Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
Auditory Neuropathy, Autosomal Dominant 3 |
|
Abnormal speech discrimination, Hearing impairment |
OMIM:619832 |
Deafness-Oligodontia Syndrome |
|
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear |
ORPHA:3230 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Deafness, Autosomal Recessive 84A |
|
Vestibular dysfunction, Hearing impairment |
OMIM:613391 |
Deafness, Autosomal Recessive 1B |
|
Vestibular dysfunction, Hearing impairment |
OMIM:612645 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... |
OMIM:156500 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Metaphyseal Anadysplasia |
|
Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypoplasia of the radi... |
ORPHA:1040 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Increased ... |
OMIM:183849 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Scoliosis, Tibial torsion |
OMIM:188800 |
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 4B |
|
Hearing impairment |
OMIM:614614 |
Deafness, Autosomal Dominant 24 |
|
Hearing impairment |
OMIM:606282 |
Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
Deafness, Autosomal Dominant 73 |
|
Hearing impairment |
OMIM:617663 |
Deafness, Autosomal Dominant 74 |
|
Hearing impairment |
OMIM:618140 |
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 Recessive 96 |
|
Hearing impairment |
OMIM:614414 |
Deafness, Autosomal Recessive 55 |
|
Hearing impairment |
OMIM:609952 |
Deafness, Autosomal Recessive 47 |
|
Hearing impairment |
OMIM:609946 |
Deafness, Autosomal Recessive 89 |
|
Hearing impairment |
OMIM:613916 |
Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
Deafness, Autosomal Dominant 56 |
|
Hearing impairment |
OMIM:615629 |
Deafness, Autosomal Dominant 54 |
|
Hearing impairment |
OMIM:615649 |
Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
Deafness, Autosomal Recessive 18B |
|
Hearing impairment |
OMIM:614945 |
Deafness, Autosomal Dominant 51 |
|
Hearing impairment |
OMIM:613558 |
Deafness, Autosomal Recessive 93 |
|
Hearing impairment |
OMIM:614899 |
Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... |
ORPHA:2777 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... |
OMIM:300106 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... |
ORPHA:3344 |
Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Limited pronation/supination of forearm, Radioulnar synostosis |
OMIM:179300 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral bowing, Anterior tibial b... |
OMIM:112350 |
Blount Disease |
|
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... |
ORPHA:2768 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... |
OMIM:608728 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Deafness, Autosomal Recessive 25 |
|
Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613285 |
Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Micrognathia, Tombstone-shap... |
OMIM:108721 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... |
OMIM:608940 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregularity, Tibial bowing,... |
OMIM:600081 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... |
ORPHA:93307 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... |
OMIM:250215 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Deafness, Autosomal Dominant 11 |
|
Vestibular dysfunction, Vertigo, Bilateral sensorineural hearing impairment |
OMIM:601317 |
Deafness, Autosomal Recessive 2 |
|
Sensorineural hearing impairment, Vertigo, Vestibular dysfunction |
OMIM:600060 |
Acromesomelic Dysplasia 2A |
|
Stillbirth, Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humeru... |
OMIM:200700 |
Ring Chromosome 4 Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... |
ORPHA:1447 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... |
OMIM:601376 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
Metatropic Dysplasia |
|
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... |
OMIM:156530 |
Maxillonasal Dysplasia, Binder Type |
|
Large earlobe, Dental malocclusion, Depressed nasal bridge, Short nose, Short columella |
OMIM:155050 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Overlapping toe, Malar flattening, Craniosynostosis, Osteopenia, Femoral bowing, Short neck, Plat... |
OMIM:616723 |
Deafness, Autosomal Recessive 35 |
|
Sensorineural hearing impairment, Abnormal ear morphology |
OMIM:608565 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Micrognathia, Camptodactyly of finger, Bowing of th... |
OMIM:249710 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur |
OMIM:600121 |
Brachydactyly Type A1 |
|
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... |
ORPHA:93388 |
Parastremmatic Dwarfism |
|
Kyphosis, Short neck, Scoliosis, Genu valgum, Bowing of the long bones |
OMIM:168400 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Hypoplastic ilia, Platyspondyly, St... |
OMIM:616583 |
Deafness, Autosomal Recessive 84B |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:614944 |
Vitamin D-Dependent Rickets, Type 2A |
|
Femoral bowing, Delayed eruption of teeth, Thin bony cortex, Carious teeth, Bulging of the costoc... |
OMIM:277440 |
Deafness, Autosomal Recessive 94 |
|
Vestibular dysfunction, Bilateral sensorineural hearing impairment |
OMIM:618434 |
Scoliosis, Isolated, Susceptibility To, 1 |
|
Scoliosis |
OMIM:181800 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Femoral bowing, Delayed eruption of teeth, Thin bony cortex, Bulging of the costochondral junctio... |
OMIM:264700 |
Deafness, Autosomal Dominant 81 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:619500 |
