHA:1040 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
| Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Scoliosis, Tibial torsion |
OMIM:188800 |
| Deafness, Autosomal Recessive 25 |
|
Abnormal vestibular function, Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... |
ORPHA:2777 |
| Deafness, Autosomal Dominant 52 |
|
Hearing impairment |
OMIM:607683 |
| Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
| Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
| Deafness, Autosomal Dominant 24 |
|
Hearing impairment |
OMIM:606282 |
| Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
| Deafness, Autosomal Recessive 106 |
|
Hearing impairment |
OMIM:617637 |
| Deafness, Autosomal Recessive 107 |
|
Hearing impairment |
OMIM:617639 |
| Deafness, Autosomal Dominant 15 |
|
Hearing impairment |
OMIM:602459 |
| Deafness, Autosomal Dominant 89 |
|
Hearing impairment |
OMIM:620284 |
| Deafness, Autosomal Dominant 88 |
|
Hearing impairment |
OMIM:620283 |
| Deafness, Autosomal Recessive 96 |
|
Hearing impairment |
OMIM:614414 |
| Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
| Deafness, Autosomal Dominant 54 |
|
Hearing impairment |
OMIM:615649 |
| Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
| Deafness, Autosomal Dominant 51 |
|
Hearing impairment |
OMIM:613558 |
| Deafness, Autosomal Recessive 93 |
|
Hearing impairment |
OMIM:614899 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... |
ORPHA:3344 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... |
ORPHA:3269 |
| Weismann-Netter Syndrome |
|
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Squared iliac bones, Scoliosis, Kyphos... |
OMIM:112350 |
| Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Radioulnar synostosis, Limited pronation/supination of forearm |
OMIM:179300 |
| Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Micromelia, Metaphyseal spurs, Posterior rib cupping, Irregular epiphyses, Lumbar ... |
OMIM:608728 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... |
OMIM:300106 |
| Deafness, Autosomal Dominant 11 |
|
Vertigo, Abnormal vestibular function, Bilateral sensorineural hearing impairment |
OMIM:601317 |
| Deafness, Autosomal Recessive 2 |
|
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600060 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho... |
ORPHA:93307 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ... |
OMIM:616583 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Gnathodiaphyseal Dysplasia |
|
Broad jaw, Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of lo... |
ORPHA:53697 |
| Leri-Weill Dyschondrosteosis |
|
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... |
OMIM:127300 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... |
OMIM:616515 |
| Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Structural fo... |
ORPHA:564003 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... |
OMIM:200700 |
| Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly, Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femor... |
OMIM:619598 |
| Deafness, Autosomal Recessive 67 |
|
Bilateral sensorineural hearing impairment, Abnormal vestibular function, Sensorineural hearing i... |
OMIM:610265 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
| Deafness, Autosomal Dominant 75 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment |
OMIM:618778 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Flat occiput, Frontal bossing, Failu... |
OMIM:600081 |
| Deafness, Autosomal Recessive 31 |
|
Absent vestibular function, Sensorineural hearing impairment |
OMIM:607084 |
| Atelosteogenesis, Type Iii |
|
Rhizomelia, Tombstone-shaped proximal phalanges, Cervical kyphosis, Radial bowing, Sandal gap, Kn... |
OMIM:108721 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia, Mesomelic arm... |
OMIM:249710 |
| Deafness, Autosomal Recessive 35 |
|
Abnormal ear morphology, Sensorineural hearing impairment |
OMIM:608565 |
| Deafness, Autosomal Recessive 89 |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:613916 |
| Deafness, Autosomal Recessive 84B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614944 |
| Deafness, Autosomal Recessive 18B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614945 |
| Brachydactyly Type A1 |
|
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... |
ORPHA:93388 |
| Pyle Disease |
|
Platyspondyly, Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of... |
OMIM:265900 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose |
OMIM:155050 |
| Deafness, Autosomal Recessive 94 |
|
Bilateral sensorineural hearing impairment, Abnormal vestibular function |
OMIM:618434 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur |
OMIM:600121 |
| Deafness, Autosomal Dominant 81 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619500 |
| Deafness, Autosomal Recessive 7 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600974 |
| Deafness, Autosomal Dominant 40 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:616357 |
| Deafness, Autosomal Dominant 74 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618140 |
| Deafness, Autosomal Recessive 110 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618094 |
| Deafness, Autosomal Dominant 71 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617605 |
| Deafness, Autosomal Dominant 53 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:609965 |
| Deafness, Autosomal Dominant 25 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:605583 |
| Deafness, Autosomal Recessive 117 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619174 |
| Deafness, Autosomal Dominant 56 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:615629 |
| Deafness, Autosomal Dominant 66 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:616969 |
| Deafness, Autosomal Recessive 1A |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:220290 |
| Deafness, Autosomal Recessive 113 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618410 |
