| Ulnar Hemimelia |
|
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... |
ORPHA:93320 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Wrist pain, Abnormal morphology of the radius, Radioulnar sy... |
ORPHA:3269 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Vertebral segmentation defect, Abnor... |
ORPHA:1570 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Genu varum, Hyperlordosis, Progressive leg bowing, Short lower limbs, Hip dysplasia, Disproportio... |
ORPHA:2501 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Knee flexion contracture, Hip contracture, Congenital foot contractures, Short stature, Narrow pe... |
OMIM:602484 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs due to multiple fractures, Denti... |
OMIM:259420 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:1275 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Disproportionate short stature, Ovoid vertebral bodie... |
ORPHA:40 |
| Metaphyseal Anadysplasia |
|
Abnormal ulnar metaphysis morphology, Joint stiffness, Abnormal morphology of ulna, Aplasia/Hypop... |
ORPHA:1040 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Short femoral neck, Shor... |
OMIM:618395 |
| Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Short neck, Ovoid vertebral... |
OMIM:151210 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
| Syndactyly, Type V |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Vertebral segmen... |
ORPHA:1836 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
| 3M Syndrome |
|
Horizontal ribs, Enlarged thorax, Delayed eruption of teeth, Short neck, Delayed skeletal maturat... |
ORPHA:2616 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Rhizomelia, Short stature, Distal ... |
OMIM:300863 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Lum... |
ORPHA:174 |
| Tarsal-Carpal Coalition Syndrome |
|
Proximal symphalangism of hands, Progressive fusion 2nd-5th pip joints, Short 1st metacarpal, Hum... |
OMIM:186570 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Short stature, Vertebral segmentation defect, Hypoplasia of the odontoid process, Super... |
OMIM:609813 |
| Diastrophic Dysplasia |
|
Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Small for gestational age, S... |
OMIM:222600 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Irregular vertebral endplates, Generali... |
OMIM:132400 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Bell-shaped thorax, Thoracic hypoplasia, Recurrent fractures, Small for gest... |
OMIM:166210 |
| Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... |
OMIM:112910 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip subluxation, Hip osteoarthritis, Flattened femoral head, Difficulty walking, Disproportionate... |
ORPHA:99642 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad femoral neck, Genu valgum, Upper limb undergrowth, Enlargement of the costochondral junctio... |
OMIM:271650 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Genu varum, Genu valgum, Broad femoral neck, Intervertebral space narrowing, Irregular vertebral ... |
OMIM:609223 |
| Osteogenesis Imperfecta, Type Viii |
|
Femoral retroversion, Multiple prenatal fractures, Dentinogenesis imperfecta, Recurrent fractures... |
OMIM:610915 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Thin clavicles, Small hand, Calvarial osteosclerosis, Stenosis of... |
ORPHA:93324 |
| Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Synostosis of carpal ... |
ORPHA:3250 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... |
ORPHA:2639 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... |
OMIM:177170 |
| Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Radioulnar synostosis, Limited pronation/supination of forearm |
OMIM:179300 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Short stature, Clinodactyly of the 5th finger, Radio... |
ORPHA:3268 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal joint morphology, Abnormal carpal... |
ORPHA:93351 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Flexion contracture, Flared iliac wing, Short neck, Flattened epiphysis, Delayed skeletal maturat... |
OMIM:300232 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Generalized bone demineralization, Short 5th finger, Abnormal bone ossification, Triangular shape... |
ORPHA:73230 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Increased susceptibility to fractures, Epiphyseal streaking, Dentinogenesis imperfecta, Delayed c... |
OMIM:604922 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Advanced ossification of carpal bones, Coxa valga, Thoracic hypoplasia, Micrognathia, Flattened e... |
OMIM:618363 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... |
ORPHA:93406 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Spondylolysis, Ankle clonus, Spondylolisthesis at L5-S1, Short stature, Atlantoaxial dislocation,... |
OMIM:600561 |
| Distal Symphalangism |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... |
ORPHA:3248 |
| Brachyolmia Type 1, Hobaek Type |
|
Intervertebral space narrowing, Back pain, Short femoral neck, Kyphosis, Short long bone, Squared... |
OMIM:271530 |
| Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Short neck, Widely patent coronal ... |
OMIM:228520 |
| Thoracomelic Dysplasia |
|
Bell-shaped thorax, Genu valgum, Hyperlordosis, Short ribs, Gait disturbance, Abnormal pelvic gir... |
ORPHA:1803 |
| Kniest Dysplasia |
|
Dumbbell-shaped long bone, Short neck, Delayed patellar ossification, Abnormal cartilage collagen... |
ORPHA:485 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Genu varum, Metaphyseal irregularity, Coxa vara, Short femoral neck, Short stature, Corner fractu... |
OMIM:184255 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Thoracic hypoplasia, Short stature, Pectus excavatum, Bowing of the legs, Waddling gait, Dispropo... |
ORPHA:156728 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... |
OMIM:607778 |
| Banki Syndrome |
|
Synostosis of carpal bones, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brach... |
ORPHA:1228 |
| Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
| Multiple Synostoses Syndrome 3 |
|
Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... |
OMIM:612961 |
| Osteogenesis Imperfecta, Type X |
|