Deafness, Autosomal Recessive 7 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:600974 |
Deafness, Autosomal Recessive 110 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:618094 |
Deafness, Autosomal Dominant 71 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:617605 |
Deafness, Autosomal Recessive 1A |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:220290 |
Blount Disease, Infantile |
|
Genu varum, Abnormality of the proximal tibial epiphysis |
OMIM:188700 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer... |
OMIM:171480 |
Deafness, Autosomal Recessive 30 |
|
Progressive hearing impairment, Progressive sensorineural hearing impairment |
OMIM:607101 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Irregular vertebral endplates, Metaphyseal irregularity, Widely-spaced incisors, Slender finger, ... |
OMIM:601668 |
Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Femoral bowing, Platyspondyly, Thin bony cortex, Thoracic kyphosis, Broad thumb, Rhizomelia, Pes ... |
OMIM:619638 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... |
OMIM:271630 |
Autosomal Dominant Brachyolmia |
|
Abnormal metaphysis morphology, Kyphoscoliosis, Platyspondyly, Increased vertebral height |
ORPHA:93304 |
Dysspondyloenchondromatosis |
|
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Osteoarthritis, Platyspo... |
ORPHA:85198 |
Blount Disease, Adolescent |
|
Bowing of the legs, Genu varum |
OMIM:259200 |
Dyschondrosteosis And Nephritis |
|
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm |
OMIM:127350 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... |
OMIM:249700 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... |
ORPHA:1856 |
Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
Diastrophic Dysplasia |
|
Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hy... |
OMIM:222600 |
Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
Usher Syndrome, Type Ic |
|
Vestibular hypofunction, Congenital sensorineural hearing impairment |
OMIM:276904 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... |
OMIM:601560 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Metaphyseal ir... |
OMIM:241530 |
Symbrachydactyly Of Hands And Feet |
|
Abnormality of the humeroulnar joint, Vertebral segmentation defect, Abnormal morphology of ulna,... |
ORPHA:1570 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Platyspondyly, Rhizomelia, Short... |
OMIM:601438 |
Progressive Pseudorheumatoid Dysplasia |
|
Coxa vara, Joint stiffness, Kyphoscoliosis, Enlarged metacarpophalangeal joints, Joint contractur... |
OMIM:208230 |
Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... |
ORPHA:2019 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... |
ORPHA:457395 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Irregular vertebral endplates, Hip contracture, Advanced ossification of carpal bones, Kyphoscoli... |
OMIM:618363 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Lateral clavicle hook, Short femur, Undulate r... |
OMIM:211350 |
Metaphyseal Dysplasia, Spahr Type |
|
Metaphyseal dysplasia, Metaphyseal sclerosis, Metaphyseal widening, Short lower limbs, Genu valgu... |
OMIM:250400 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Shox-Related Short Stature |
|
Forearm undergrowth, Tibial bowing, Micrognathia, Scoliosis, Genu valgum, Cubitus valgus, Short f... |
ORPHA:314795 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Platyspondyly, Short neck, Rh... |
OMIM:223800 |
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 |
Ulnar Hypoplasia |
|
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... |
OMIM:191440 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna |
ORPHA:1118 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Joint stiffness, Tibial bowing, Flexion contracture, Absent ossification of capital femoral epiph... |
OMIM:245160 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Coxa vara, Metaphyseal irregularity, Scoliosis, Short femoral neck, Genu varum, Hyperconvex verte... |
OMIM:184255 |
Deafness, Autosomal Dominant 22 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:606346 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:221745 |
Deafness, Autosomal Recessive 79 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613307 |
Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Short ribs, Decre... |
OMIM:617866 |
Acromesomelic Dysplasia 4 |
|
Broad phalanx, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal gap, Prominent deltoi... |
OMIM:619636 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Osteogenesis Imperfecta, Type Xiv |
|
Recurrent fractures, Femoral bowing, Osteopenia, Scoliosis, Increased susceptibility to fractures |
OMIM:615066 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... |
ORPHA:93316 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies... |
ORPHA:1802 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Kyphosis, Dental malocclusion, Abnormality of the dentition, Brac... |
ORPHA:1858 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
Omodysplasia 2 |
|
Dislocated radial head, Short 1st metacarpal, Short humerus, Rhizomelic arm shortening, Frontal b... |
OMIM:164745 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Tho... |
OMIM:618019 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Narrow mouth, Malar flattening, Abnormality of fontanelles, Prominence of the premaxilla, Depress... |
ORPHA:2412 |
Genu Valgum, St. Helena Familial |
|
Genu valgum |
OMIM:137370 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... |
