| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... |
ORPHA:3269 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... |
ORPHA:1570 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Abnormal epiphysis morphology, Disproportionate short stature, Delayed skeletal matura... |
ORPHA:2501 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Narrow chest, Narrow pelvis bone, Arthrogryposis multiplex congenita, Lumbar hyperlordosis, Hip c... |
OMIM:602484 |
| Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Dentinogenesis imperfecta, Neonatal short-limb short stature, Kyphosis, Slender long b... |
OMIM:259420 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... |
ORPHA:1275 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Disproportionate short stature, Kyphosis, Vertebral wedging, Abnormal form of the vertebral bodie... |
ORPHA:40 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... |
OMIM:151210 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... |
ORPHA:1836 |
| Metaphyseal Anadysplasia |
|
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... |
ORPHA:1040 |
| Acropectorovertebral Dysplasia |
|
Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bon... |
OMIM:102510 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Obesi... |
OMIM:618395 |
| 3M Syndrome |
|
Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Delayed skeletal maturation,... |
ORPHA:2616 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... |
OMIM:610017 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... |
OMIM:186300 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Di... |
OMIM:300863 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
| Tarsal-Carpal Coalition Syndrome |
|
Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr... |
OMIM:186570 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Radial deviation of finger, Short tibia, Short toe, Type A brachydactyly, Carpal synos... |
OMIM:112910 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... |
OMIM:609813 |
| Brachyolmia Type 1, Toledo Type |
|
Lumbar hyperlordosis, Precocious costochondral ossification, Abnormal odontoid process morphology... |
OMIM:271630 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Severe short stature, ... |
OMIM:132400 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal epiphysis morphology, Synostosis of carpal bones, Limitation of joint mobility, Micromel... |
ORPHA:2639 |
| Osteogenesis Imperfecta, Type Ii |
|
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Small for gestational age, Disp... |
OMIM:166210 |
| Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr... |
OMIM:610915 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos... |
OMIM:271650 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Difficulty walking, Limited hip movement, Dysplasia of the femoral head, Hip contracture, Disprop... |
ORPHA:99642 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Thoracic ... |
OMIM:609223 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Synostosis of carpal bones, Abnormal epiphysis morphology, Limitation of joint mob... |
ORPHA:93351 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, Radioulnar synostosis, Abnormal... |
ORPHA:3268 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Small hand, Carious teeth, Delayed skeletal maturation, Delayed cranial suture closure... |
ORPHA:93324 |
| Proximal Symphalangism |
|
Synostosis of carpal bones, Finger syndactyly, Finger clinodactyly, Camptodactyly of finger, Elbo... |
ORPHA:3250 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy... |
OMIM:300232 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
| Diastrophic Dysplasia |
|
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Disproportionate sh... |
OMIM:222600 |
| Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Radioulnar synostosis, Limited pronation/supination of forearm |
OMIM:179300 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Thin ribs, Short distal phalanx of finger, Short 5th finger, Triangular shaped distal phalanges o... |
ORPHA:73230 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... |
ORPHA:157801 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Flattened epiphysis, Advanced ossifica... |
OMIM:618363 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... |
ORPHA:93406 |
| Distal Symphalangism |
|
Joint stiffness, Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, C... |
ORPHA:3248 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... |
ORPHA:485 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... |
OMIM:618167 |
| Thoracomelic Dysplasia |
|
Abnormal pelvic girdle bone morphology, Narrow chest, Disproportionate short-limb short stature, ... |
ORPHA:1803 |
| Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... |
ORPHA:93397 |
| Fibrochondrogenesis 1 |
|
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Sho... |
OMIM:228520 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Disproportionate short-limb short stature, Thoracic hypoplasia, Lumbar hyperlordosis, Limited elb... |
ORPHA:156728 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... |
ORPHA:93383 |
| Osteogenesis Imperfecta, Type X |
|
Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Bowing of the long bones, Osteopenia, Thora... |
OMIM:613848 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta... |
OMIM:184255 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, De... |
OMIM:600561 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach... |
ORPHA:1228 |
| Multiple Synostoses Syndrome 3 |
|
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... |
OMIM:612961 |
| Steel Syndrome |
|
Carpal synostosis, Lumbar hyperlordosis, Limited elbow extension, Coxa vara, Clinodactyly of the ... |
OMIM:615155 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... |
ORPHA:370010 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob... |
ORPHA:93284 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Acrocapitofemoral Dysplasia |
|
Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ... |
ORPHA:63446 |
| Dysspondyloenchondromatosis |
|