| Deafness, Autosomal Recessive 99 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618481 |
| Auditory Neuropathy, Autosomal Dominant 2 |
|
Abnormal speech discrimination, Sensorineural hearing impairment |
OMIM:620384 |
| Parastremmatic Dwarfism |
|
Genu valgum, Bowing of the long bones, Short neck, Scoliosis, Kyphosis |
OMIM:168400 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Carious teeth, Fibular bowing, Flat occiput, Rickets, Bulging of... |
OMIM:277440 |
| Scoliosis, Isolated, Susceptibility To, 1 |
|
Scoliosis |
OMIM:181800 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino... |
OMIM:613330 |
| Blount Disease, Infantile |
|
Abnormality of the proximal tibial epiphysis, Genu varum |
OMIM:188700 |
| Brachyolmia Type 1, Toledo Type |
|
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... |
OMIM:271630 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Achondroplasia |
|
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Femoral bowing, Limited elbo... |
OMIM:100800 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpa... |
OMIM:619638 |
| Deafness, Autosomal Recessive 30 |
|
Progressive sensorineural hearing impairment, Progressive hearing impairment |
OMIM:607101 |
| Metaphyseal Dysplasia, Spahr Type |
|
Metaphyseal sclerosis, Genu valgum, Bowing of the legs, Metaphyseal chondrodysplasia, Metaphyseal... |
OMIM:250400 |
| Deafness, Autosomal Dominant 44 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:607453 |
| Deafness, Autosomal Dominant 86 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:620280 |
| Deafness, Autosomal Recessive 100 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618422 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs, Platyspondyly, Short femoral neck, Knee dislocation, Joint hypermobility, Narrow verte... |
OMIM:618395 |
| Deafness, Autosomal Recessive 63 |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:611451 |
| Deafness, Autosomal Recessive 15 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Sensorineural hearing ... |
OMIM:601869 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Overlapping toe, Carpal bone hypoplasia, Short neck, Thoracolumbar scoliosis, Short metacarpal, S... |
OMIM:616723 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa... |
ORPHA:1856 |
| Autosomal Dominant Brachyolmia |
|
Platyspondyly, Increased vertebral height, Abnormal metaphysis morphology, Kyphoscoliosis |
ORPHA:93304 |
| Blount Disease, Adolescent |
|
Genu varum, Bowing of the legs |
OMIM:259200 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... |
OMIM:156530 |
| Dysspondyloenchondromatosis |
|
Platyspondyly, Anisospondyly, Lower limb asymmetry, Abnormal ulnar metaphysis morphology, Genu va... |
ORPHA:85198 |
| Usher Syndrome, Type Ic |
|
Congenital sensorineural hearing impairment, Vestibular hypofunction |
OMIM:276904 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... |
OMIM:600785 |
| Langer Mesomelic Dysplasia |
|
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... |
OMIM:249700 |
| Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
| Deafness, X-Linked 4 |
|
High-frequency hearing impairment, Sensorineural hearing impairment |
OMIM:300066 |
| Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:2790 |
| Deafness, Autosomal Recessive 13 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:603098 |
| Deafness, Autosomal Recessive 20 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:604060 |
| Deafness, Autosomal Recessive 29 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:614035 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... |
ORPHA:1570 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Fibular bowing, Flat occiput, Rickets, Bulging of the costochond... |
OMIM:264700 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... |
OMIM:601438 |
| Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
| Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... |
ORPHA:79106 |
| Pacman Dysplasia |
|
Bowing of the long bones, Epiphyseal stippling |
OMIM:167220 |
| Deafness, Autosomal Dominant 87 |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment |
OMIM:620281 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Flat occiput, Frontal bossing, Failu... |
OMIM:241530 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Pes planus, Thoracolumbar scoli... |
ORPHA:457395 |
| Progressive Pseudorheumatoid Dysplasia |
|
Platyspondyly, Joint contracture of the hand, Abnormal foot morphology, Camptodactyly of finger, ... |
OMIM:208230 |
| Deafness, Autosomal Dominant 76 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618787 |
| Kyphomelic Dysplasia |
|
Low-set ears, Platyspondyly, Radial bowing, Micromelia, Flared metaphysis, Thoracic hypoplasia, D... |
OMIM:211350 |
| Shox-Related Short Stature |
|
Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... |
ORPHA:314795 |
| Ulnar Hypoplasia |
|
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... |
OMIM:191440 |
| Deafness, Autosomal Dominant 6 |
|
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:600965 |
| Deafness, Autosomal Dominant 20 |
|
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:604717 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
| Deafness, Autosomal Recessive 57 |
|
Abnormal vestibular function, Hearing impairment, Sensorineural hearing impairment |
OMIM:618003 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna |
ORPHA:1118 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Platyspondyly, Radial bowing, Micromelia, Preaxial polydactyly, Vertebral wedging, Micrognathia, ... |
OMIM:617866 |
| Deafness, Autosomal Dominant 4B |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:614614 |
| Acromesomelic Dysplasia 4 |
|
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... |
OMIM:619636 |
| Deafness, Autosomal Recessive 101 |
|
Bilateral sensorineural hearing impairment, Abnormal vestibular function |
OMIM:615837 |
| Deafness, Autosomal Dominant 22 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:606346 |
| Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:221745 |