OMIM:184253 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Platyspondyly, Broad femoral neck... |
OMIM:609324 |
Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Thin ribs, Femoral bowing, Micrognathia, Abnormality of the dentition, Bicon... |
OMIM:617952 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Thoracic scoliosis... |
OMIM:616716 |
Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... |
OMIM:611702 |
Metaphyseal Anadysplasia 2 |
|
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Genu varum, Short... |
OMIM:613073 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Beaking of vertebral bodies, Kyphosis, Dolichocephaly, Brachydactyly, Scoliosis, Abnormal form of... |
ORPHA:40 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Wide anterior fontanel, Metaphyseal cupping, Femoral bowing, Trident... |
OMIM:618853 |
Antley-Bixler Syndrome |
|
Elbow ankylosis, Cleft palate, Craniosynostosis, Femoral bowing, Short nose, Joint stiffness, Lon... |
ORPHA:83 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... |
OMIM:108720 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Intervertebral space... |
ORPHA:166011 |
Opsismodysplasia |
|
Joint stiffness, Macrocephaly, Hypoplastic vertebral bodies, Abnormally ossified vertebrae, Hypop... |
ORPHA:2746 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Forearm undergrowth, Dislocated radial head, Pes planus, Elbow flexion contracture, Absent proxim... |
OMIM:249600 |
Usher Syndrome, Type Iia |
|
Congenital sensorineural hearing impairment |
OMIM:276901 |
Usher Syndrome, Type Iic |
|
Congenital sensorineural hearing impairment |
OMIM:605472 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Femoral bowing, Osteopenia, Platyspondyly, Scoliosis, Osteoporosis |
OMIM:126550 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Coxa vara, Short long bone, Enlarged metaphyses, Platyspondyly, Irregular femoral epiphysis, Genu... |
OMIM:618728 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Hy... |
ORPHA:2501 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
Pyle Disease |
|
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... |
OMIM:265900 |
Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Small cervical vertebral b... |
OMIM:135100 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... |
OMIM:617719 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Irregular vertebral endplates, Flexion contracture, Osteopenia, Microcephaly, Short humerus, Micr... |
OMIM:222765 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... |
ORPHA:1263 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Femoral bowing, Delayed eruption of teeth, Thin bony cortex, Subperiosteal bone resorption, Osteo... |
ORPHA:289157 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification... |
ORPHA:2114 |
Ritscher-Schinzel Syndrome 3 |
|
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ... |
OMIM:619135 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platyspondyly, Short n... |
OMIM:184252 |
Dysosteosclerosis |
|
Irregular vertebral endplates, Recurrent fractures, Macrocephaly, Hypoplastic vertebral bodies, I... |
ORPHA:1782 |
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia |
|
Dolichocephaly, Dislocated radial head, Radioulnar synostosis |
OMIM:266255 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Platyspondyly, Biconcave vertebral bodies, Short neck, Arthralgia ... |
ORPHA:93284 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:212850 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... |
OMIM:609223 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Abnormality of the hand, Short tibia, Syndactyly, Foot oligodac... |
OMIM:246570 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Bowing of the legs, Kyphoscoliosis, Platyspondyly, Brachydactyly, ... |
OMIM:612847 |
Deafness, Autosomal Recessive 63 |
|
Congenital sensorineural hearing impairment |
OMIM:611451 |
Deafness, Autosomal Recessive 101 |
|
Bilateral sensorineural hearing impairment |
OMIM:615837 |
Deafness, Autosomal Dominant 31 |
|
Old-aged sensorineural hearing impairment |
OMIM:608645 |
Deafness, Autosomal Recessive 77 |
|
Bilateral sensorineural hearing impairment |
OMIM:613079 |
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 |
Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... |
OMIM:271700 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... |
ORPHA:93352 |
Osteogenesis Imperfecta, Type Vi |
|
Coxa vara, Beaking of vertebral bodies, Biconcave vertebral bodies, Protrusio acetabuli, Joint la... |
OMIM:613982 |
Roussy-Lévy Syndrome |
|
Kyphoscoliosis, Talipes equinovarus, Limb ataxia, Pes cavus, Scoliosis, Genu valgum, Difficulty w... |
ORPHA:3115 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Decreased calvarial ossification, Femoral bowing, Platyspondyly, Femoral retroversion... |
OMIM:610915 |
Rubinstein-Taybi Syndrome 2 |
|
High palate, Posterior helix pit, Dental malocclusion, Narrow palate, Convex nasal ridge, Retrogn... |
OMIM:613684 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Kyphoscoliosis, Joint laxity, Thoracolumbar kyphosis |
OMIM:236660 |
Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Recurrent fractures, Abnormal bone ossification, Malar flattening, P... |
ORPHA:2078 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Talipes equinovarus, Hypopla... |
ORPHA:93359 |
Deafness, Autosomal Recessive 119 |
|
Sensorineural hearing impairment |
OMIM:619615 |
Hypochondroplasia |
|
Lumbar hyperlordosis, Aplasia/hypoplasia of the extremities, Flared metaphysis, Brachydactyly, Ge... |