Platyspondyly, Anisospondyly, Scoliosis, Joint dislocation, Delayed skeletal maturation, Genu val... |
ORPHA:85198 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Joint contracture of the hand, Infancy onset short-trunk short stature... |
ORPHA:1159 |
| Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Small hand, Carious teeth, Slender long bone, Delayed skeletal maturation, Intrauterin... |
OMIM:244460 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Beaking of vertebral bodies, Broad toe, Flat acetabular roof, Short foot,... |
OMIM:609616 |
| Cole-Carpenter Syndrome 2 |
|
Thin ribs, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Platyspondyly, Kyph... |
OMIM:616294 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Scoliosis, Abnormal sacr... |
ORPHA:1988 |
| Synpolydactyly 2 |
|
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Toe syndactyly, Aplasia/Hypoplasia of the distal... |
ORPHA:3246 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Thin ribs, Slender long bone, Retrognathia, Micrognathia, Decreased calvarial ossification, Decre... |
OMIM:618265 |
| Boomerang Dysplasia |
|
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... |
ORPHA:1263 |
| Three M Syndrome 2 |
|
Thin ribs, Short 5th finger, Severe short stature, Pectus carinatum, Dental malocclusion, Slender... |
OMIM:612921 |
| Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... |
OMIM:611377 |
| Anauxetic Dysplasia 2 |
|
Posterior wedging of vertebral bodies, Delayed skeletal maturation, Intrauterine growth retardati... |
OMIM:617396 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Short toe, Aplasia of the middle phalanges of the toes, ... |
ORPHA:2098 |
| Ophthalmomandibulomelic Dysplasia |
|
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... |
ORPHA:2741 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormal hip bone morphology, Micrognathia, Short neck, Hyperlordos... |
ORPHA:2522 |
| Atelosteogenesis, Type I |
|
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Neonatal dea... |
OMIM:108720 |
| Hypochondroplasia |
|
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal form of the vertebral bod... |
ORPHA:429 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... |
OMIM:156530 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... |
OMIM:113000 |
| Odontochondrodysplasia 1 |
|
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... |
OMIM:184260 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... |
ORPHA:140908 |
| Symphalangism, Proximal, 1A |
|
Distal symphalangism of hands, Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal syn... |
OMIM:185800 |
| Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited elb... |
ORPHA:79106 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Joint hypermobility, Bowing ... |
OMIM:617952 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... |
ORPHA:2634 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Brachydactyly, Short stature, Abnormal sacrum morphology, Scoliosis, Shor... |
ORPHA:1436 |
| Spondylocostal Dysostosis 5 |
|
Severe short stature, Pectus carinatum, Butterfly vertebrae, Supernumerary ribs, Missing ribs, Sh... |
OMIM:122600 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Limitation o... |
ORPHA:90650 |
| Synostoses, Tarsal, Carpal, And Digital |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal synostosis, Metacarpophalangeal sy... |
OMIM:186400 |
| Robin Sequence-Oligodactyly Syndrome |
|
Finger aplasia, Abnormal form of the vertebral bodies, Abnormal morphology of ulna, Abnormal meta... |
ORPHA:3104 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Cervical ribs, Tibial torsion, Fibular aplasia, Micrognathia, Apl... |
ORPHA:3320 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Flat... |
OMIM:251450 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Talipes equinovarus, Short neck, Absent phalangeal crease, Fused thoracic vertebrae, Antecubital ... |
OMIM:618469 |
| Garg-Mishra Progeroid Syndrome |
|
Thin ribs, Platyspondyly, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S... |
OMIM:620601 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosis, Rib ... |
OMIM:277300 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Severe short stature, Pectus carinatum, Hypoplasia of the odontoid process, Scolio... |
OMIM:184250 |
| Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs, Joint dislocation, Short finger, Intrauterine growth retardation, Micrognathia, Increa... |
OMIM:312150 |
| Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Osteopenia, Shor... |
OMIM:620076 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly |
OMIM:263450 |
| Brachydactyly, Type A1 |
|
Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h... |
OMIM:112500 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Flat acetabular roof, Ovoid vertebral bodies, Disproportionate short-limb ... |
OMIM:608728 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis |
OMIM:156232 |
| Heart-Hand Syndrome Type 2 |
|
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... |
ORPHA:1350 |
| Parastremmatic Dwarfism |
|
Severe short stature, Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Sco... |
OMIM:168400 |
| Frontometaphyseal Dysplasia 1 |
|
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... |
OMIM:305620 |
| Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... |
ORPHA:2345 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Elbow dislocat... |
ORPHA:2633 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited... |
OMIM:614078 |
| Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
| Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Osteopenia, Pectus carinatum, Short iliac bones, Flattened proximal radial epiphys... |
OMIM:271530 |
| Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification i... |
OMIM:135100 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc... |
ORPHA:163966 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Delayed skeletal maturat... |
ORPHA:1837 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Thin ribs, Osteopenia, Thin metatarsal cortices, Thin metacarpal cortices, Lumbar hemivertebrae, ... |
ORPHA:2463 |
| Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Joint stiffness, Abnormal hip b... |
ORPHA:577 |
| Mucopolysaccharidosis Type 4 |
|
Carious teeth, Genu valgum, Bowing of the long bones, Short neck, Pectus carinatum, Joint disloca... |
ORPHA:582 |
| Three M Syndrome 1 |
|
Postnatal growth retardation, Short neck, Mandibular prognathia, Hip dislocation, Short 5th finge... |
OMIM:273750 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... |
ORPHA:3344 |
| Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Aplasia/Hypoplasia of the f... |
ORPHA:2632 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Thin ribs, Joint dislocation, Short finger, Intrauterine growth retardation, Micrognathia, Increa... |
OMIM:253290 |
| Myosclerosis, Autosomal Recessive |
|
Spinal rigidity, Lumbar hyperlordosis, Thoracolumbar scoliosis, Achilles tendon contracture, Shor... |
OMIM:255600 |
| Atelosteogenesis, Type Ii |
|
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... |
OMIM:256050 |
| Christian Syndrome |
|
Thoracic hemivertebrae, Prominent metopic ridge, Short stature, Scoliosis, Short middle phalanx o... |
OMIM:309620 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Thin ribs, Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly, Talipes equi... |
OMIM:182212 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Broad ischia, Irregular capital femoral epiphysis, Flat acetabular ... |
OMIM:609052 |
| Leri-Weill Dyschondrosteosis |
|
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... |
OMIM:127300 |
| Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Carious teeth, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long ... |
OMIM:601559 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st... |
OMIM:182255 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... |
OMIM:156500 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Difficulty walking, Hyperlordosis, Hip dysplasia, Flexion contracture, Congenital foot contractio... |
ORPHA:363454 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Genu recurvatum, Broad thumb, Limitation of joint mobility, Short thumb, Interphalangeal joint co... |
OMIM:151200 |
| Kyphomelic Dysplasia |
|
Narrow chest, Disproportionate short stature, Limitation of joint mobility, Micromelia, Abnormal ... |
ORPHA:1801 |
| Achondroplasia |
|
Flat acetabular roof, Disproportionate short stature, Thoracic hypoplasia, Cervical spinal canal ... |
ORPHA:15 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Metatropic Dysplasia |
|
Severe short stature, Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Micromelia, ... |
ORPHA:2635 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Abnormal sacrum morphology, Short thorax, Intrauterine growth retardation, ... |
ORPHA:1797 |
| Smith-Mccort Dysplasia 2 |
|
Hypoplasia of the odontoid process, Genu valgum, Barrel-shaped chest, Decreased body weight, Shor... |
OMIM:615222 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Tip-toe gait, Thoracic scoliosis, Limited shoulder movement, Hyperlordosis, Scapular winging, Ach... |
ORPHA:62 |
| Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Short nec... |
OMIM:253000 |
| Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Short neck,... |
ORPHA:958 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Broad-based gait, Tip-toe gait, Knee flexion contracture, Hip contracture, Achilles tendon contra... |
OMIM:615290 |
| Meier-Gorlin Syndrome 1 |
|
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... |
OMIM:224690 |
| Campomelic Dysplasia |
|
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... |
OMIM:114290 |
| Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Scoliosis, Tibial torsion |
OMIM:188800 |
| Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Delayed cranial suture closure, Micrognathia, Flexion contracture of finger, Short foo... |
OMIM:601812 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Small hand, Shallow acetabular fossae, Postnatal growth retardation, Micrognathia, Talipes equino... |
OMIM:611209 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve... |
OMIM:250460 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... |
ORPHA:2064 |
| Lamb-Shaffer Syndrome |
|
Micrognathia, Mild postnatal growth retardation, Fused cervical vertebrae, Hip dysplasia, Scolios... |
ORPHA:530983 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Delayed skeletal maturation, ... |
OMIM:613320 |
| Hypochondroplasia |
|
Disproportionate short-limb short stature, Flared metaphysis, Lumbar hyperlordosis, Trident hand,... |
OMIM:146000 |
| Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia |
|
Radioulnar synostosis, Dislocated radial head |
OMIM:266255 |
| Brachydactyly Type A1 |
|
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... |
ORPHA:93388 |
| Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Structural fo... |
ORPHA:564003 |
| Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... |
ORPHA:628 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Tip-toe gait, Gait disturbance, Hyperlordosis, Short stature, Scoliosis, Kyphosis, Spinal rigidity |
OMIM:617404 |
| Ruvalcaba Syndrome |
|
Small hand, Narrow chest, Kyphosis, Micromelia, Limited elbow extension, Delayed puberty, Short s... |
OMIM:180870 |
| Familial Anetoderma |
|
Abnormal tibia morphology, Lumbar hyperlordosis, Generalized joint hypermobility |
ORPHA:228277 |
| Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared... |
ORPHA:93352 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Joint contracture of the hand, Flattened epiphysis, Dislocated radial head, Short metacarpal, Irr... |
OMIM:612350 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:2790 |
| Ck Syndrome |
|
Retrognathia, Slender build, Micrognathia, Abnormal cortical bone morphology, Joint hypermobility... |
OMIM:300831 |
| Smith-Mccort Dysplasia 1 |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... |
OMIM:607326 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... |
ORPHA:957 |
| Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Abnormal rib cage morphology, Abnormality of carpal bone ossification, Osteopenia, Hypoplasia of ... |
OMIM:608154 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... |
