| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
| Czech Dysplasia |
|
Short metatarsal, Flat capital femoral epiphysis, Osteochondroma, Intervertebral space narrowing,... |
OMIM:609162 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Platyspondyly, Short metatarsal, Enlarg... |
OMIM:271650 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Hypoplastic pelvis, Abnormal epiphysis morphology, Broad palm, Abnormal carpal ... |
ORPHA:93351 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Cervical spinal canal stenosis, Ankle flexion contracture, Reduced bone mineral density, Osteocho... |
OMIM:620232 |
| Metachondromatosis |
|
Abnormal metaphysis morphology, Avascular necrosis, Bone pain, Abnormal epiphysis morphology, Exo... |
ORPHA:2499 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... |
ORPHA:93314 |
| Multiple Osteochondromas |
|
Abnormal femur morphology, Limitation of knee mobility, Deformed forearm bones, Abnormal lower li... |
ORPHA:321 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... |
ORPHA:1856 |
| Brachydactyly Type C |
|
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... |
ORPHA:93384 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Accelerated skeleta... |
ORPHA:93307 |
| Osteochondrosis Of The Metatarsal Bone |
|
Osteochondrosis, Pedal edema, Flattened metatarsal heads, Abnormality of the third metatarsal bon... |
ORPHA:564003 |
| Pseudoachondroplasia |
|
Abnormal form of the vertebral bodies, Short long bone, Increased laxity of ankles, Flat acetabul... |
ORPHA:750 |
| Spondyloperipheral Dysplasia |
|
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... |
OMIM:271700 |
| Desbuquois Dysplasia 1 |
|
Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala... |
OMIM:251450 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Pes cavus, Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Genu recurvatum, Li... |
OMIM:151200 |
| Brachydactyly Type E |
|
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S... |
ORPHA:93387 |
| Acromesomelic Dysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metatarsal, Joint hyp... |
OMIM:602875 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... |
OMIM:601438 |
| Smith-Mccort Dysplasia 2 |
|
Limited elbow extension, Genu valgum, Platyspondyly, Short metatarsal, Hyperlordosis, Flat acetab... |
OMIM:615222 |
| Ruvalcaba Syndrome |
|
Limited elbow extension, Short metatarsal, Scoliosis, Short metacarpal, Kyphosis, Micromelia, Sho... |
OMIM:180870 |
| Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Increased vertebral height, Osteochondroma, Scoliosis, Wide femoral metaphysis, Camptodactyly, Ca... |
OMIM:610474 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... |
OMIM:132400 |
| Dyggve-Melchior-Clausen Disease |
|
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... |
OMIM:223800 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ... |
OMIM:113000 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... |
ORPHA:93409 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... |
ORPHA:93403 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
| Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh... |
OMIM:112450 |
| Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Abnormal ulnar metaphysis morphology, Abnormal fibula morphology, Genu valgum, Pl... |
ORPHA:85198 |
| Jackson-Weiss Syndrome |
|
Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t... |
OMIM:123150 |
| Pseudopseudohypoparathyroidism |
|
Short 4th metacarpal, Short metatarsal, Ectopic ossification, Brachydactyly, Short distal phalanx... |
ORPHA:79445 |
| Otopalatodigital Syndrome Type 1 |
|
Abnormal metacarpal morphology, Proximal placement of thumb, Sandal gap, Short hallux, Increased ... |
ORPHA:90650 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... |
OMIM:228900 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Recurrent otitis media, Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cu... |
ORPHA:370010 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Short long bone, Hyperlordosis,... |
ORPHA:457395 |
| Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
| Acromesomelic Dysplasia 4 |
|
Sandal gap, Short metacarpal, Accelerated skeletal maturation, Mesomelia, Metaphyseal irregularit... |
OMIM:619636 |
| Brachydactyly, Type A1 |
|
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... |
OMIM:112500 |
| Marinesco-Sjogren Syndrome |
|
Cubitus valgus, Short metatarsal, Scoliosis, Rimmed vacuoles, Short metacarpal, Kyphosis, Central... |