OMIM:146000 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Thin bo... |
ORPHA:75508 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose, Microretrognathia, Long philtrum |
OMIM:218010 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Abnormal dental enamel morphology, Clinodactyly of the 5th finger... |
ORPHA:1515 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility |
OMIM:276821 |
Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Dolichocephaly, Camptodactyly of fin... |
ORPHA:2633 |
Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
Larsen-Like Syndrome |
|
Conductive hearing impairment, Wide anterior fontanel, Macrocephaly, Clinodactyly of the 5th fing... |
OMIM:608545 |
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 Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
Deafness, Autosomal Dominant 40 |
|
Sensorineural hearing impairment |
OMIM:616357 |
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, Autosomal Dominant 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
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 Dominant 53 |
|
Sensorineural hearing impairment |
OMIM:609965 |
Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
Deafness, Autosomal Dominant 75 |
|
Sensorineural hearing impairment |
OMIM:618778 |
Deafness, Autosomal Dominant 76 |
|
Sensorineural hearing impairment |
OMIM:618787 |
Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
Deafness, Autosomal Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
Deafness, Autosomal Recessive 117 |
|
Sensorineural hearing impairment |
OMIM:619174 |
Deafness, Autosomal Dominant 66 |
|
Sensorineural hearing impairment |
OMIM:616969 |
Deafness, Autosomal Recessive 31 |
|
Sensorineural hearing impairment |
OMIM:607084 |
Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
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 |
Deafness, Autosomal Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
Deafness, Autosomal Recessive 100 |
|
Sensorineural hearing impairment |
OMIM:618422 |
Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
Deafness, Autosomal Recessive 99 |
|
Sensorineural hearing impairment |
OMIM:618481 |
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 Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
Auriculocondylar Syndrome 2 |
|
Cleft at the superior portion of the pinna, Dental malocclusion, Abnormal pinna morphology, Macro... |
OMIM:614669 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... |
OMIM:609052 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cort... |
ORPHA:564003 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... |
OMIM:602557 |
Muenke Syndrome |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Macrocephaly, Thimble-shaped mid... |
OMIM:602849 |
Geroderma Osteodysplasticum |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Tibial bowing, Kyphoscoliosis, Recurr... |
OMIM:231070 |
Deafness, Autosomal Recessive 37 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:607821 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Joint stiffness, Hypoplasia of the radius, Broad hallux phalanx, Micromelia, Ulnar deviation of f... |
ORPHA:2249 |
Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Small abnormally formed scapulae, Wide-cupped costochondral junctions, ... |
OMIM:187600 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Platyspondyly, Arthralgia of the hip, Difficulty walking, Hip subluxation, Dysplasia of the femor... |
ORPHA:99642 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Short distal phalan... |
OMIM:210720 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Pectus carinatum, Block vertebrae, Vertebral segmentation defect, Epiphyseal dysplasi... |
OMIM:272460 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Hypoplasia of the ulna, Hypoplastic pelvis, Rocker bottom... |
ORPHA:2616 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Spinal canal stenosis, Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing ... |
OMIM:307800 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Osteopenia, Short neck, Platyspondyly, Short nose, Flexion contracture, Short femur... |
OMIM:616897 |
Momo Syndrome |
|
High palate, Thick upper lip vermilion, Dental malocclusion, Abnormal bone ossification, Short st... |
ORPHA:2563 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses |
OMIM:166740 |
Bruck Syndrome 2 |
|
Talipes equinovarus, Flexion contracture, Femoral bowing, Osteopenia, Platyspondyly, Elbow flexio... |
OMIM:609220 |
Arthrogryposis, Distal, Type 6 |
|
Sensorineural hearing impairment |
OMIM:108200 |
Dysosteosclerosis |
|
Short sternum, Osteopenia, Platyspondyly, Sclerotic scapulae, Delayed closure of the anterior fon... |
OMIM:224300 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Kyphoscoliosis, Atlantoaxial abnormality, Broad hallux, Hypermobility of interphalangeal joints, ... |
ORPHA:3433 |
Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Delayed closure of the ... |
OMIM:311300 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b... |
ORPHA:2831 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... |
ORPHA:2098 |
Craniosynostosis 3 |
|
Dental malocclusion, Brachydactyly, Sagittal craniosynostosis, Hallux valgus, Left unicoronal syn... |
OMIM:615314 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr... |
ORPHA:93314 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Micrognathia, Abn... |
ORPHA:3104 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Thanatophoric Dysplasia Type 1 |
|
Joint stiffness, Wide anterior fontanel, Kyphosis, Short femur, Femoral bowing, Hypoplastic ilia,... |