Thin bony cortex, Thoracic hypoplasia, Micrognathia, Short femur, Fibular bowing, Dentinogenesis ... |
OMIM:613848 |
| Acrocapitofemoral Dysplasia |
|
Genu varum, Hyperlordosis, Short thorax, Coxa vara, Short stature, Flared iliac wing, Cone-shaped... |
ORPHA:63446 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... |
ORPHA:157801 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
| Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
| Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Calvarial osteosclerosis,... |
OMIM:244460 |
| Myosclerosis, Autosomal Recessive |
|
Thoracolumbar scoliosis, Short stature, Spinal rigidity, Achilles tendon contracture, Reduced for... |
OMIM:255600 |
| Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Abnormal bone ossification, Finger syndactyly, Narrow chest, Ab... |
ORPHA:1263 |
| Three M Syndrome 2 |
|
Hyperlordosis, Dental malocclusion, Short thorax, Short 5th finger, Short stature, Delayed erupti... |
OMIM:612921 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Retrognathia, Decreased body weight, Short stature, Slender long bone, Micrognathia, Decreased ca... |
OMIM:618265 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Short stature, Hip dysplasia, Preaxial foot polydacty... |
ORPHA:1988 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Beaking of vertebral bodies, Narrow greater sciatic notch, Mesomelic arm shortening, Lumbar hyper... |
OMIM:609616 |
| Brachydactyly, Type B2 |
|
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... |
OMIM:611377 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Short stature, Fused cervical vertebrae, Micrognathia, Pectus excavatum,... |
ORPHA:2522 |
| Steel Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Hip dislocation, Carpal synostosis, Dislocated radial ... |
OMIM:615155 |
| Dysspondyloenchondromatosis |
|
Genu valgum, Joint dislocation, Generalized joint laxity, Short stature, Vertebral segmentation d... |
ORPHA:85198 |
| Metatropic Dysplasia |
|
Flexion contracture, Flared iliac wing, Long coccyx, Delayed skeletal maturation, Enlarged joints... |
OMIM:156530 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Wrist swelling, Flat capital femoral epiphysis, Camptodactyly, Polyarticular arthropathy, General... |
ORPHA:1159 |
| Atelosteogenesis, Type I |
|
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbo... |
OMIM:108720 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Biconcave vertebral bodies, Recurrent fractures, Micrognathia, Joint laxity, Jo... |
OMIM:617952 |
| Brachydactyly, Type B1 |
|
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Wi... |
OMIM:113000 |
| Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, Recurrent fractures, Kyphosis, Short stature, Coronal craniosynostosis... |
OMIM:616294 |
| Symphalangism, Proximal, 1A |
|
Proximal symphalangism of hands, Metacarpophalangeal synostosis, Aplasia/Hypoplasia of the middle... |
OMIM:185800 |
| Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
| Hypochondroplasia |
|
Short toe, Genu varum, Hyperlordosis, Abnormality of the elbow, Spinal canal stenosis, Micromelia... |
ORPHA:429 |
| Odontochondrodysplasia 1 |
|
Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Genu recurvatum, Dentinoge... |
OMIM:184260 |
| Eiken Syndrome |
|
Short phalanx of finger, Thin bony cortex, Abnormal trabecular bone morphology, Narrow pelvis bon... |
ORPHA:79106 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
| Anauxetic Dysplasia 2 |
|
Hyperlordosis, Flexion contracture, Coxa valga, Coxa vara, Short femoral neck, Short stature, Pos... |
OMIM:617396 |
| Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
| Rigid Spine Syndrome |
|
Respiratory insufficiency, Hyperlordosis, Hip contracture, Spinal rigidity, Elbow flexion contrac... |
ORPHA:97244 |
| Synostoses, Tarsal, Carpal, And Digital |
|
Metacarpophalangeal synostosis, Short metacarpal, Carpal synostosis, Aplasia/Hypoplasia of the mi... |
OMIM:186400 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Thoracic hemivertebrae, Fused cervical vertebrae, Abnormal sacrum morphology, Scol... |
ORPHA:1436 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Posterior rib fusion, Butterfl... |
OMIM:122600 |
| Otopalatodigital Syndrome Type 1 |
|
Abnormality of the tarsal bones, Increased bone mineral density, Synostosis of carpal bones, Abno... |
ORPHA:90650 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Tip-toe gait, Kyphosis, Hip dysplasia, ... |
OMIM:615290 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morph... |
ORPHA:3104 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Patellar dislocation, Tibial torsion, Fused cervical v... |
ORPHA:3320 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Absent phalangeal crease, Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, S... |
OMIM:618469 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Short stature, Block vertebrae, Vertebral segmentation defect, Sever... |
OMIM:277300 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Limb pain... |
ORPHA:93284 |
| Kyphomelic Dysplasia |
|
Short thorax, Anterior rib cupping, Micrognathia, Flat acetabular roof, Missing ribs, Limitation ... |
ORPHA:1801 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Respiratory insufficiency, Hyperlordosis, Tip-toe gait, Kyphosis, Short stature, Spinal rigidity,... |
OMIM:617404 |
| Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
| Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Radioulnar dislocatio... |
ORPHA:2741 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Genu valgum, Metaphyseal irregularity, Hypoplastic pubic bone, Coxa vara, Anterior... |
OMIM:184250 |
| Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:312150 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Thoracic hypoplasia, Pectus excavatum, Ovoid vertebral bodies, Limited elbow extension, Narrow gr... |
OMIM:608728 |
| Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Elbow dislocation,... |
ORPHA:2634 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Patellar dislocation, Short thumb, Triangular sh... |
OMIM:618167 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Hypoplastic acetabulae, Butterfly vertebrae, Short neck, Arthrogryposis multiplex co... |
OMIM:620076 |