ORPHA:970 |
| Metacarpal 4-5 Fusion |
|
2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa... |
OMIM:309630 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... |
ORPHA:93315 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... |
OMIM:186500 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Talipes equinovarus, Short long bone, Short thorax, Vertebral fusi... |
OMIM:618845 |
| Diaphanospondylodysostosis |
|
Enlarged thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Short t... |
ORPHA:66637 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Osteopenia, Failure to thrive, Dense metaphyseal bands, Slender build, Intrauterine growth retard... |
ORPHA:50811 |
| Kagami-Ogata Syndrome |
|
Thin ribs, Hypoplasia of the maxilla, Retrognathia, Micrognathia, Bell-shaped thorax, Kyphoscolio... |
OMIM:608149 |
| Hip Dysplasia, Beukes Type |
|
Kyphosis, Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the ... |
ORPHA:2114 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Broad-based gait, Kyphosis, Inability to walk, Lumbar hyperlordosis, Ataxia, Short stature, Scoli... |
OMIM:616756 |
| Van Den Ende-Gupta Syndrome |
|
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... |
OMIM:600920 |
| Otopalatodigital Syndrome, Type I |
|
Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation... |
OMIM:311300 |
| Acromicric Dysplasia |
|
Severe short stature, Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Delayed skeletal ... |
OMIM:102370 |
| Scheuermann Disease |
|
Osteochondrosis, Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Micrognathia, Limi... |
ORPHA:1826 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Difficulty walking, Slender build, Multiple joint contractures, Gait disturbance, Exertional dysp... |
ORPHA:352470 |
| Acrodysostosis |
|
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Mand... |
ORPHA:950 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal limb bone morphology, Abn... |
OMIM:118100 |
| Myopathic Ehlers-Danlos Syndrome |
|
Joint contracture of the hand, Micrognathia, Talipes equinovarus, Patellar subluxation, Ankle fle... |
ORPHA:536516 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint... |
ORPHA:1427 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Clinodactyly, Lumbar hyperlordosis, Limited elbow extension, 2-3 toe syndactyly, Cubitus valgus, ... |
OMIM:610313 |
| Rigid Spine Syndrome |
|
Elbow flexion contracture, Hamstring contractures, Hip contracture, Hyperlordosis, Waddling gait,... |
ORPHA:97244 |
| Symphalangism, C. S. Lewis Type |
|
Synostosis involving the 1st metacarpal |
OMIM:185650 |
| Poland Syndrome |
|
Hypoplasia of deltoid muscle, Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, ... |
OMIM:173800 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino... |
OMIM:613330 |
| Gracile Bone Dysplasia |
|
Thin ribs, Slender long bone, Flared metaphysis, Failure to thrive, Decreased skull ossification,... |
OMIM:602361 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Hip osteoarthritis, Broad hallux, Short thumb, Premature osteoarthritis, Lumbar hyperlordosis, Os... |
OMIM:165800 |
| Mucopolysaccharidosis, Type Ivb |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Dispropor... |
OMIM:253010 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia of the thumb, Abnormal metac... |
ORPHA:3266 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Lumbar hyperlordosis, Waddling gait, Unsteady gait |
ORPHA:280333 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia |
ORPHA:71289 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Dysplasia of the femoral head, Genu valgum, Micrognathia, Barrel-shaped chest, Limited elbow move... |
ORPHA:94068 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Tip-toe gait, Elbow flexion contracture, Difficulty walking, Hamstring... |
ORPHA:267 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Arthrogryposis multiplex congenita, Elbow flexion contracture, Knee flexion contracture, Hip cont... |
OMIM:600175 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
| Becker Nevus Syndrome |
|
Pectus carinatum, Micromelia, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Pectus e... |
ORPHA:64755 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... |
OMIM:313400 |
| Kbg Syndrome |
|
Delayed skeletal maturation, Finger clinodactyly, Cervical ribs, Persistent open anterior fontane... |
ORPHA:2332 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh... |
OMIM:602557 |
| Mesomelia-Synostoses Syndrome |
|
Synostosis of joints, Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal b... |
ORPHA:2496 |
| Three M Syndrome 3 |
|
Slender long bone, Short thorax, Increased vertebral height, Joint hypermobility, Decreased body ... |
OMIM:614205 |
| Greenberg Dysplasia |
|
Platyspondyly, Rhizomelia, Narrow chest, Micromelia, Abnormal pelvis bone ossification, Abnormal ... |
ORPHA:1426 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Pectus carinatum, Small for gestational age, Short femoral neck, Decreased body weight, Brachydac... |
OMIM:618392 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Lumbar hyperlordosis, Joint hypermobility, Deep palmar crease, Brachydactyly, Genu varum, Short t... |
OMIM:619451 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
| Nestor-Guillermo Progeria Syndrome |
|
Thin ribs, Microretrognathia, Growth delay, Failure to thrive, Dental malocclusion, Pathologic fr... |
OMIM:614008 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Abnormal hand morpho... |
ORPHA:93307 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ... |
OMIM:616583 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Micrognathia, Dysplastic patella, Patellar aplasia, Arachnodactyly, Talipe... |
OMIM:265000 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Rhizomelia, Radial bowing, Flared meta... |
OMIM:602111 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Short thorax, ... |
ORPHA:2311 |
| Liebenberg Syndrome |
|
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... |
OMIM:186550 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Micrognathia, Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar sc... |