ORPHA:1860 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Tibial bowing, Lumbar hyperlordosis, Abnormal iliac wing morphology, Abnorm... |
ORPHA:1427 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Bowing of the long bones, T... |
ORPHA:53697 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Hypoplasia of the ulna, Abn... |
ORPHA:2878 |
Heart-Hand Syndrome Type 2 |
|
Joint stiffness, Abnormal morphology of ulna, Abnormality of the humerus, Brachydactyly, Micromel... |
ORPHA:1350 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Sensorineural hearing impairment |
OMIM:616460 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Slender finger, Cleft palate, Depressed nasal bridge, Short neck, Platyspondyly, Ani... |
ORPHA:163649 |
Kniest Dysplasia |
|
Enlarged joints, Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Hip contracture, Clef... |
OMIM:156550 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, Abnormality of tibia morphol... |
ORPHA:2634 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Radioulnar synostosis, Abnormal rib morphology, Abnorm... |
ORPHA:3268 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
17Q21.31 Microduplication Syndrome |
|
High palate, Clinodactyly of the 5th finger, Malar flattening, Micrognathia, Microcephaly, Abnorm... |
ORPHA:217340 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Kyphoscoliosis, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
Hypophosphatasia, Childhood |
|
Bowing of the legs, Craniosynostosis, Dolichocephaly, Premature loss of primary teeth, Rachitic r... |
OMIM:241510 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... |
ORPHA:477781 |
Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Platyspondyly, Micromelia, Sandal gap, Pulmonary hypoplasia, M... |
OMIM:256050 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Generaliz... |
ORPHA:2790 |
Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Micrognathia, Single transverse palmar crease, Mesomelic arm shortening... |
OMIM:113470 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Grant Syndrome |
|
Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Radially deviated wrists, Coxa vara, Reduced arm span, Osteoarthritis, Abnormality of the epiphys... |
ORPHA:166002 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Hydrocephalus With Associated Malformations |
|
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Lower limb undergrowth |
OMIM:236640 |
Osteogenesis Imperfecta, Type Xi |
|
Coxa vara, Kyphoscoliosis, Dentinogenesis imperfecta, Osteopenia, Scoliosis, Biconcave vertebral ... |
OMIM:610968 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the humerus, Brachyda... |
ORPHA:1275 |
Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Bilateral conductive hearing impair... |
OMIM:186500 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Pursed lips, Femoral bowing, Short neck, Ulnar deviation of finger, Carious teet... |
OMIM:601559 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy |
OMIM:136600 |
Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Macrocephaly, Talipes equinovarus, Abnormal cartilage matrix, Hypoplastic... |
ORPHA:2347 |
Acrodysostosis |
|
Brachycephaly, Short toe, Abnormal morphology of ulna, Hypoplasia of the radius, Cone-shaped epip... |
ORPHA:950 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Abnormal pinna morphology, Femoral bowing, Short neck, Micromelia, 11 pairs of ribs, Platyspondyl... |
OMIM:210710 |
Lethal Osteosclerotic Bone Dysplasia |
|
Gingival overgrowth, Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Microce... |
ORPHA:1832 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Alpha-Mannosidosis |
|
Dental malocclusion, Gingival overgrowth, Macrocephaly, Abnormal helix morphology, Narrow palate,... |
ORPHA:61 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing... |
OMIM:184460 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Hip dislocation, Kyphoscoliosis, Arthrogryposis multiplex congenita |
OMIM:212540 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... |
ORPHA:140 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Micrognathia, Short 5th finger, Neonatal death, Hypoplasia of the ulna,... |
OMIM:227270 |
Spondyloepiphyseal Dysplasia Congenita |
|
Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly, Upper limb undergrowth, G... |
ORPHA:94068 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Narrow mouth, Clinodactyly of the 5th finger, Reduced bone mineral density, Thin vermilion border... |
ORPHA:2370 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
High palate, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Convex nasal ridge, Craniosyno... |
OMIM:619451 |
Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Microretrognathia, Joint hypermobility, Small for gestational age, Osteopeni... |
OMIM:616229 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu valgum, Rhizom... |
ORPHA:56304 |
Ectodermal Dysplasia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:224800 |
Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Bil... |
ORPHA:1972 |
Aurocephalosyndactyly |
|
4-5 toe syndactyly, Short columella, Craniosynostosis |
OMIM:109050 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Forearm undergrowth, Convex nasal ridge, Craniosynostosis, Oral cleft, Lower limb undergrowth |
OMIM:218650 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Coxa vara, Rib fusion, Aplasia/Hypoplasia of the tibia, Talipes eq... |