| Deafness, Autosomal Recessive 79 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:613307 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral... |
ORPHA:1802 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Scoliosis, Recurrent fractures |
OMIM:615066 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Abnormality of the dentition, Short distal phalanx of finger, Dental malocclusion, Hypoplastic il... |
ORPHA:1858 |
| Diastrophic Dysplasia |
|
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Patellar dislocatio... |
OMIM:222600 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Waddling gait, Reduced bone mine... |
OMIM:617974 |
| Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Osteopenia, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ... |
OMIM:620076 |
| Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Hyperconve... |
OMIM:184255 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Metaphyseal cupping, Contractures of the large joints, Pes cavus, Short... |
OMIM:616716 |
| Syndactyly Type 4 |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... |
ORPHA:93405 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Wide nasal bridge, Depressed nasal ridge, Congenital hip dislocation, Deviation of finger, Anteve... |
ORPHA:2412 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... |
OMIM:184253 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... |
OMIM:618013 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Platyspondyly, Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral me... |
OMIM:609324 |
| Anauxetic Dysplasia 3 |
|
Platyspondyly, Broad middle phalanx of finger, Metaphyseal cupping, Short middle phalanx of finge... |
OMIM:618853 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Wide nasal bridge, Abnormality of the dentition, Femoral bowing, Micrognathia, Biconca... |
OMIM:617952 |
| Hypochondroplasia |
|
Depressed nasal bridge, Flared metaphysis, Frontal bossing, Lumbar hyperlordosis, Trident hand, L... |
OMIM:146000 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Vertebral wedging, Abnormal form of the vertebral bodies, Frontal bossing, Bowing of th... |
ORPHA:40 |
| Antley-Bixler Syndrome |
|
Delayed cranial suture closure, Narrow mouth, Arachnodactyly, Talipes, Elbow ankylosis, Short nos... |
ORPHA:83 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
| Monosomy 5P |
|
Small hand, Microretrognathia, Finger syndactyly, Joint hypermobility, Abnormality of bone minera... |
ORPHA:281 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... |
OMIM:613073 |
| Opsismodysplasia |
|
Broad thumb, Abnormal epiphysis morphology, Flat occiput, Frontal bossing, Macrocephaly, Joint st... |
ORPHA:2746 |
| Mietens-Weber Syndrome |
|
Elbow flexion contracture, Pes planus, Dislocated radial head, Forearm undergrowth, Absent proxim... |
OMIM:249600 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Irregular femoral epiphy... |
OMIM:618728 |
| Deafness, Autosomal Dominant 77 |
|
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment |
OMIM:618915 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Hearing impairment, Genu valgum, Intervertebral space narrowing, Reduced proximal interphalangeal... |
ORPHA:166011 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Metaphyseal irregularity, Abnormal pelvic girdle bone morphology, R... |
OMIM:307800 |
| Boomerang Dysplasia |
|
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... |
ORPHA:1263 |
| Atelosteogenesis, Type I |
|
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Neonatal death, Talipes, Talipes... |
OMIM:108720 |
| Osteogenesis Imperfecta, Type Xiii |
|
Platyspondyly, Dentinogenesis imperfecta, Long philtrum, Wide distal femoral metaphysis, Increase... |
OMIM:614856 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys... |
OMIM:617719 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Osteopenia, Femoral bowing, Osteoporosis, Scoliosis, Recurrent fractures |
OMIM:126550 |
| Ritscher-Schinzel Syndrome 3 |
|
Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Micrognathia, Ulnar bowing, P... |
OMIM:619135 |
| Dysosteosclerosis |
|
Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Hypoplastic verte... |
ORPHA:1782 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared... |
ORPHA:93352 |
| Hip Dysplasia, Beukes Type |
|
Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he... |
ORPHA:2114 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Platyspondyly, Fibular overgrowth, Micromelia, Short femoral nec... |
OMIM:602557 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Radial deviation of finger, Short tibia, Short toe, Type A brachydactyly, Carpal synos... |
OMIM:112910 |
| Otopalatodigital Syndrome, Type I |
|
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... |
OMIM:311300 |
| Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia |
|
Radioulnar synostosis, Dislocated radial head, Dolichocephaly |
OMIM:266255 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral... |
OMIM:184252 |
| Ck Syndrome |
|
Retrognathia, Slender build, Micrognathia, Abnormal cortical bone morphology, Malar flattening, J... |
OMIM:300831 |
| Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Radial bowing, Decreased skull ossification, Multiple prenatal fractures, Short metaca... |
OMIM:610915 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Platyspondyly, Bowing of the legs, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Brac... |
OMIM:612847 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Radial bowing, Severe limb shortening, Flat acetabular roof, Hypoplastic ischia, Ovoid... |
OMIM:151210 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... |
OMIM:246570 |
| Cerebellar Ataxia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:212850 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob... |
ORPHA:93284 |
| Deafness, Autosomal Dominant 31 |
|
Old-aged sensorineural hearing impairment |
OMIM:608645 |
| Deafness, Autosomal Dominant 3B |