OMIM:248800 |
| Acrodysostosis |
|
Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Accelerated s... |
ORPHA:950 |
| Hoxha-Aliu Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... |
OMIM:620662 |
| Adams-Oliver Syndrome 3 |
|
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Short palm, Short distal phalanx... |
OMIM:614814 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metata... |
OMIM:190351 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... |
ORPHA:2064 |
| Multiple Synostoses Syndrome 2 |
|
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Humeroradial synostosis, Proximal s... |
OMIM:610017 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... |
OMIM:609052 |
| Pseudoachondroplasia |
|
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... |
OMIM:177170 |
| Atelosteogenesis, Type I |
|
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic platyspondyly, Fibular aplasia... |
OMIM:108720 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Short long bone, Vertebral segmentation defect, Patent ductus arteriosus, Talipes ... |
OMIM:618845 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Antecubital pte... |
OMIM:618469 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular... |
OMIM:617102 |
| Eiken Syndrome |
|
Fibular hypoplasia, Abnormal bone ossification, Cubitus valgus, Delayed epiphyseal ossification, ... |
ORPHA:79106 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Brac... |
ORPHA:1436 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... |
ORPHA:174 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Micrognathia, Brachydactyly, P... |
ORPHA:1278 |
| Multiple Pterygium Syndrome, X-Linked |
|
Short finger, Polyhydramnios, Multiple pterygia, Joint dislocation, Amyoplasia, Thin ribs, Microg... |
OMIM:312150 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Pes cavus, Distal lower limb muscle weakness, Abnormal foot morphology, Distal lower limb amyotro... |
ORPHA:324442 |
| Pde4D Haploinsufficiency Syndrome |
|
Caudal interpedicular narrowing, Short metatarsal, Joint hypermobility, Upper limb undergrowth, B... |
ORPHA:439822 |
| Polydactyly, Postaxial, Type A7 |
|
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... |
OMIM:617642 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Muscular dystrophy, Calf muscle hypertrophy, Hyperlordosis, Scoliosis, Facial palsy, Kyphosis, EM... |
OMIM:606612 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... |
OMIM:605289 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... |
OMIM:228930 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Satoyoshi Syndrome |
|
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Skeletal muscle h... |
OMIM:600705 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr... |
ORPHA:1826 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Short finger, Polyhydramnios, Multiple pterygia, Joint dislocation, Amyoplasia, Thin ribs, Microg... |
OMIM:253290 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metatarsal, Short metacarpal, Short phalanx of finger, Spinal canal stenosis, Brachydactyly... |
OMIM:614613 |
| Jackson-Weiss Syndrome |
|
Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Broad metatarsal, Split foot, S... |
ORPHA:1540 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Limited elbow extension, Osteopenia, Carpal bone hypoplasia, Small epiphyses, Craniosynostosis, S... |
OMIM:616723 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Vertebral fusion |
OMIM:251250 |
| Fibrodysplasia Ossificans Progressiva |
|
Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda... |
ORPHA:337 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal bone ossification, Biconvex vertebral bodies, Reduced bone mineral density, Hypoplastic ... |
ORPHA:93315 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl... |
OMIM:605282 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... |
OMIM:277300 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Short long bone, Joint hypermobility, Genu varum, Long fibula, Wide femoral metaphysis, Short pal... |
ORPHA:2502 |
| Saul-Wilson Syndrome |
|
Platyspondyly, Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of t... |
OMIM:618150 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... |
OMIM:156500 |
| Thiemann Disease |
|
Short phalanx of finger, Broad phalanx, Avascular necrosis |
OMIM:165700 |
| Mesomelia-Synostoses Syndrome |
|
Narrow foot, Carpometacarpal synostosis, Abnormal vertebral morphology, Short metatarsal, Polyhyd... |