ORPHA:1988 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Fragmented epiphyses, Airway obstruction, Slender finger, Platyspondyly, Genu valgum, Abnormality... |
ORPHA:93360 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Short distal phalanx of finger, Hypoplastic vertebral bodies, Coronal craniosynostosis, Coxa valg... |
OMIM:601370 |
Caffey Disease |
|
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperos... |
OMIM:114000 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Osteoporosis, Joint laxity, Diaphyse... |
OMIM:614727 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Wide mouth, Macrocephaly, Triangular mouth, Cleft palate, Abnormality of the dentition, Depressed... |
OMIM:616331 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Cleft palate, Micrognathia, Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Thin... |
ORPHA:2015 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormal form of the vertebral bodies,... |
ORPHA:1837 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short humerus, Scoliosis, Short femoral neck, Biconcave vertebral bo... |
OMIM:610319 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Genu valgum, Platyspondyly, Flat capital femoral epiphysis, Genu varum |
OMIM:608361 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur, Femoral bowing, Fr... |
OMIM:602080 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormality of the ankles, Abnormal ilium morphology, Abnormal vertebral morpholog... |
ORPHA:163665 |
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome |
|
Hearing impairment, Scoliosis, Camptodactyly of finger, Abnormality of lower limb joint |
ORPHA:85164 |
Marshall Syndrome |
|
Macrodontia of permanent maxillary central incisor, Clinodactyly of the 4th finger, Irregular pro... |
OMIM:154780 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Wide anterior fontanel, Flexion contracture, Arachnodactyly, Femoral bowing, Coronal craniosynost... |
OMIM:207410 |
Van Den Ende-Gupta Syndrome |
|
Craniosynostosis, Femoral bowing, Narrow foot, Tapered finger, Glenoid fossa hypoplasia, Long met... |
OMIM:600920 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Coxa vara, Metaphyseal dysplasia, Macrocephaly, Metaphyseal irregularity, Short ribs, Abnormally ... |
OMIM:613330 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Limitation of joint mobility, Osteoarthritis, Platyspondyly, Synostosis of carpal bone... |
ORPHA:93351 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Depressed nasal bridge, Monkey wrench f... |
OMIM:251450 |
Richieri Costa-Da Silva Syndrome |
|
Beaking of vertebral bodies, Kyphoscoliosis, Inability to walk, Distal lower limb muscle weakness... |
ORPHA:3101 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... |
OMIM:144750 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology |
OMIM:612529 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Kyphoscoliosis |
OMIM:271200 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Joint stiff... |
OMIM:132400 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Flared metaphysis, Platysp... |
OMIM:156510 |
Acromesomelic Dysplasia 1 |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Thoracolumbar interpediculate ... |
OMIM:602875 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Kyphoscoliosis, Flexion contracture, Flared metaphysis, Respiratory insufficiency, Rhizomelia, Co... |
OMIM:215100 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Butterfly vertebrae, Talipes equinovarus, Short femur, Hypoplasia of the radius, Short tibia, Sho... |
OMIM:607143 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Macrocephaly, Hypertelorism, Broad nasal tip, Long philtrum, Tapered finger, Thick nasal alae, Lo... |
OMIM:618147 |
Humero-Radio-Ulnar Synostosis |
|
Elbow ankylosis, Radioulnar synostosis, Abnormal thumb morphology, Abnormal metacarpal morphology... |
ORPHA:3266 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality of fibula ... |
ORPHA:3035 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Flat capital femoral epiph... |
OMIM:612350 |
Summitt Syndrome |
|
Plagiocephaly, Clinodactyly of the 5th finger, Depressed nasal ridge, Craniosynostosis, Camptodac... |
ORPHA:3210 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Absent thumb, Hypoplasia of the radius,... |
OMIM:142900 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Kyphoscoliosis, Massively thickened long bone cortices, Thin calvarium, Brachydactyly, Micromelia... |
OMIM:122900 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Hypoplastic ... |
OMIM:304950 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
MĂĽllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the ulna, Short humerus, Micromelia, Abnormality of the elbow, Postaxial ha... |
ORPHA:2491 |
Au-Kline Syndrome |
|
High palate, Overlapping toe, Deep plantar creases, Cleft palate, Postaxial polydactyly, Craniosy... |
OMIM:616580 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Facial diplegia, Thickened ribs, Macrocephaly, Diaphyseal sclerosis, Papilledema, Wide nasal brid... |
OMIM:122860 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of the proximal phalanges of the hand, Hy... |
ORPHA:2256 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Metaphyseal ir... |
OMIM:300554 |
Epiphyseal Dysplasia, Multiple, 2 |
|
Epiphyseal dysplasia, Irregular epiphyses, Flattened epiphysis, Genu varum, Midface retrusion, Fr... |
OMIM:600204 |
Sclerosteosis 2 |
|
Macrocephaly, Facial palsy, Cutaneous finger syndactyly, Hearing impairment, Mandibular prognathi... |
OMIM:614305 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Sensorineural hearing impairment, Narrow chest, Short femur, Femoral bowing, Metaphyseal widening... |