|
Adult onset sensorineural hearing impairment |
OMIM:612643 |
| Deafness, X-Linked 3 |
|
Congenital sensorineural hearing impairment |
OMIM:300030 |
| Deafness, Autosomal Dominant 83 |
|
Bilateral sensorineural hearing impairment |
OMIM:619808 |
| Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification i... |
OMIM:135100 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Platyspondyly, Broad femoral neck, Lumbar hyperlordosis, Thoracic kyphosis, Genu valgum, Interver... |
OMIM:609223 |
| Geroderma Osteodysplastica |
|
Platyspondyly, Hip dislocation, Abnormal epiphysis morphology, Abnormal form of the vertebral bod... |
ORPHA:2078 |
| Larsen-Like Syndrome |
|
Low-set ears, Dental malocclusion, Conductive hearing impairment, Joint dislocation, Recurrent ot... |
OMIM:608545 |
| Deafness, Autosomal Recessive 119 |
|
Sensorineural hearing impairment |
OMIM:619615 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca... |
ORPHA:2633 |
| Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal u... |
ORPHA:3416 |
| Roussy-Lévy Syndrome |
|
Difficulty walking, Genu valgum, Pes cavus, Gait ataxia, Limb ataxia, Kyphoscoliosis, Talipes equ... |
ORPHA:3115 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Joint hypermobility, Kyphoscoliosis |
OMIM:236660 |
| Postaxial Oligodactyly, Tetramelic |
|
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... |
OMIM:176240 |
| Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Aplasia/Hypoplasia of the f... |
ORPHA:2632 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... |
OMIM:272460 |
| Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Rhizomelia, Abnormality of the dentition, Finger syndactyly, Abno... |
ORPHA:1515 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy... |
ORPHA:75508 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormal epiphysis morphology, Abnormal metaphysis morphology, Reduced bone mineral density, Bowi... |
ORPHA:2501 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal scler... |
OMIM:609052 |
| Ulnar Hypoplasia With Impaired Intellectual Development |
|
Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility |
OMIM:276821 |
| Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
| Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
| Deafness, Autosomal Recessive 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
| Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
| Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
| Deafness, Autosomal Dominant 73 |
|
Sensorineural hearing impairment |
OMIM:617663 |
| Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
| Deafness, Autosomal Recessive 66 |
|
Sensorineural hearing impairment |
OMIM:610212 |
| Deafness, Autosomal Recessive 5 |
|
Sensorineural hearing impairment |
OMIM:600792 |
| Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
| Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
| Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
| Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
| Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
| Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
| Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
| Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
| Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
| Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
| Deafness, Autosomal Recessive 120 |
|
Sensorineural hearing impairment |
OMIM:620238 |
| Deafness, Autosomal Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
| Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
| Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
| Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
| Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
| Deafness, Autosomal Dominant 48 |
|
Sensorineural hearing impairment |
OMIM:607841 |
| Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
| Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
| Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
| Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
| Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
| Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
| Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
| Deafness, Autosomal Dominant 84 |
|
Sensorineural hearing impairment |
OMIM:619810 |
| Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
| Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
| Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
| Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
| Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
| Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
| Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
| Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
| Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
| Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
| Deafness, Autosomal Recessive 37 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:607821 |
| Muenke Syndrome |
|
Broad thumb, Hearing impairment, Clinodactyly, Recurrent otitis media, Sensorineural hearing impa... |
OMIM:602849 |
| Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Joint stiffness... |
ORPHA:2249 |
| 3M Syndrome |
|
Thin ribs, Hypoplastic ischia, Abnormality of the elbow, Increased vertebral height, Horizontal r... |
ORPHA:2616 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Micrognathia, Decreased skull ossification, Short neck, Multiple pren... |
OMIM:616897 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth... |
ORPHA:166277 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge... |
OMIM:130060 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Con... |
OMIM:210720 |
| Craniosynostosis 3 |
|
Dental malocclusion, Bicoronal synostosis, Hallux valgus, Sagittal craniosynostosis, Brachydactyl... |
OMIM:615314 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Genu valgum, Micrognathia, Narrow mouth, Intervertebral space narrowing, Radial head subluxation,... |
OMIM:614078 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing |
OMIM:166740 |
| Bruck Syndrome 2 |
|
Platyspondyly, Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to... |
OMIM:609220 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Difficulty walking, Limited hip movement, Dysplasia of the femoral head, Hip contracture, Abnorma... |
ORPHA:99642 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Micrognathia, Genu valgum, Hip contracture, Pes planus, Flattened epiphysis, Advan... |
OMIM:618363 |
| Dysosteosclerosis |
|
Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, A... |
OMIM:224300 |
| Acrodysostosis |
|
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... |
ORPHA:950 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Supernumerary ri... |
OMIM:612447 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... |
ORPHA:2141 |
| Momo Syndrome |
|
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v... |
ORPHA:2563 |
| Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
| Robin Sequence-Oligodactyly Syndrome |
|
Finger aplasia, Abnormal form of the vertebral bodies, Micrognathia, Abnormal morphology of ulna,... |
ORPHA:3104 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Genu varum, Flat occiput, Rick... |
ORPHA:289157 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Shuffling gait, Broad thumb, Hypermobility of interphalangeal joints, Broad hallux, Kyphoscoliosi... |
ORPHA:3433 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
| Arthrogryposis, Distal, Type 6 |
|
Sensorineural hearing impairment |
OMIM:108200 |
| Thanatophoric Dysplasia, Type I |
|
Platyspondyly, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Femoral bow... |
OMIM:187600 |
| Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac bones... |
OMIM:271530 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
| Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... |
ORPHA:93323 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acet... |
ORPHA:163649 |
| Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
| Auriculocondylar Syndrome 2A |
|
Mandibular condyle aplasia, Low-set ears, Microglossia, Dental malocclusion, Hearing impairment, ... |
OMIM:614669 |
| Osteogenesis Imperfecta, Type Vi |
|
Dentinogenesis imperfecta, Bowing of the arm, Increased susceptibility to fractures, Biconcave ve... |
OMIM:613982 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Short toe, Aplasia of the middle phalanges of the toes, ... |
ORPHA:2098 |
| Spondyloperipheral Dysplasia |
|
Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t... |
OMIM:271700 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... |
OMIM:605274 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... |
ORPHA:2634 |
| Geroderma Osteodysplasticum |
|
Platyspondyly, Osteopenia, Hypoplasia of the maxilla, Femoral bowing, Malar flattening, Increased... |
OMIM:231070 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum... |
ORPHA:2831 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... |
ORPHA:1350 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Recurrent otitis media, Hip contracture, Short neck, Lumbar kyph... |
OMIM:156550 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Kyphoscoliosis, Aplasia/Hypoplasia ... |
OMIM:600384 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili... |
ORPHA:2639 |
| Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
| Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... |
OMIM:601369 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... |
ORPHA:1275 |
| Hypophosphatasia, Childhood |
|
Rachitic rosary, Carious teeth, Premature loss of primary teeth, Dolichocephaly, Craniosynostosis... |
OMIM:241510 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... |
ORPHA:2878 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia |
ORPHA:71289 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
| Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... |
ORPHA:477781 |
| Grant Syndrome |
|
Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... |
ORPHA:970 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor... |
ORPHA:166002 |
| Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Small for gestational age, Decreased ca... |
OMIM:616229 |
| 17Q21.31 Microduplication Syndrome |
|
Abnormality of the outer ear, Abnormality of the dentition, Toe syndactyly, Sandal gap, Anteverte... |
ORPHA:217340 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Wide nasal bridge, Broad nasal tip, Copper beaten skull, Scoliosis, Long philtrum, Thick lower li... |
OMIM:619451 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... |
ORPHA:3152 |
| Metatropic Dysplasia |
|
Scoliosis, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hypoplastic ce... |
ORPHA:2635 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Dysplasia of the femoral head, Micrognathia, Genu valgum, Limited elbow movement, Short neck, Fla... |
ORPHA:94068 |
| Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morpholo... |
ORPHA:2347 |
| Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm... |
OMIM:227270 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Seve... |
OMIM:620639 |
| Alpha-Mannosidosis |
|
Synostosis of joints, Craniofacial hyperostosis, Abnormal helix morphology, Depressed nasal bridg... |
ORPHA:61 |
| Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy, Sensorineural hearing impairment |
OMIM:136600 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly of the 5th finger... |
ORPHA:3268 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Kyphoscoliosis, Joint hypermobility, Diaphyseal dysplasia, Metaphyseal dysp... |
OMIM:614727 |
| Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Bowing of the long ... |
ORPHA:1860 |
| Multiple Synostoses Syndrome 1 |
|
Bilateral conductive hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Proximal... |
OMIM:186500 |
| Clark-Baraitser syndrome |
|
Genu recurvatum, Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, Fr... |
OMIM:300602 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Pes planus, Flattened epiphysis, Dislocated radial head, High palate, Short metacarpal, Irregular... |