| Brachydactyly, Type A1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Flattened metatarsal heads, Short metacar... |
OMIM:112500 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short n... |
ORPHA:2345 |
| Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Delayed eruption of teeth, Elbow ... |
OMIM:305620 |
| Parastremmatic Dwarfism |
|
Genu valgum, Flexion contracture, Kyphosis, Severe short stature, Short neck, Scoliosis, Bowing o... |
OMIM:168400 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Rhizomelia, Short stature, Micr... |
ORPHA:163966 |
| Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Hallux valgus, Ectopic ossification in ligament tissue, Short 1st metacarpal,... |
OMIM:135100 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:253290 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Coarse metaphy... |
ORPHA:2635 |
| Mucolipidosis Type Iii |
|
Hyperlordosis, Short stature, Large iliac wing, Hypoplastic inferior ilia, Craniofacial hyperosto... |
ORPHA:577 |
| Three M Syndrome 1 |
|
Short 5th finger, Hip dislocation, Pectus excavatum, Spina bifida occulta, Short neck, Delayed sk... |
OMIM:273750 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormality of fibula morphology, Abnormal metacarpal morphology, Abnormal morphology of ulna, Ap... |
ORPHA:1837 |
| Weismann-Netter Syndrome |
|
Kyphosis, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna,... |
ORPHA:3344 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Micrognathia, Camptodactyly, Metatarsus adductus, Dislocated radial head, Pectus excavatum, Later... |
OMIM:182212 |
| Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Chondrocalcinosis, Arthropathy, Osteoarthritis of the small joints of the hand, Costal cartilage ... |
OMIM:118610 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Intervertebral space narrowing, Patellar dislocation, Capitate-hamate fus... |
OMIM:614078 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal cupping of proximal phalanges, Metaphyseal chondrodysplasia, Irregular acetabular roo... |
OMIM:156500 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Short 1st metacarpal, Short stature, Broad middle phalanx of finger, Delayed ossification of carp... |
OMIM:182255 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Short stature, Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic rid... |
OMIM:309620 |
| Atelosteogenesis, Type Ii |
|
Thoracic hypoplasia, Micrognathia, Short neck, Limb undergrowth, Lacunar halos around chondrocyte... |
OMIM:256050 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Sacral dimple, Finger syndactyly, Radioulnar sy... |
ORPHA:2633 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal bone ossification, Thin metatarsal cortices, Slender long bone, Small hypothenar eminenc... |
ORPHA:2463 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hyperlordosis, Congenital foot contraction deformities, Flexion contracture, Hip dysplasia, Diffi... |
ORPHA:363454 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Genu varum, Broad femoral neck, Patellar hypoplasia, Generalized joint laxity, Short femoral neck... |
OMIM:609325 |
| Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... |
ORPHA:93397 |
| Mucopolysaccharidosis Type 4 |
|
Coxa valga, Grayish enamel, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Abn... |
ORPHA:582 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Osteoporotic tarsals, Coxa valga, Sclerotic humeral metaphysis, Irregular capital femoral epiphys... |
OMIM:609052 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Radial bowing, Tarsal synostosis, Carpal synostosis |
OMIM:156232 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Short phalanx of finger, Hallux valgus, Short metacarpal, Short stature, Short thumb, Limitation ... |
OMIM:151200 |
| Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Hip dislocation, Butterfly vertebrae, Short neck, Rudimentary to absent tibiae, Hyp... |
ORPHA:958 |
| Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Scoliosis, Tibial torsion |
OMIM:188800 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis |
OMIM:613702 |
| Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Coxa valga, Micrognathia, Osteochondritis dissecans, Camptodactyly, Elbow di... |
OMIM:224690 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Hyperlordosis, Thoracic scoliosis, Tip-toe gait, Achilles tendon contracture, Limited shoulder mo... |
ORPHA:62 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Bell-shaped thorax, Iliac crest serration, Metaphyseal cupping, ... |
OMIM:613320 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... |
ORPHA:1797 |
| Smith-Mccort Dysplasia 2 |
|
Short phalanx of finger, Decreased body weight, Flattened femoral head, Short neck, Flattened epi... |
OMIM:615222 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Joint stiffness, Abn... |
ORPHA:2064 |
| Femur-Fibula-Ulna Complex |
|
Finger syndactyly, Humeroradial synostosis, Abnormality of the elbow, Abnormal morphology of ulna... |
ORPHA:2019 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Microgn... |
OMIM:601559 |
| Lamb-Shaffer Syndrome |
|
Thoracic kyphosis, Fused cervical vertebrae, Hip dysplasia, Mild postnatal growth retardation, Mi... |
ORPHA:530983 |
| Campomelic Dysplasia |
|
Short phalanx of finger, Thoracic hypoplasia, Hallux valgus, Micrognathia, Hip dislocation, Trach... |
OMIM:114290 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Short stature, Metaphyse... |
OMIM:250460 |
| Diastrophic Dysplasia |
|
Camptodactyly of finger, Increased bone mineral density, Micrognathia, Elbow dislocation, Hypopla... |
ORPHA:628 |
| Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb... |
OMIM:127300 |
| Osteochondrosis Of The Metatarsal Bone |
|
Pedal edema, Avascular necrosis, Abnormality of the fifth metatarsal bone, Flattened metatarsal h... |
ORPHA:564003 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed cranial suture closure, Delayed eruption of teeth, Micrognathia, Palmoplantar hyperkerato... |
OMIM:601812 |
| Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia |
|
Dislocated radial head, Radioulnar synostosis |
OMIM:266255 |
| Achondroplasia |
|
Thoracic hypoplasia, Short proximal phalanx of finger, Limb undergrowth, Limited elbow extension,... |