ORPHA:440354 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Kyphoscoliosis, Flexion contracture, Dysmetria, Ankle clonus, Pes cavus, Brachydactyly, Camptodac... |
OMIM:275900 |
Ichthyosis--Cheek--Eyebrow Syndrome |
|
Kyphoscoliosis |
OMIM:146720 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Short distal phalanx of finger, Plagiocephaly, Clinodactyly of the 5th finger, Hypoplastic verteb... |
ORPHA:2163 |
Worster-Drought Syndrome |
|
Sensorineural hearing impairment, Abnormal cranial nerve morphology |
ORPHA:3465 |
Cartilage-Hair Hypoplasia |
|
Coxa vara, Metaphyseal dysplasia, Metaphyseal cupping, Lumbar hyperlordosis, Lymphopenia, Narrow ... |
OMIM:250250 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Craniosynostosis, Adelaide Type |
|
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... |
OMIM:600593 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Narrow mouth, Cleft palate, Coronal craniosynostosis, Micrognathia, Brachydactyly, Gen... |
OMIM:614078 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... |
OMIM:274000 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... |
OMIM:250460 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... |
OMIM:164900 |
Craniosynostosis With Anomalies Of The Cranial Base And Digits |
|
Absent thumb, Craniosynostosis, Absent middle phalanx of 2nd finger, Proximal placement of hallux... |
OMIM:218530 |
Flynn-Aird Syndrome |
|
Joint stiffness, Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Increased bone den... |
OMIM:136300 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Synostosis of carpal bones, Micromelia, Short thumb, Radioulnar synosto... |
ORPHA:3258 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Clinodactyly of the 5th finger, Radial bowing, Limited pronation/supination of forearm, Proximal ... |
OMIM:605432 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... |
OMIM:611263 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Aplasia/Hypoplasia of the radius, Madelung deformity, Ulnar bowing |
ORPHA:1765 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Cone-shaped epiphys... |
ORPHA:1240 |
Osteomesopyknosis |
|
Low back pain, Increased bone mineral density |
OMIM:166450 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Generalized osteoporosis, Vertebral wedgin... |
ORPHA:1159 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Thin ribs, Short ribs, Femoral bowing, Osteopenia |
OMIM:618188 |
Summitt Syndrome |
|
Oxycephaly, Obesity, Syndactyly, Craniosynostosis |
OMIM:272350 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... |
OMIM:609616 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, High palate, Cleft palate, Depressed nasal ridge, Femoral bow... |
OMIM:114290 |
Van Bogaert-Hozay Syndrome |
|
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia |
OMIM:277150 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Micrognath... |
OMIM:259420 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Bilateral talipes equinovarus, Brachydactyly, Midface retrusion, Frontal bossing, Postaxial oligo... |
OMIM:608571 |
Hyperekplexia 4 |
|
Kyphoscoliosis, Talipes equinovarus, Flexion contracture, Adducted thumb, Camptodactyly, Distal a... |
OMIM:618011 |
Intellectual Developmental Disorder, X-Linked 19 |
|
Kyphoscoliosis, Scoliosis |
OMIM:300844 |
Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Conductive hearing impairment, Carpal synostosis, Aplasia/Hypoplasia of the mid... |
OMIM:185800 |
Spinal Dysplasia, Anhalt Type |
|
Coxa vara, Osteoarthritis of the small joints of the hand, Spinal dysplasia, Thoracolumbar scolio... |
OMIM:601344 |
Fibrochondrogenesis 1 |
|
Abnormal pinna morphology, Short neck, Platyspondyly, Short nose, Rhizomelia, Dumbbell-shaped lon... |
OMIM:228520 |
Mycetoma |
|
Bone cyst, Back pain, Osteomyelitis, Structural foot deformity, Abnormal form of the vertebral bo... |
ORPHA:2583 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
Pycnodysostosis |
|
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... |
ORPHA:763 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Delayed eruption of teeth, Thin metacarpal cortices, C1-C2 subluxation, Thin bony cor... |
OMIM:259600 |
Clark-Baraitser syndrome |
|
Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,... |
OMIM:300602 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Otosclerosis, Kyphosis, Dentinogenesis imperfecta, Femoral bowing present at... |
OMIM:166220 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Scoliosis, Camptodactyly, Thrombocytopenia, Bowing of the long bones, Pulmo... |
OMIM:619751 |
Osteoglosphonic Dysplasia |
|
Abnormal bone ossification, Tooth agenesis, Craniosynostosis, Micrognathia, Brachydactyly, Scolio... |
ORPHA:2645 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... |
OMIM:128980 |
Kyphomelic Dysplasia |
|
Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Abnormal form of the vertebral bodies, ... |
ORPHA:1801 |
Mesomelic Dysplasia, Kantaputra Type |
|
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis |
OMIM:156232 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Delayed eruption of teeth, Polyarticular arthritis, Enthesitis, Sclerotic verte... |
ORPHA:289176 |
Craniofrontonasal Dysplasia |
|
High palate, Depressed nasal ridge, Craniosynostosis, Abnormality of the dentition, Down-sloping ... |
ORPHA:1520 |
Diastrophic Dysplasia |
|
Macrocephaly, Micromelia, Symphalangism affecting the phalanges of the hand, Ulnar deviation of f... |
ORPHA:628 |