OMIM:612350 |
| Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Wide nasal base, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal ra... |
OMIM:601559 |
| Solitary Bone Cyst |
|
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Pathologic fracture, Abnormal t... |
ORPHA:83468 |
| Mazabraud Syndrome |
|
Recurrent fractures, Fibrous dysplasia of the bones, Bone pain |
ORPHA:57782 |
| Osteogenesis Imperfecta, Type V |
|
Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Abnormal pelvic girdle bone morphology, Ver... |
OMIM:610967 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
| Buschke-Ollendorff Syndrome |
|
Flexion contracture, Joint stiffness, Scoliosis, Osteopoikilosis |
OMIM:166700 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... |
OMIM:156510 |
| Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Fe... |
OMIM:602080 |
| Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Bila... |
ORPHA:1972 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Reduced bone miner... |
ORPHA:2370 |
| Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta, Multiple small vertebral fractures, Slender long bone, Bowing of the l... |
OMIM:619795 |
| Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome |
|
Lower limb undergrowth, Orofacial cleft, Convex nasal ridge, Craniosynostosis, Forearm undergrowth |
OMIM:218650 |
| Marshall Syndrome |
|
Low-set ears, Radial bowing, Recurrent otitis media, Micrognathia, Sensorineural hearing impairme... |
OMIM:154780 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femoral bowing, Tibial bowin... |
OMIM:608940 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Conductive hearing imp... |
OMIM:184460 |
| Rubinstein-Taybi Syndrome 2 |
|
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Broad thumb, Short 5th toe, Prom... |
OMIM:613684 |
| Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Lambdoidal craniosynostosis, Short distal phalanx of finger, Coronal craniosynostosis, Hypoplasti... |
OMIM:601370 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Low-set ears, Depressed nasal ridge, Proptosis, Retrognathia, Delayed cranial suture closure, Ant... |
ORPHA:1832 |
| Cleft Palate, Isolated |
|
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate |
OMIM:119540 |
| Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Osteopenia, Fractured rib, Wide nasal bridge, Depressed nasal bridge, Metaphyseal spur... |
OMIM:618188 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Micrognathia, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abn... |
ORPHA:3035 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal hip bone morpho... |
ORPHA:1837 |
| Ectodermal Dysplasia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:224800 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,... |
ORPHA:1988 |
| Gorham-Stout Disease |
|
Osteopenia, Abnormal calvaria morphology, Abnormal facial skeleton morphology, Abnormality of the... |
ORPHA:73 |
| Caffey Disease |
|
Calvarial hyperostosis, Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the... |
OMIM:114000 |
| Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome |
|
Scoliosis, Abnormality of lower limb joint, Hearing impairment, Camptodactyly of finger |
ORPHA:85164 |
| Craniosynostosis, Adelaide Type |
|
Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Hallux valgus, Co... |
OMIM:600593 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Broad thumb, Hearing impairment, Clinodactyly, Micrognathia, Cleft soft palate, Sensorineural hea... |
OMIM:616331 |
| Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta, Osteopenia, Vertebral wedging, Increased susceptibility to fractures, ... |
OMIM:610968 |
| Atelosteogenesis Type Ii |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath... |
ORPHA:56304 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle... |
ORPHA:163665 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormal vertebral morphology, Micrognathia, Fibular bowing, Sensorineural ... |
ORPHA:1427 |
| Intermediate Osteopetrosis |
|
Erlenmeyer flask deformity of the femurs, Dental malocclusion, Sandwich appearance of vertebral b... |
ORPHA:210110 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper limb ... |
ORPHA:93351 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Lumbar h... |
OMIM:602471 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Kyphoscoliosis |
OMIM:271200 |
| Summitt Syndrome |
|
Depressed nasal ridge, Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Obesity, Genu v... |
ORPHA:3210 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Genu valgum, Flat capital femoral epiphysis, Genu varum |
OMIM:608361 |
| Atelosteogenesis, Type Ii |
|
Micrognathia, Talipes equinovarus, Short greater sciatic notch, Flat acetabular roof, Cervical ky... |
OMIM:256050 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Femoral bowing, Sensorineural hearing... |
ORPHA:440354 |
| Acromesomelic Dysplasia 1 |
|
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... |
OMIM:602875 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Thin upper lip vermilion, Clef... |
ORPHA:2015 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:1486 |
| Van Den Ende-Gupta Syndrome |
|
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... |
OMIM:600920 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... |
ORPHA:1879 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Humero... |
OMIM:207410 |
| Aurocephalosyndactyly |
|
Craniosynostosis, Short columella, 4-5 toe syndactyly |
OMIM:109050 |
| Cenani-Lenz Syndrome |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,... |
ORPHA:3258 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn... |
ORPHA:93360 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular... |
ORPHA:85184 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... |
ORPHA:2491 |
| Ichthyosis--Cheek--Eyebrow Syndrome |
|
Kyphoscoliosis |