ORPHA:15 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Hyperlordosis, Joint contracture of the hand, Waddling gait, Difficulty walking, Scoliosis, Respi... |
OMIM:611067 |
| Ruvalcaba Syndrome |
|
Short phalanx of finger, Short foot, Short metacarpal, Small hand, Kyphosis, Short stature, Micro... |
OMIM:180870 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Micrognathia, Camptodactyly, Butterfly vertebrae, Short neck, Posterior rib gap, Postnatal growth... |
OMIM:611209 |
| Dyggve-Melchior-Clausen Disease |
|
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow greater sciati... |
OMIM:223800 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Respiratory insufficiency, Hip contracture, Short stature, Scoliosis, Lumbar hyperlordosis |
OMIM:619042 |
| Brachydactyly Type A1 |
|
Short foot, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, Distal symphala... |
ORPHA:93388 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Hyperlordosis, Multiple joint contractures, Exertional dyspnea, Gait disturbance, Difficulty walk... |
ORPHA:352470 |
| Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Lumbar kyphosis, C... |
OMIM:253000 |
| Hypochondroplasia |
|
Genu varum, Short femoral neck, Short long bone, Lumbar hyperlordosis, Brachydactyly, Flared meta... |
OMIM:146000 |
| Ring Chromosome 4 Syndrome |
|
Abnormal morphology of ulna, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Spl... |
ORPHA:1447 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Short phalanx of finger, Tapered finger, Delayed eruption of teeth, Flat... |
OMIM:612350 |
| Multiple Metaphyseal Dysplasia |
|
Hyperlordosis, Aplasia/Hypoplasia of the thumb, Abnormal metaphysis morphology, Short stature, Ga... |
ORPHA:93430 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Thoracic hypoplasia, Squared-off platyspondyly, Premature osteoarthritis, Short neck, Limb underg... |
ORPHA:93352 |
| Acropectorovertebral Dysplasia |
|
Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Broa... |
ORPHA:957 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Corner fracture of metaphysis, Limb pain, Short neck, Ovoid vertebral bodie... |
ORPHA:93315 |
| Langer Mesomelic Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Short femoral neck, Abnormal carpal morphology, Ulnar deviation... |
ORPHA:2632 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
| Hip Dysplasia, Beukes Type |
|
Broad femoral neck, Abnormal bone ossification, Abnormality of the epiphysis of the femoral head,... |
ORPHA:2114 |
| Metacarpal 4-5 Fusion |
|
4-5 metacarpal synostosis, 2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of th... |
OMIM:309630 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Narro... |
ORPHA:66637 |
| Van Den Ende-Gupta Syndrome |
|
Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slender metacarpals, Pect... |
OMIM:600920 |
| Kagami-Ogata Syndrome |
|
Retrognathia, Bell-shaped thorax, Flexion contracture, Coxa valga, Micrognathia, Hypoplasia of th... |
OMIM:608149 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Short femoral neck, Slender long bones with narrow diaphyses, Slender build, Small f... |
OMIM:608154 |
| Multiple Synostoses Syndrome 1 |
|
2-3 toe syndactyly, Dislocated radial head, Short hallux, Radial deviation of finger, Proximal/mi... |
OMIM:186500 |
| Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized ... |
ORPHA:2790 |
| Familial Anetoderma |
|
Abnormality of tibia morphology, Generalized joint laxity, Lumbar hyperlordosis |
ORPHA:228277 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Inability to walk, Kyphosis, Short stature, Hip dislocation, Ataxia, Waddling gait, Scoliosis, Br... |
OMIM:616756 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis, Foot acroosteolysis, Abnormality of the knee, Tapered finger, Abnormality of the a... |
ORPHA:970 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Micrognathia, Pectus excavatum, Dislocated radial head, Radial de... |
OMIM:268310 |
| Ck Syndrome |
|
Retrognathia, Hyperlordosis, Kyphosis, Micrognathia, Abnormal cortical bone morphology, Joint hyp... |
OMIM:300831 |
| Otopalatodigital Syndrome, Type I |
|
Delayed closure of the anterior fontanelle, Short 4th metacarpal, Coxa valga, Abnormality of the ... |
OMIM:311300 |
| Scheuermann Disease |
|
Osteochondrosis, Morbus Scheuermann, Kyphosis |
OMIM:181440 |
| Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Coxa valga, Narrow pelvis bone, Short palm, Short toe, Accelerated skele... |
OMIM:250215 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Horizontal ribs, Short 4th metacarpal, Thoracic hypoplasia, Camptodactyly, Broad hallux, Limb und... |
OMIM:618019 |
| Greenberg Dysplasia |
|
Abnormal bone ossification, Rhizomelia, Abnormally ossified vertebrae, Micrognathia, Abnormal pel... |
ORPHA:1426 |
| Acromicric Dysplasia |
|
Short phalanx of finger, Short foot, Short metacarpal, Short long bone, Fifth metacarpal with uln... |
OMIM:102370 |
| Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Synd... |
OMIM:173800 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Flexion contracture, Hip dislocation, Pseudoepiphyses of hand bones, Butterfly vertebrae, Short n... |
OMIM:613330 |
| Mucolipidosis Iii Gamma |
|
Hyperlordosis, Genu valgum, Kyphosis, Short stature, Flared iliac wing, Flat capital femoral epip... |
OMIM:252605 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Genu varum, Genu valgum, Abnormality of the knee, Knee pain, Coxa vara, Short stature, Abnormalit... |
ORPHA:166002 |
| Symphalangism, C. S. Lewis Type |
|
Synostosis involving the 1st metacarpal |
OMIM:185650 |
| Frontometaphyseal Dysplasia |
|
Camptodactyly of finger, Wrist flexion contracture, Short diaphyses, Short phalanx of finger, Mic... |
ORPHA:1826 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Restrictive ventilator... |
OMIM:608681 |
| Smith-Mccort Dysplasia 1 |
|
Short phalanx of finger, Genu varum, Genu valgum, Delayed femoral head ossification, Hypoplastic ... |
OMIM:607326 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Short stature, Slender long bones with narrow diaphyses, Small for gestational age, Failure to th... |
ORPHA:50811 |
| Becker Nevus Syndrome |
|
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Upper limb asymmetry, Abnor... |