Chst3-Related Skeletal Dysplasia |
|
Kyphoscoliosis, Flexion contracture, Brachydactyly, Irregular epiphyses, Scoliosis, Abnormal form... |
ORPHA:263463 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia |
OMIM:301200 |
Melanocytic Nevus Syndrome, Congenital |
|
Everted lower lip vermilion, Prominence of the premaxilla, Broad nasal tip, Long philtrum, Deep p... |
OMIM:137550 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Attached earlobe, Depressed nasal bridge, Short nose, Mandibular prognathia, Midface... |
ORPHA:1327 |
Rhiny |
|
Anteverted nares, Short nose, Thin vermilion border |
OMIM:180360 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Clinodactyly of the 5th finger, Abnormal oral cavity morphology, Craniosynostosis, Dolichocephaly... |
ORPHA:1516 |
Codas Syndrome |
|
Metaphyseal dysplasia, Coronal cleft vertebrae, Delayed ossification of carpal bones, Generalized... |
OMIM:600373 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... |
OMIM:125500 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... |
ORPHA:3152 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Platyspondyly, Micromelia, Short palm, Flared, irregular rib ends, Limitation of joint... |
ORPHA:168555 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognathia, Abnormalit... |
OMIM:251230 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Hamstring contractures, Kyphoscoliosis, Elbow ankylosis, Short neck, Abnormal vertebral morpholog... |
ORPHA:96183 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromel... |
OMIM:184260 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Gene... |
OMIM:100800 |
Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Greenberg Dysplasia |
|
Macrocephaly, Anterior rib punctate calcifications, Short metacarpal, Horizontal sacrum, Platyspo... |
OMIM:215140 |
Non-Distal Trisomy 10Q |
|
High palate, Convex nasal ridge, Everted lower lip vermilion, Micrognathia, Microcephaly, Depress... |
ORPHA:1695 |
Achard Syndrome |
|
Arachnodactyly, Micrognathia, Broad skull, Joint laxity, Brachycephaly |
OMIM:100700 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... |
ORPHA:52056 |
Autosomal Recessive Omodysplasia |
|
Abnormality of femur morphology, Abnormal metaphysis morphology, Craniosynostosis, Micrognathia, ... |
ORPHA:93329 |
Greenberg Dysplasia |
|
Abnormal bone ossification, Anterior rib punctate calcifications, Calvarial skull defect, Abnorma... |
ORPHA:1426 |
Axial Spondylometaphyseal Dysplasia |
|
Platyspondyly, Upper limb undergrowth, Optic atrophy, Flared, irregular rib ends, Thoracic hypopl... |
ORPHA:168549 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Metatropic Dysplasia |
|
Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th... |
ORPHA:2635 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Malar flattening, Craniosynostosis, Thin vermilion border, Micrognathia, Depressed nasal bridge, ... |
ORPHA:171839 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
High palate, Dental malocclusion, Long fingers, Tapered finger, Mandibular prognathia |
OMIM:618292 |
Trigonocephaly With Short Stature And Developmental Delay |
|
High palate, Clinodactyly of the 5th finger, Convex nasal ridge, Small for gestational age, Prema... |
OMIM:314320 |
Thoracomelic Dysplasia |
|
Short ribs, Hyperlordosis, Abnormality of fibula morphology, Limb undergrowth, Genu valgum, Elbow... |
ORPHA:1803 |
Legg-Calvé-Perthes Disease |
|
Abnormality of the dentition, Cartilage destruction, Joint dislocation |
ORPHA:2380 |
Charcot-Marie-Tooth Disease Type 4D |
|
Kyphoscoliosis, Inability to walk, Pes cavus, Hammertoe, Skewfoot, Abnormal foot morphology, Unst... |
ORPHA:99950 |
Multiple Metaphyseal Dysplasia |
|
Short distal phalanx of finger, Abnormal hip bone morphology, Broad distal phalanx of finger, Bra... |
ORPHA:93430 |
Odontochondrodysplasia |
|
Respiratory distress, Cone-shaped epiphysis, Platyspondyly, Micromelia, Scoliosis, Square pelvis ... |
ORPHA:166272 |
Winchester Syndrome |
|
Broad metacarpals, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized os... |
OMIM:277950 |
Autosomal Recessive Spastic Paraplegia Type 27 |
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Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials |
ORPHA:101007 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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High palate, Hypertelorism, Retrognathia, Depressed nasal bridge, Short nose, Anteverted nares, L... |
OMIM:614069 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
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Broad-based gait, Hip contracture, Kyphosis, Talipes equinovarus, Tip-toe gait, Pes cavus, Hypore... |
OMIM:615290 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ulna, Genu valgum, Rhizomelia, Gen... |
OMIM:143095 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Wide anterior fontanel, Prominence of the premaxilla, Microcephaly, Cranial asymmetry, Prominent ... |
OMIM:614886 |
Oligodontia |
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Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Orofaciodigital Syndrome Xi |
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Kyphoscoliosis, Hypoplasia of the odontoid process, Postaxial polydactyly |
OMIM:612913 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
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Vertebral segmentation defect, Abnormal hip bone morphology, Camptodactyly of finger, Abnormal lu... |
ORPHA:2631 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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