OMIM:616549 |
| Masa Syndrome |
|
Shuffling gait, Hyperlordosis, Adducted thumb, Short stature, Kyphosis |
OMIM:303350 |
| Osteogenesis Imperfecta, Type Xv |
|
Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Short s... |
OMIM:615220 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Disproportionate short stature, Arthralgia of the hip, Limitatio... |
ORPHA:93308 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
| Osteogenesis Imperfecta |
|
Thin ribs, Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Mi... |
ORPHA:666 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... |
OMIM:250420 |
| Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... |
OMIM:215140 |
| Congenital Myopathy 22B, Severe Fetal |
|
Thin ribs, Tapered toe, Shoulder flexion contracture, Slender long bone, Thoracic hypoplasia, Ret... |
OMIM:620369 |
| Martsolf Syndrome 1 |
|
Micrognathia, Talipes equinovarus, Broad fingertip, Finger joint hypermobility, Short metacarpal,... |
OMIM:212720 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Knee dislocation, Micrognathia, Generalized joint hypermobility, Cervical C2/C3 verte... |
OMIM:618000 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rh... |
ORPHA:1354 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Pectus carinatum, Tip-toe gait, Difficulty walking, Slender build, Hyperlordosis, Scapular wingin... |
OMIM:620389 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... |
ORPHA:2777 |
| Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mo... |
ORPHA:3098 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... |
OMIM:603546 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Platyspondyly, Vertebral wedging, Hypoplasia of the capital femoral epiphys... |
OMIM:617719 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Clinodactyly of the 2nd finger, Genu valgum, Finger joint hypermobility, Flat acetabular roof, Jo... |
OMIM:618870 |
| Acrorenal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... |
OMIM:200980 |
| Winchester Syndrome |
|
Carpal osteolysis, Osteolysis involving tarsal bones, Arthropathy, Generalized osteoporosis, Broa... |
OMIM:277950 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Joint contracture of the hand, Difficulty walking, Hyperlordosis, Scoliosis, Waddling gait |
OMIM:611067 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec... |
OMIM:271665 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... |
ORPHA:457395 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Severe short stature, Mandibular prognathia, Cone-shaped epiphysis, Delayed cranial suture closur... |
ORPHA:2511 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormal epiphysis morphology, Abnormal femur morphology, Lower limb undergrowth, Hyperlordosis, ... |
ORPHA:2310 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Hypoplastic ilia, Osteopenia, Platyspondyly, Flared metaphysis, Carpal syno... |
OMIM:615349 |
| Acromesomelic Dysplasia 1 |
|
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... |
OMIM:602875 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Short neck, Radial head subluxat... |
OMIM:615777 |
| Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis, Ankle clonus, Loss of ambulation, Steppage gait, Unsteady gait |
OMIM:617054 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... |
OMIM:609441 |
| Arthrogryposis, Distal, Type 3 |
|
Overlapping toe, Micrognathia, Cutaneous finger syndactyly, Talipes equinovarus, Short neck, Thor... |
OMIM:114300 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Short stature, Lumbar hyperlordosis, Scoliosis, Hip contracture |
OMIM:619042 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Hypoplastic iliac wing, Postnatal growth retardation, Carpal bon... |
OMIM:611717 |
| Radial Hemimelia |
|
Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of... |
ORPHA:93321 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Popliteal pterygium, Cervical spinal canal stenosis, Carpal synostosis, Elbow contracture, Elbow ... |
OMIM:178110 |
| Acromesomelic Dysplasia 4 |
|
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... |
OMIM:619636 |
| Dysostosis, Stanescu Type |
|
Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morphology, Micromelia, Massively th... |
ORPHA:1798 |
| Anauxetic Dysplasia 1 |
|
Atlantoaxial dislocation, Hip contracture, Barrel-shaped chest, Short neck, Short foot, Hypoplast... |
OMIM:607095 |
| Cenani-Lenz Syndrome |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,... |
ORPHA:3258 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor... |
ORPHA:166002 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal thorax morphology, Narrow palm, Fused ... |
ORPHA:1445 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Tarsal synostosis, Abnormality of the ankle, Abnormality of the wrist, Carpal synostosis |
ORPHA:2010 |
| Joubert Syndrome 7 |
|
Ataxia, Episodic tachypnea, Genu valgum, Postaxial polydactyly, Tachypnea, Central apnea, Postaxi... |
OMIM:611560 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Disproportiona... |
ORPHA:168549 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna |
ORPHA:1118 |
| Hallermann-Streiff Syndrome |
|
Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Natal ... |
OMIM:234100 |
| Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... |
ORPHA:93323 |
| Gnathodiaphyseal Dysplasia |
|
Broad jaw, Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of lo... |
ORPHA:53697 |
| Heyn-Sproul-Jackson Syndrome |
|
Severe short stature, 11 pairs of ribs, Intrauterine growth retardation, Decreased body weight, B... |
OMIM:618724 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... |
OMIM:268310 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik... |
OMIM:605282 |
| Pycnodysostosis |
|
Small hand, Carious teeth, Delayed cranial suture closure, Acromelia, Hypoplastic iliac wing, Mic... |
ORPHA:763 |
| Thiemann Disease |
|
Avascular necrosis, Short phalanx of finger, Broad phalanx |
OMIM:165700 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Ivory epiphyses of the toes, Genu valgu... |
OMIM:226980 |
| Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Osteopenia, Fractured rib, Narrow chest, Metaphyseal spurs, Femoral bowing, Undulate r... |
OMIM:618188 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Short stature, Abnormal rib morphology |
ORPHA:2435 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, ... |
OMIM:612813 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Short stature, Kyphosis |
OMIM:618453 |
| Spondyloperipheral Dysplasia |
|
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo... |
OMIM:271700 |
| Schwartz-Jampel Syndrome, Type 1 |
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Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bones, Talipes e... |
OMIM:255800 |
| Chromosome 2Q35 Duplication Syndrome |
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Distal symphalangism of hands, 2-3 toe syndactyly, Cutaneous syndactyly, Sagittal craniosynostosi... |
OMIM:185900 |
| Maternal Uniparental Disomy Of Chromosome 9 |
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Abnormal vertebral morphology, Failure to thrive, Hamstring contractures, Micrognathia, Kyphoscol... |
ORPHA:96183 |
| Trichorhinophalangeal Syndrome, Type Iii |
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Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Delayed skeletal maturatio... |
OMIM:190351 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
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Pectus carinatum, Hyperplasia of the maxilla, Lumbar hyperlordosis, Butterfly vertebrae, 2-3 toe ... |
ORPHA:313892 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
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Enlarged metaphyses, Platyspondyly, Severe short stature, Lower-limb metaphyseal irregularity, Po... |
OMIM:618728 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
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Hypoplasia of the odontoid process, Broad long bones, Disproportionate short-trunk short stature,... |
OMIM:300106 |
| Neurogenic Thoracic Outlet Syndrome |
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Abnormal rib morphology |
ORPHA:100073 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
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Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Joint stiffness, Abnormal... |
ORPHA:1323 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
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Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Avascular necrosis of the ca... |
OMIM:184100 |
| Shashi-Pena Syndrome |
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Kyphosis, Retrognathia, Intrauterine growth retardation, Cervical C2/C3 vertebral fusion, Deep pa... |
OMIM:617190 |
| Microcephaly With Cervical Spine Fusion Anomalies |
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Vertebral fusion, Spinal instability |
OMIM:251250 |
| Atelosteogenesis Type Ii |
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Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Bell-shaped thorax,... |
ORPHA:56304 |
| Osseous Heteroplasia, Progressive |
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Ankylosis, Limb undergrowth, Ectopic ossification in muscle tissue |
OMIM:166350 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
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Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn... |
ORPHA:93360 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
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Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... |
ORPHA:988 |
| Spondylometaphyseal Dysplasia, X-Linked |
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Platyspondyly, Severe short stature, Pectus carinatum, Short finger, Hyperextensibility of the fi... |
OMIM:313420 |
| Achondrogenesis Type 2 |
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Hypoplastic ilia, Narrow chest, Unossified sacrum, Micromelia, Absent vertebral body mineralizati... |
ORPHA:93296 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
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Epiphyseal dysplasia, Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ... |
OMIM:215150 |
| Atypical Rett Syndrome |
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Small hand, Growth delay, Abnormal pattern of respiration, Inability to walk, Episodic tachypnea,... |
ORPHA:3095 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphol... |
ORPHA:93267 |
| Severe Congenital Nemaline Myopathy |
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Thin ribs, Abnormal thorax morphology, Adducted thumb, Multiple prenatal fractures, Flexion contr... |
ORPHA:171430 |
| Ivic Syndrome |
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Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif... |
ORPHA:2307 |
| Ck Syndrome |
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Microretrognathia, Slender build, Lumbar hyperlordosis, Kyphoscoliosis, Joint hypermobility, Long... |
ORPHA:251383 |
| Stapes Ankylosis With Broad Thumbs And Toes |
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Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Proximal/middle sympha... |
OMIM:184460 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
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Acromesomelia, Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle,... |
ORPHA:968 |
| Multiple Osteochondromas |
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Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,... |
ORPHA:321 |
| Spondylometaphyseal Dysplasia, A4 Type |
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Platyspondyly, Severe short stature, Limitation of joint mobility, Micromelia, Coxa vara, Flared,... |
ORPHA:168555 |
| Osteogenesis Imperfecta, Type Ix |
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Platyspondyly, Pectus carinatum, Dentinogenesis imperfecta, Disproportionate short-limb short sta... |
OMIM:259440 |
| Pyle Disease |
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Platyspondyly, Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption o... |