ORPHA:64755 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Waddling gait, Unsteady gait, Ankle flexion contracture, Lumbar hyperlordosis |
ORPHA:280333 |
| Myopathic Ehlers-Danlos Syndrome |
|
Foot joint contracture, Flexion contracture, Tapered finger, Multiple joint contractures, Patella... |
ORPHA:536516 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Wrist flexion contracture, Congenital finger flexion contractures, Flexion contracture, Hyperlord... |
ORPHA:267 |
| Ivic Syndrome |
|
Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limited elbow movement, Short 1st meta... |
OMIM:147750 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Vertebral fusion, Short thorax, Short long bone, Vertebral segmentation defect, Ta... |
OMIM:618845 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hypoplastic iliac wing, Hump-shaped mound of bone in central and posterior portions of vertebral ... |
OMIM:313400 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Coxa valga, Hypoplastic ilia, Vertebral wedging, Internal tibial torsion, Kyphoscolio... |
OMIM:616583 |
| Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormal metacarpal morphology, Radioulnar syno... |
ORPHA:3266 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran... |
ORPHA:766 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Micrognathia, Short femur, Aplasia/hypoplasia involving bones of the extremities, Short neck, Dis... |
ORPHA:94068 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Vertebral hypoplasia, Short neck, Limb undergrowth, Narrow greater sciatic notch, Lumbar hyperlor... |
OMIM:602557 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Decreased body weight, Short femoral neck, Kyphosis, Short stature, Small for gestational age, De... |
OMIM:618392 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... |
OMIM:265000 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Short stature, Asymmetric radi... |
OMIM:171480 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... |
ORPHA:240 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short neck, Scoliosis, Abnormal rib... |
OMIM:118100 |
| Osteogenesis Imperfecta |
|
Flexion contracture, Thoracic hypoplasia, Delayed eruption of teeth, Micrognathia, Pectus excavat... |
ORPHA:666 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, Metatarsal synostosis,... |
ORPHA:93307 |
| Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Genu varum, Flared, irregular rib ends, Metaphyseal cupping, Pear-... |
OMIM:602111 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
| Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Constricted iliac ... |
OMIM:253010 |
| Gracile Bone Dysplasia |
|
Short stature, Slender long bone, Failure to thrive, Flared metaphysis, Decreased skull ossificat... |
OMIM:602361 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Thoracolumbar scoliosis, 2-3 toe syndactyly, Clinodactyly, Limited elbow extension, Cubitus valgu... |
OMIM:610313 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Flexion contracture, Short stature, Micrognathia, Acetabular dysplasia, ... |
OMIM:616549 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Kyphosis, Elbow flexion contracture, Sc... |
OMIM:600175 |
| Masa Syndrome |
|
Hyperlordosis, Shuffling gait, Short stature, Kyphosis, Adducted thumb |
OMIM:303350 |
| Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Short stature, Joint hypermobilit... |
OMIM:615220 |
| Kbg Syndrome |
|
Vertebral fusion, Short stature, Thoracic kyphosis, Cervical ribs, Single transverse palmar creas... |
ORPHA:2332 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Short thorax, Finger syndactyly, Kyphosis, Short stature, Vertebral segm... |
ORPHA:2311 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Short stature, Hip osteoarthritis, Osteochondritis dissecans, Accelerated skeletal maturation, Br... |
OMIM:165800 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Genu varum, Short thorax, Short stature, Hip dislocation, Joint laxity, Clinodactyly of the 5th f... |
OMIM:619451 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Flat glenoid fossa, Short palm, Lumbar hyperlordosis, Metaphyseal irregularity, Genu valgum, Shor... |
OMIM:250420 |
| Winchester Syndrome |
|
Kyphosis, Arthropathy, Generalized osteoporosis, Broad metacarpals, Carpal osteolysis, Osteolysis... |
OMIM:277950 |
| Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Abnormal cortical bone morphology, Scoliosis, Sclerotic... |
ORPHA:2777 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Coxa vara, Micromelia, Limitation of joint mobility, Severe short sta... |
ORPHA:168555 |
| Joubert Syndrome 7 |
|
Neonatal breathing dysregulation, Genu valgum, Episodic tachypnea, Ataxia, Scoliosis, Central apn... |
OMIM:611560 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short phalanx of finger, Avascular necrosis of the capital femoral epiphysis, Short foot, Short m... |
OMIM:190351 |
| Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Accelerated skeletal maturation, Disproportionate... |
ORPHA:1354 |
| Nemaline Myopathy 2 |
|
Polyhydramnios, Hyperlordosis, Flexion contracture, Inability to walk, Spinal rigidity, Gait dist... |
OMIM:256030 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Stippling of the epiphyses of the distal phalanges of the hand, Vertebral hypoplasia, Epiphyseal ... |
ORPHA:79345 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... |
OMIM:118651 |
| Axial Spondylometaphyseal Dysplasia |
|
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Mild postnatal ... |
ORPHA:168549 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Vertebral wedging, Flat ac... |
OMIM:617719 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Delayed cranial suture closure, Hyperlordosis, Mandibular prognathia, Cone-shaped epiphysis, Abno... |
ORPHA:2511 |
| Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, Wide anterior fontanel, ... |
ORPHA:3098 |
| Acrorenal-Mandibular Syndrome |
|
Abnormal sacral segmentation, Toe syndactyly, Micrognathia, Elbow flexion contracture, Hip disloc... |
OMIM:200980 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... |
ORPHA:457395 |
| Martsolf Syndrome 1 |
|
Short phalanx of finger, Finger joint hypermobility, Micrognathia, Metatarsus adductus, Pectus ex... |