OMIM:146720 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Finger syndactyly, Frontal bossing, Aplasia of the proximal phalanges of the hand, Micrognathia, ... |
ORPHA:2256 |
| Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla, Broad phalanges of the hand, Spinal canal stenosis, Joint stiffness, L... |
OMIM:277600 |
| Upper Limb Mesomelic Dysplasia |
|
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna |
ORPHA:2497 |
| Cartilage-Hair Hypoplasia |
|
Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process, Metaphyseal cupping, ... |
OMIM:250250 |
| Campomelic Dysplasia |
|
Micrognathia, Bowing of the long bones, Talipes equinovarus, Short neck, Hypoplastic inferior ili... |
ORPHA:140 |
| Worster-Drought Syndrome |
|
Abnormal cranial nerve morphology, Sensorineural hearing impairment |
ORPHA:3465 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Short distal phalanx of finger, Plagiocephaly, Hypoplastic vertebral bodies, Microcephaly, Brachy... |
ORPHA:2163 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia of the thumb, Abnormal metac... |
ORPHA:3266 |
| Osteogenesis Imperfecta, Type X |
|
Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Death in childhood, Bowing of the long bone... |
OMIM:613848 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular... |
OMIM:177170 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Pes planus, Beaking of vertebral bodies, Broad toe, Flat acetabular roof,... |
OMIM:609616 |
| Richieri Costa-Da Silva Syndrome |
|
Falls, Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Inabili... |
ORPHA:3101 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... |
OMIM:300554 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... |
OMIM:605432 |
| Codas Syndrome |
|
Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Scoliosis, Dela... |
OMIM:600373 |
| Osteogenesis Imperfecta, Type Xvii |
|
Platyspondyly, Thin metacarpal cortices, Hearing abnormality, Kyphoscoliosis, Bowed humerus, Vert... |
OMIM:616507 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
OMIM:274000 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ... |
OMIM:611263 |
| Intellectual Developmental Disorder, X-Linked 19 |
|
Scoliosis, Kyphoscoliosis |
OMIM:300844 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung deformity |
ORPHA:1765 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Joint dislocation, Micr... |
ORPHA:2097 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, High palate, Depressed nasal ridge, Plagiocephaly, Orofacial cleft, Brachydact... |
ORPHA:1520 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... |
OMIM:250460 |
| Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Depressed nasal ridge, Depressed nasal... |
ORPHA:1248 |
| Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta, Osteopenia, Rhizomelia, Vertebral wedging, Bowing of the arm, Biconcav... |
OMIM:301014 |
| Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Dental malocclusion, Anteverted nares, Long fingers, High palate, Mandibular prognathia, Tapered ... |
OMIM:618292 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Increased bone density with cystic changes, Kyphoscoliosis, Osteoporosis, Increa... |
OMIM:136300 |
| Van Bogaert-Hozay Syndrome |
|
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia |
OMIM:277150 |
| Osteomesopyknosis |
|
Low back pain, Increased bone mineral density |
OMIM:166450 |
| Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... |
OMIM:215140 |
| Bruck Syndrome 1 |
|
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Pterygium, Elbow flexion contracture... |
OMIM:259450 |
| Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea... |
OMIM:164900 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Delayed skeletal maturation, Frontal bossing, Joint hypermobility, 2-3 toe syndactyly... |
ORPHA:2324 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir... |
OMIM:132400 |
| Fibrochondrogenesis 1 |
|
Low-set ears, Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad l... |
OMIM:228520 |
| Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal... |
OMIM:128980 |
| Mycetoma |
|
Structural foot deformity, Painless fractures due to injury, Abnormal form of the vertebral bodie... |
ORPHA:2583 |
| Spinal Dysplasia, Anhalt Type |
|
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s... |
OMIM:601344 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Platyspondyly, Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality o... |
ORPHA:93316 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... |
OMIM:144750 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Elbow contracture, Hip contracture, Kyphoscoliosis, Wrist flexion contracture, Ankle contracture,... |
OMIM:620386 |
| Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Slender long bone, Micrognathia, Recurrent fractures, Bowing of limbs ... |
OMIM:259420 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg... |
ORPHA:1159 |
| Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
|
Osteopenia, Recurrent fractures, Microcephaly |
OMIM:619884 |
| Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Otosclerosis... |
OMIM:166220 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Recurrent otitis media, Genu valgum, Broad foot, Carpal bone hypoplasia, Metaphyseal dysplasia, B... |
OMIM:250420 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... |
OMIM:259600 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Wide nasal bridge, Craniofacial hyperostosis, Mandibular prognathia, Optic atrophy, Craniofacial ... |
OMIM:122860 |
| Pycnodysostosis |
|
Small hand, Carious teeth, Acromelia, Delayed cranial suture closure, Hypoplastic iliac wing, Hep... |
ORPHA:763 |
| Epiphyseal Dysplasia, Multiple, 2 |
|
Epiphyseal dysplasia, Tibial torsion, Irregular epiphyses, Small epiphyses, Knee osteoarthritis, ... |
OMIM:600204 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh... |
OMIM:251450 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Wide nasal bridge, Underdeveloped nasal alae, Frontal bossing, Micrognathia, Open mouth, Dolichoc... |