OMIM:265900 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
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Platyspondyly, Delayed skeletal maturation, Irregular acetabular roof, Metaphyseal dysplasia, Red... |
OMIM:617974 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Decreased body weight, Talip... |
OMIM:271640 |
| Langer Mesomelic Dysplasia |
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Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... |
OMIM:249700 |
| Spondylocarpotarsal Synostosis Syndrome |
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Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... |
OMIM:272460 |
| Holzgreve Syndrome |
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Joint stiffness, Intrauterine growth retardation, Abnormal morphology of ulna, Hand polydactyly, ... |
ORPHA:2167 |
| Lethal Congenital Contracture Syndrome 3 |
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Arthrogryposis multiplex congenita, Multiple joint contractures, Neonatal death |
OMIM:611369 |
| Isolated Glycerol Kinase Deficiency |
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Short stature, Osteoporosis, Scoliosis, Hyperlordosis |
ORPHA:408 |
| Pseudodiastrophic Dysplasia |
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Platyspondyly, Severe short stature, Rhizomelia, Hypoplasia of the odontoid process, Elbow disloc... |
OMIM:264180 |
| Aarskog-Scott Syndrome |
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Genu recurvatum, Small hand, Hypoplasia of the maxilla, Finger syndactyly, Delayed eruption of te... |
ORPHA:915 |
| Thrombocytopenia-Absent Radius Syndrome |
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Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
OMIM:274000 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
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Growth delay, Intrauterine growth retardation, Joint hypermobility, Cervical C2/C3 vertebral fusi... |
OMIM:617333 |
| Ruvalcaba Syndrome |
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Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Kyphosis, Abnormal ver... |
ORPHA:3121 |
| Verheij Syndrome |
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Short 5th finger, Small for gestational age, Growth delay, Clinodactyly, Retrognathia, Intrauteri... |
OMIM:615583 |
| Progressive Pseudorheumatoid Dysplasia |
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Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Abnormal foot morphology, ... |
OMIM:208230 |
| Brachytelephalangic Chondrodysplasia Punctata |
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Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Postnatal growth retar... |
ORPHA:79345 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
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Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation... |
OMIM:613686 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
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Vertebral segmentation defect, Rib fusion, Short neck, Disproportionate short-trunk short stature... |
OMIM:608681 |
| Ghosal Hematodiaphyseal Dysplasia |
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Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral... |
ORPHA:1802 |
| Achondroplasia |
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Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral... |
OMIM:100800 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
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Neutropenia |
OMIM:617014 |
| Fetal Akinesia Deformation Sequence 4 |
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Retrognathia, 11 pairs of ribs, Micrognathia, Neonatal death, Short neck, Camptodactyly, Rocker b... |
OMIM:618393 |
| Nemaline Myopathy 2 |
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Abnormal rib cage morphology, Congenital contracture, Arthrogryposis multiplex congenita, Inabili... |
OMIM:256030 |
| Keratoconus Posticus Circumscriptus |
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Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly of the 5th finger... |
OMIM:244600 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Growth delay, Bon... |
OMIM:600081 |
| Grant Syndrome |
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Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis... |
ORPHA:2097 |
| Ollier Disease |
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Platyspondyly, Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromato... |
ORPHA:296 |
| Trichorhinophalangeal Syndrome, Type I |
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Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Accelerat... |
OMIM:190350 |
| Non-Syndromic Bicoronal Craniosynostosis |
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Brachydactyly, Metacarpal synostosis |
ORPHA:35099 |
| Cartilage-Hair Hypoplasia |
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Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... |
ORPHA:175 |
| Osteosclerotic Metaphyseal Dysplasia |
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Failure to thrive, Dense metaphyseal bands, Sclerotic vertebral endplates, Clavicular sclerosis, ... |
OMIM:615198 |
| Catel-Manzke Syndrome |
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Abnormal epiphysis morphology, Failure to thrive, Camptodactyly of finger, Joint stiffness, Radia... |
ORPHA:1388 |
| Symphalangism, Distal |
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Distal symphalangism of hands, Brachydactyly, Craniosynostosis, Distal foot symphalangism, Absent... |
OMIM:185700 |
| Chondrodysplasia, Blomstrand Type |
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Abnormal vertebral morphology, Narrow chest, Micromelia, Flared metaphysis, Advanced tarsal ossif... |
OMIM:215045 |
| Fibrous Dysplasia Of Bone |
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Osteomalacia, Abnormal tibia morphology, Bowing of the long bones, Abnormal morphology of the rad... |
ORPHA:249 |
| Autosomal Recessive Multiple Pterygium Syndrome |