OMIM:212720 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Shoulder dislocation, Generalized joint laxity, Hallux valgus, Facet joint arthrosis, Micrognathi... |
OMIM:618000 |
| Nestor-Guillermo Progeria Syndrome |
|
Dental malocclusion, Delayed closure of the anterior fontanelle, Flexion contracture, Limited elb... |
OMIM:614008 |
| Dystonia With Ringbinden |
|
Hyperlordosis, Gait disturbance |
OMIM:224550 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Hyperlordosis, Lower limb undergrowth, Scoliosis, Abnormality of femur morphology, Abnormal epiph... |
ORPHA:2310 |
| Greenberg Dysplasia |
|
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Tetr... |
OMIM:215140 |
| Arthrogryposis, Distal, Type 3 |
|
Camptodactyly of finger, Short phalanx of finger, Ulnar deviation of the hand or of fingers of th... |
OMIM:114300 |
| Mesomelia-Synostoses Syndrome |
|
Genu valgum, Abnormality of the knee, Abnormality of the humerus, Synostosis of carpal bones, Abn... |
ORPHA:2496 |
| Radial Hemimelia |
|
Aplasia of the 1st metacarpal, Deviation of the hand or of fingers of the hand, Abnormality of th... |
ORPHA:93321 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Genu varum, Genu valgum, Knee pain, Avascular necrosis of the capital femoral epiphysis, Finger j... |
ORPHA:93308 |
| Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Coxa valga, Advanced ossification of carpal bones, Hip dislocation, Pect... |
OMIM:615777 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Increased susceptibility to fractures, Advanced ossification of carpal bones, Hypoplastic ilia, D... |
OMIM:615349 |
| Three M Syndrome 3 |
|
Hyperlordosis, Short thorax, Increased vertebral height, Decreased body weight, Short stature, Sm... |
OMIM:614205 |
| Acromesomelic Dysplasia 1 |
|
Short phalanx of finger, Ovoid vertebral bodies, Limited elbow extension, Beaking of vertebral bo... |
OMIM:602875 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Respiratory insufficiency, Hyperlordosis, Flexion contracture, Spinal rigidity, Gait disturbance,... |
ORPHA:157973 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short phalanx of finger, Hip subluxation, Thoracic hypoplasia, Progressive calcification of costo... |
OMIM:271665 |
| Thanatophoric Dysplasia, Type Ii |
|
Respiratory insufficiency, Polyhydramnios, Metaphyseal irregularity, Hypoplastic ilia, Short ribs... |
OMIM:187601 |
| Acrodysostosis |
|
Short toe, Mandibular prognathia, Short metacarpal, Short stature, Hypoplasia of the radius, Dela... |
ORPHA:950 |
| Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Beaking of vertebral bodies, Thoracic platyspondyly, Lumbar hyperlordosi... |
OMIM:619636 |
| Brachyolmia Type 1, Toledo Type |
|
Intervertebral space narrowing, Irregular vertebral endplates, Back pain, Short femoral neck, Bro... |
OMIM:271630 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Flexion contracture, Kyphosis, Spinal rigidity, Short neck, Scoliosis, Respiratory... |
OMIM:300718 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Tarsal synostosis, Abnormality of the ankle, Abnormality of the wrist, Carpal synostosis |
ORPHA:2010 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Knee flexion contracture, Vertebral fusion, Hip contracture, Cutaneous finger syndactyly, Multipl... |
OMIM:178110 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
| Duchenne And Becker Muscular Dystrophy |
|
Hyperlordosis, Slender long bone, Scoliosis, Joint stiffness, Reduced bone mineral density |
ORPHA:262 |
| Striatonigral Degeneration, Childhood-Onset |
|
Ankle clonus, Loss of ambulation, Steppage gait, Unsteady gait, Lumbar hyperlordosis |
OMIM:617054 |
| Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Thoracic hypoplasia, Coxa vara, Short femoral neck, Rhizomelia, Short statu... |
OMIM:602271 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short stature, Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe, Short thumb |
OMIM:618453 |
| Anauxetic Dysplasia 1 |
|
Elbow flexion contracture, Atlantoaxial dislocation, Short neck, Limited elbow extension, Short p... |
OMIM:607095 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, ... |
OMIM:608940 |
| Otospondylomegaepiphyseal Dysplasia |
|
Short phalanx of finger, Micrognathia, Short neck, Limb undergrowth, Fibular bowing, Enlarged joi... |
ORPHA:1427 |
| Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Massively thickened long bone cortices, Short stature, Increased bone mi... |
ORPHA:1798 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Short stature, Thoracic hemivertebrae, Abnormal thorax morphology, Clinodactyly, Synd... |
ORPHA:1445 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
2-3 toe syndactyly, Finger joint hypermobility, Butterfly vertebrae, Pectus excavatum, Limited el... |
OMIM:618870 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Split hand |
ORPHA:1118 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Flexion contracture, Thoracic hypoplasia, Rhizo-meso-acromelic limb shor... |
OMIM:611717 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, Brachydacty... |
OMIM:605282 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Fused cervical vertebrae, Short neck, Cervical C2/C3 vertebral fusion, Scoliosis |
OMIM:214300 |
| Achondrogenesis Type 2 |
|
Unossified sacrum, Abnormal bone ossification, Hypoplastic ilia, Short stature, Short long bone, ... |
ORPHA:93296 |
| Heyn-Sproul-Jackson Syndrome |
|
Short phalanx of finger, 11 pairs of ribs, Decreased body weight, Short metacarpal, Broad phalanx... |
OMIM:618724 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hip subluxation, Coxa valga, Irregular carpal bones, Ivory epiphyses of the phalanges of the hand... |
OMIM:226980 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... |
OMIM:609441 |
| Hallermann-Streiff Syndrome |
|
Hyperlordosis, Dental malocclusion, Natal tooth, Small for gestational age, Slender long bone, Mi... |
OMIM:234100 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Sagittal craniosynostosis, Distal symphalangism of hands, 3-4 finger syndacty... |
OMIM:185900 |
| Pycnodysostosis |
|
Delayed cranial suture closure, Increased bone mineral density, Micrognathia, Hypoplastic iliac w... |
ORPHA:763 |
| Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Short phalanx of finger, Short lower limbs, Delayed ossification of carpal bones, Lower limb unde... |