ORPHA:1516 |
| Osteoglosphonic Dysplasia |
|
Choanal atresia, Rhizomelia, Abnormal form of the vertebral bodies, Tooth agenesis, Failure to th... |
ORPHA:2645 |
| Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Rhizomelia, Micromelia, Elbow dislocation, Frontal bossing, Pterygium, Sh... |
ORPHA:93329 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal h... |
OMIM:222765 |
| Melanocytic Nevus Syndrome, Congenital |
|
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro... |
OMIM:137550 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis |
OMIM:156232 |
| Odontochondrodysplasia 1 |
|
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... |
OMIM:184260 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Wide nasal bridge, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, Narrow... |
OMIM:201170 |
| Sclerosteosis 2 |
|
Hearing impairment, Short finger, Vertigo, Cranial nerve compression, Cutaneous finger syndactyly... |
OMIM:614305 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... |
OMIM:114290 |
| Symphalangism, Proximal, 1A |
|
Distal symphalangism of hands, Conductive hearing impairment, Stapes ankylosis, Aplasia/Hypoplasi... |
OMIM:185800 |
| Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... |
ORPHA:628 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Dentinogenesis imperfecta, Kyphosis, Bowing of limbs due to multiple fractures, De... |
OMIM:259440 |
| Three M Syndrome 2 |
|
Short 5th finger, Depressed nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long ph... |
OMIM:612921 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Short long bone, Thrombocytopenia, Camptodactyly,... |
OMIM:619751 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... |
OMIM:125500 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Prominent nose, Hallux valgus, Dental malocclusion, Kyphoscoliosis |
OMIM:615541 |
| Kyphomelic Dysplasia |
|
Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Joint stiffness,... |
ORPHA:1801 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Osteomalacia, Rickets of the lower limbs, Sclerotic vertebral endplates, Tooth abscess, Genu varu... |
ORPHA:289176 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Toe syndactyly, Long philtrum, Obesity, Micrognathia, Large fontanelles, ... |
ORPHA:171839 |
| Perching Syndrome |
|
Respiratory distress, Camptodactyly, Scoliosis, Joint contracture |
OMIM:617055 |
| Rhiny |
|
Thin vermilion border, Anteverted nares, Short nose |
OMIM:180360 |
| Chst3-Related Skeletal Dysplasia |
|
Rhizomelia, Abnormal form of the vertebral bodies, Irregular epiphyses, Small epiphyses, Genu val... |
ORPHA:263463 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Abnormal vertebral morphology, Hamstring contractures, Kyphoscoliosis, Short neck, Elbow ankylosi... |
ORPHA:96183 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Rhizomelia, Flared metaphysis, Epiphyseal stippling, Calcific stippling of infantile cartilaginou... |
OMIM:215100 |
| Omodysplasia 2 |
|
Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Front... |
OMIM:164745 |
| Deafness, Autosomal Recessive 121 |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:620551 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos... |
OMIM:271650 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ... |
ORPHA:52056 |
| Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Low-set, posteriorly rotated ears, Micrognathia, Joint hypermobility, Mic... |
ORPHA:1695 |
| Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
| Achard Syndrome |
|
Micrognathia, Joint hypermobility, Arachnodactyly, Brachycephaly, Broad skull |
OMIM:100700 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Lambdoidal craniosynostosis, Wide nasal bridge, Broad alveolar ridges, Small anterior fontanelle,... |
OMIM:314320 |
| Greenberg Dysplasia |
|
Platyspondyly, Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Abnormal form of the ve... |
ORPHA:1426 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormal cortical bone morphology, Microcephaly, Limb undergrowth, Abnormal limb bone morphology,... |
ORPHA:2204 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... |
ORPHA:168549 |
| Mueller-Weiss Syndrome |
|
Joint subluxation, Tibiofibular diastasis, Equinovarus deformity, Sclerosis of foot bone, Tibial ... |
ORPHA:566943 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility, Micromelia, Flared, irregular rib ends, Coxa vara, S... |
ORPHA:168555 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Toe syndactyly, Open bite, Narrow mouth, High palate, Short nose, Downturned corners of mouth, Sh... |
ORPHA:1327 |
| Legg-Calvé-Perthes Disease |
|
Abnormality of the dentition, Joint dislocation, Cartilage destruction |
ORPHA:2380 |
| Odontochondrodysplasia |
|
Platyspondyly, Cone-shaped epiphysis, Square pelvis bone, Micromelia, Respiratory distress, Abnor... |
ORPHA:166272 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Mesomelia, Rhizomelia, Brain abscess, Respiratory distress, Lumbar hyperlordosis, ... |
OMIM:616482 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal lung lobation... |
ORPHA:2631 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Platyspondyly, Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the el... |
ORPHA:2619 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Large fontanelles, Death in childhood, Short neck, Flat acetabul... |
OMIM:613320 |
| Achondrogenesis Type 2 |
|
Hypoplastic ilia, Narrow chest, Unossified sacrum, Micromelia, Hearing impairment, Absent vertebr... |
ORPHA:93296 |
| Seckel Syndrome 4 |
|
Low-set ears, Retrognathia, Steep acetabular roof, 11 pairs of ribs, Microcephaly |
OMIM:613676 |
| Thoracomelic Dysplasia |
|
Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Short ribs, Joint hypermo... |
ORPHA:1803 |
| Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Wide nasal bridge, Low-set ears, Broad nasal tip, Long philtrum, Thick nasal alae, Narrow jaw, Th... |
OMIM:618147 |
| Osteopetrosis, Autosomal Dominant 1 |
|