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Axillary pterygium, Popliteal pterygium, Limitation of joint mobility, Finger syndactyly, Arthrog... |
ORPHA:2990 |
| Cog1-Cdg |
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Posterior rib gap, Osteopenia, Rhizomelia, Failure to thrive, Postnatal growth retardation, Micro... |
ORPHA:263508 |
| Syndactyly Type 4 |
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Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... |
ORPHA:93405 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
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Failure to thrive, Neutropenia |
OMIM:616022 |
| Desbuquois Syndrome |
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Genu recurvatum, Severe short stature, Small hand, Patellar dislocation, Disproportionate short-l... |
ORPHA:1425 |
| Myasthenic Syndrome, Congenital, 16 |
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Apnea, Gait disturbance, Hyperlordosis |
OMIM:614198 |
| Hall-Riggs Syndrome |
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Platyspondyly, Failure to thrive, Delayed skeletal maturation, Intrauterine growth retardation, H... |
OMIM:234250 |
| Spastic Paraplegia 87, Autosomal Recessive |
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Spastic gait, Lumbar hyperlordosis |
OMIM:619966 |
| Epiphyseal Dysplasia, Multiple, 4 |
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Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... |
OMIM:226900 |
| Fibrodysplasia Ossificans Progressiva |
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Abnormal vertebral morphology, Synostosis of joints, Limitation of joint mobility, Failure to thr... |
ORPHA:337 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
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Short neck, Hyperlordosis, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity |
OMIM:300718 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
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Short distal phalanx of finger, Broad thumb, Camptodactyly of finger, Type B brachydactyly, Short... |
ORPHA:1471 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Short neck, Obesity, Abnormal metacarpal morphology, Abnormal morphology of ulna |
ORPHA:2233 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
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Narrow chest, Limitation of joint mobility, Joint hypermobility, Gait disturbance, Hyperlordosis,... |
ORPHA:157973 |
| Odontochondrodysplasia |
|
Platyspondyly, Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone... |
ORPHA:166272 |
| Pfeiffer Syndrome |
|
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Short neck, Brachydactyly, Hyperlordo... |
ORPHA:710 |
| Craniosynostosis, Adelaide Type |
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Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Hallux valgus, Co... |
OMIM:600593 |
| Fanconi Anemia, Complementation Group I |
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Absent thumb, Short thumb, Short 1st metacarpal, Intrauterine growth retardation, Decreased body ... |
OMIM:609053 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h... |
OMIM:616007 |
| Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Small for gestational age, Narrow chest... |
OMIM:616229 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Lumbar h... |
OMIM:602471 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Broad-based gait, Tip-toe gait, Difficulty walking, Lumbar hyperlordosis, Gait imbalance, Steppag... |
ORPHA:435387 |
| Thoracolaryngopelvic Dysplasia |
|
Slender build, Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, S... |
OMIM:187760 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... |
ORPHA:2141 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Tetrasomy X |
|
Joint hypermobility, Radioulnar synostosis, Brachydactyly, Hip dysplasia, Clinodactyly of the 5th... |
ORPHA:9 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... |
OMIM:617405 |
| Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irregu... |
OMIM:602271 |
| Mucolipidosis Iii Gamma |
|
Pectus carinatum, Joint stiffness, Genu valgum, Claw hand deformity, Flared iliac wing, Short nec... |
OMIM:252605 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge... |
OMIM:130060 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum... |
ORPHA:2831 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Cone-shaped epiphysis, Obesity, Intrauterine growth retardation, Brachydac... |
OMIM:614613 |
| Bethlem Myopathy 2 |
|
Hip dislocation, Scapular winging, Distal joint hypermobility, Scoliosis, Kyphosis, Flexion contr... |
OMIM:616471 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... |
OMIM:206920 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ... |
OMIM:143095 |
| Craniodiaphyseal Dysplasia |
|
Short stature, Craniofacial hyperostosis, Diaphyseal undertubulation, Abnormal rib morphology |
ORPHA:1513 |
| Lethal Recessive Chondrodysplasia |
|
Narrow chest, Micromelia, Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb... |
ORPHA:1423 |
| Hand-Foot-Genital Syndrome |
|
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ... |
ORPHA:2438 |
| Pde4D Haploinsufficiency Syndrome |
|
Postnatal growth retardation, Micrognathia, Broad phalanx, Bilateral coxa valga, Short metacarpal... |
ORPHA:439822 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender long bone, Abnormal ... |
ORPHA:1486 |
| Intellectual Developmental Disorder, X-Linked 19 |
|
Long foot, Scoliosis, Small for gestational age, Kyphoscoliosis |
OMIM:300844 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finger, Abnormal... |
ORPHA:2631 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Failure to thrive, Obesity, Micrognathia, Rib fusion, Hand polydac... |
ORPHA:261197 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Short distal phalanx of finger, Pectus carinatum, Cone-shaped epiphysis, Camptodactyly of finger,... |
ORPHA:77258 |
| Congenital Myopathy 16 |
|
Lumbar hyperlordosis, Micrognathia, Scapular winging, Flexion contracture, Scoliosis, Spinal rigi... |
OMIM:618524 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