OMIM:127200 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
| Cenani-Lenz Syndrome |
|
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... |
ORPHA:3258 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Coxa vara, Lower-limb metaphyseal irregularity, Short long bone, Enlarged metaphyses,... |
OMIM:618728 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Patellar dislocation, Micrognathia, Elbow ankylosis, Abnormal vertebral morphology, Failure to th... |
ORPHA:96183 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Wrist flexion contracture, Coxa valga, Micrognathia, Short neck, Delayed skeletal maturation, Tal... |
OMIM:255800 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Verheij Syndrome |
|
Vertebral fusion, Short 5th finger, Short stature, Clinodactyly, Hip dislocation, Short neck, Sco... |
OMIM:615583 |
| Hyperparathyroidism, Transient Neonatal |
|
Recurrent fractures, Undulate ribs, Short long bone, Short ribs, Short femur, Femoral bowing, Wid... |
OMIM:618188 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Knee pain, Avascular necrosis of the capital femoral epiphysis, Ch... |
OMIM:184100 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Hyperlordosis, Finger syndactyly, Vertebral segmentation defect, Synosto... |
ORPHA:1323 |
| Gnathodiaphyseal Dysplasia |
|
Broad jaw, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteope... |
ORPHA:53697 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Knee flexion contracture, Thoracolumbar scoliosis, Hip contracture, Tapered finger, Hyperextensib... |
OMIM:313420 |
| Atypical Rett Syndrome |
|
Gait ataxia, Small hand, Kyphosis, Episodic tachypnea, Inability to walk, Gait disturbance, Loss ... |
ORPHA:3095 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
| Congenital Bowing Of Long Bones-Short Stature-Dolichomacrocephaly-Ocular Hypertelorism Syndrome |
|
Hyperlordosis, Bowing of the long bones |
ORPHA:2292 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
| Lethal Recessive Chondrodysplasia |
|
Short long bone, Flared elbow metaphyses, Micrognathia, Accelerated skeletal maturation, Generali... |
ORPHA:1423 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Narrow chest, Micrognathia, Short neck, Abnormal clavicle morphology, Decreased skull... |
ORPHA:93267 |
| Pyle Disease |
|
Thin bony cortex, Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed erupti... |
OMIM:265900 |
| Thiemann Disease |
|
Short phalanx of finger, Broad phalanx, Avascular necrosis |
OMIM:165700 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... |
OMIM:271700 |
| Ivic Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Aplastic clavicle, Hypoplasia of the radius, Syno... |
ORPHA:2307 |
| Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Coxa valga, Abnormal metaphysis morphology, Short statur... |
ORPHA:166272 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated radial head, Limited elbow e... |
ORPHA:93359 |
| Shashi-Pena Syndrome |
|
Retrognathia, Cervical C2/C3 vertebral fusion, Kyphosis, Short metacarpal, Accelerated skeletal m... |
OMIM:617190 |
| Trichorhinophalangeal Syndrome, Type I |
|
Ivory epiphyses of the distal phalanges of the hand, Delayed eruption of teeth, Micrognathia, Fla... |
OMIM:190350 |
| Atelosteogenesis Type Ii |
|
Short phalanx of finger, Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the ha... |
ORPHA:56304 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Rhizomelia, Short finger, Irregular epiphyses, Joint laxity, Barrel-shaped... |
OMIM:612813 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Proximal/middle symphalangism of 5th finger, Toe syndactyly, Fused cervical vertebrae, Broad hall... |
OMIM:184460 |
| Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Rhizomelia, Short long bone, Small for gestational age, Short stature, Multi... |
OMIM:616229 |
| Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphos... |
OMIM:259440 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Increased intervertebral space, Short long bone, Short ribs, Coarse metaphyseal trabecularization... |
OMIM:618961 |
| Severe Congenital Nemaline Myopathy |
|
Flexion contracture, Abnormal thorax morphology, Adducted thumb, Multiple prenatal fractures, Art... |
ORPHA:171430 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Retrognathia, Vertebral segmentation defect, Abnormal metacarpal morphol... |
ORPHA:2631 |
| Progressive Pseudorheumatoid Dysplasia |
|
Camptodactyly of finger, Genu varum, Coxa vara, Joint contracture of the hand, Enlarged epiphyses... |
OMIM:208230 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... |
OMIM:274000 |
| Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Short stature, Epiphyseal stippling, Limitation of joint mobility, Spina bifida occul... |
ORPHA:177 |
| Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Respiratory distress, Edema, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Genu varum, Delayed ossification of carpal bones, Bowing of the legs, Delayed skeletal maturation... |
OMIM:617974 |
| Multiple Osteochondromas |
|
Coxa valga, Abnormal carpal morphology, Limb undergrowth, Genu valgum, Abnormality of the knee, A... |
ORPHA:321 |
| Isolated Glycerol Kinase Deficiency |
|
Hyperlordosis, Scoliosis, Short stature, Osteoporosis |
ORPHA:408 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Short phalanx of finger, Flexion contracture, Short 5th metacarpal, Short stature, Large tarsal b... |
OMIM:215150 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Abnormality of the cervical spine, Finger syndactyly, Small hand, Short ... |
ORPHA:915 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Hip subluxation, Elbow flexion contracture, Flat capital femoral epiphysis, Hip dislocation, Slen... |
ORPHA:93360 |
| Nemaline Myopathy 7 |
|
Knee flexion contracture, Lumbar hyperlordosis, Gait disturbance, Waddling gait, Kyphoscoliosis, ... |
OMIM:610687 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Multiple joint contractures, Arthrogryposis multiplex congenita |
OMIM:611369 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone morphol... |
ORPHA:1802 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Coxa valga, Hallux v... |
OMIM:271640 |
| Ollier Disease |
|
Multiple enchondromatosis, Micromelia, Osteolysis, Platyspondyly, Abnormal metaphysis morphology,... |
ORPHA:296 |
| Asymmetric Short Stature Syndrome |
|
Lumbar scoliosis, Fused cervical vertebrae, Micrognathia, Asymmetric short stature, Hemihypotroph... |
OMIM:108450 |
| Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Advanced ossification of carpal bones, Thoracic hypoplasia, Short neck... |
OMIM:269250 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Retrognathia, Kyphosis, Micrognathia, Camptodactyly, Short neck, Neonatal death... |
OMIM:618393 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal metacarpal morphology, Hand polydactyly, Abnormal morphol... |
ORPHA:2167 |
| Myasthenic Syndrome, Congenital, 16 |
|
Apnea, Hyperlordosis, Gait disturbance |
OMIM:614198 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Delayed skeletal maturation, Limited elbow extension, Scapular winging, Talipes equin... |
OMIM:272460 |
| Pseudodiastrophic Dysplasia |
|
Rhizomelia, Micrognathia, Hypoplasia of the odontoid process, Camptodactyly, Elbow dislocation, F... |
OMIM:264180 |
| Achondroplasia |
|
Spinal stenosis with reduced interpedicular distance, Severe platyspondyly, Thoracic hypoplasia, ... |
OMIM:100800 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Respiratory insufficiency, Polyhydramnios, Hyperlordosis, Spinal rigidity, Waddling gait, Scolios... |
OMIM:161800 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Hyperlordosis, Reduced vital capacity |
OMIM:607088 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Metatarsus valgus, Short stature, Micrognathia, Clinodactyly of the 5th ... |
ORPHA:1388 |
| Ck Syndrome |
|
Microretrognathia, Joint hypermobility, Kyphoscoliosis, Long toe, Slender build, Long fingers, Lu... |
ORPHA:251383 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
2-3 toe syndactyly, Vertebral fusion, Butterfly vertebrae, Hyperplasia of the maxilla, Thoracic k... |
ORPHA:313892 |
| Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Hypoplasia ... |
OMIM:249700 |
| Grant Syndrome |
|
Joint dislocation, Short stature, Narrow chest, Micrognathia, Abnormal cortical bone morphology, ... |
ORPHA:2097 |
| Cog1-Cdg |
|
Coxa valga, Rhizomelia, Short long bone, Vertebral segmentation defect, Micrognathia, Flat acetab... |
ORPHA:263508 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Patellar dislocation, Short metacarpal, Cuboidal metacarpal, Abnormality of the ankle, Hip disloc... |
ORPHA:968 |
| Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Distal foot symphalangism, Distal symphalangism ... |
OMIM:185700 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Bell-shaped thorax, Joint dislocation, Abnormality of the elbow, Weight loss, Rhizomelia, Short r... |
ORPHA:1842 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Bell-shaped thorax, Vertebral fusion, Short thorax, Short stature, Block vertebrae, Vertebral seg... |
OMIM:613686 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Limited elbow flexion, Short metacarpal, Double-layered patella, Hip dysplasia, Flat capital femo... |
OMIM:226900 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Bulging of... |
OMIM:600081 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Decreased body weight, Short 1st metacarpal, Short stature, Hypoplasia of the radiu... |
OMIM:609053 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Ruvalcaba Syndrome |
|
Cone-shaped epiphysis, Small hand, Short metacarpal, Kyphosis, Abnormality of the elbow, Synostos... |
ORPHA:3121 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Abnormal sternum morp... |
ORPHA:2990 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:616022 |
| Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Growth de... |
OMIM:244600 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
| Wt Limb-Blood Syndrome |
|
Ulnar deviation of thumb, Short phalanx of finger, Absent thumb, Retrognathia, Short thumb, Micro... |
OMIM:194350 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Camptodactyly of finger, Short stature, Broad thumb, Type B brachydactyly, Short distal phalanx o... |
ORPHA:1471 |
| Pfeiffer Syndrome |
|
Symphalangism affecting the phalanges of the hand, Hyperlordosis, Finger syndactyly, Hip dysplasi... |
ORPHA:710 |
| Cartilage-Hair Hypoplasia |
|
Abnormal distal phalanx morphology of finger, Short neck, Delayed skeletal maturation, Metaphysea... |
ORPHA:175 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Camptodactyly of finger, Short phalanx of finger, Shoulder dislocation, Flexion contracture, Dela... |
OMIM:143095 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis, Failure to thrive, Dense metaphyseal bands,... |
OMIM:615198 |
| Desbuquois Syndrome |
|
Camptodactyly of finger, Bell-shaped thorax, Coxa valga, Coxa vara, Small hand, Patellar dislocat... |
ORPHA:1425 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Abnormal mandible morphology, Osteolysis, Abnormal rib morphology, Fibrous dysp... |
ORPHA:249 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short stature, Short ribs, Postaxial foot polydactyly, Postaxial hand polydactyl... |
OMIM:617405 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Rhizomelia, Short stature, Micrognathia, Hip dislocation, Narrow greater sciatic notch, Hypoplast... |
OMIM:602471 |
| Myopathy, Centronuclear, 2 |
|
Hyperlordosis, Flexion contracture, Kyphosis, Oligohydramnios, Waddling gait, Scoliosis, Scapular... |
OMIM:255200 |
| Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, Irregular vertebral endplates, Kyphosis, Intrauterine growth retardation, Brac... |
OMIM:234250 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Short thorax, Platyspondyly, Micromelia, Abnormal epiphysis morphology, Proportionate short statu... |
ORPHA:93283 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Hyperlordosis, Genu valgum, Mandibular prognathia, Coxa vara, Short metacarpal, Rhizomelia, Brach... |
ORPHA:2831 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Spastic gait, Lumbar hyperlordosis |
OMIM:619966 |
| Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Bell-shaped thorax, Hypoplastic iliac wing, Irregular vertebral endplates, Irreg... |
OMIM:187760 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo... |
|