OMIM:600383 |
| Cohen Syndrome |
|
Genu valgum, Cubitus valgus, Short metatarsal, Facial hypotonia, Single transverse palmar crease,... |
OMIM:216550 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Clinodactyly of the 5th finger, Short metatarsal, Scoliosis, Hyperlordosis, Short metacarpal, Cam... |
ORPHA:77258 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short 4th metacarpal, Type E brachydactyly, Short metatarsal |
OMIM:113301 |
| Pseudopseudohypoparathyroidism |
|
Short metatarsal, Short metacarpal, Osteoporosis, Brachydactyly, Short neck |
OMIM:612463 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... |
ORPHA:2345 |
| Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
| Osebold-Remondini Syndrome |
|
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... |
OMIM:112910 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, 2-4 toe syndactyly, Syndact... |
OMIM:150230 |
| Fibrodysplasia Ossificans Progressiva |
|
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Ectopic o... |
OMIM:135100 |
| Roifman-Chitayat Syndrome |
|
Osteopenia, Short metatarsal, Arthritis, Short metacarpal, Pneumonia, Short neck, Cone-shaped epi... |
OMIM:613328 |
| Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Ivory epiphyses of the dis... |
OMIM:190350 |
| Wahab Syndrome |
|
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... |
OMIM:615170 |
| Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Limited elbow extension and supination, Brachydactyly, Short neck... |
OMIM:244600 |
| Leri-Weill Dyschondrosteosis |
|
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... |
OMIM:127300 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... |
OMIM:609945 |
| Oslam Syndrome |
|
Radial deviation of finger, Radioulnar synostosis, Osteosarcoma, Neoplasm, Clinodactyly |
OMIM:165660 |
| Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver... |
OMIM:176240 |
| Oncogenic Osteomalacia |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal foot morphology, Abnormal vertebr... |
ORPHA:352540 |
| Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:613382 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middle phalanx of finger, Tho... |
OMIM:309620 |
| Kniest Dysplasia |
|
Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Dumbbell-shaped... |
ORPHA:485 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs, Posterior rib fu... |
OMIM:122600 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Flattened metacarpal heads, Flattened metatarsal heads, Synovial lining hyperplasia, Arthritis, A... |
OMIM:208250 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Diaphyseal cortical sclerosis, Fibrosarcoma, Osteopenia, Pathologic fracture, Metaphyseal striati... |
OMIM:112250 |
| Dysplasia Epiphysealis Hemimelica |
|
Abnormal femur morphology, Irregular epiphyses, Genu valgum, Tarsal synostosis, Bone pain, Abnorm... |
ORPHA:1822 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Missing ribs, Narrow pelvis bone, Short neck, Abno... |
ORPHA:66637 |
| Exostoses, Multiple, Type Ii |
|
Genu valgum, Protuberances at ends of long bones, Rib exostoses, Scapular exostoses, Short metaca... |
OMIM:133701 |
| Exostoses, Multiple, Type I |
|
Genu valgum, Protuberances at ends of long bones, Rib exostoses, Scapular exostoses, Short metaca... |
OMIM:133700 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum... |
ORPHA:1570 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Femoral bowing, T... |
ORPHA:93356 |
| Arthrogryposis, Distal, Type 2B2 |
|
Overlapping fingers, Sandal gap, Tapered finger, Camptodactyly, Metatarsus adductus, Short toe, B... |
OMIM:618435 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Weaver Syndrome |
|
Radial deviation of finger, Hypoplastic iliac wing, Short ribs, Prominent fingertip pads, Limited... |
OMIM:277590 |
| Pallister-Hall Syndrome |
|
Mesoaxial polydactyly, Hypothalamic hamartoma, Oligodactyly, Broad thumb, Polydactyly affecting t... |
ORPHA:672 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu... |
OMIM:602111 |
| Hypochondroplasia |
|
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,... |
ORPHA:429 |
| Hand-Foot-Genital Syndrome |
|
Sacral dimple, Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsa... |
ORPHA:2438 |
| Acromicric Dysplasia |
|
Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Ovoid vertebr... |
OMIM:102370 |
| Aarskog-Scott Syndrome |
|
Clinodactyly of the 5th finger, Talipes, Joint hypermobility, Genu recurvatum, Finger syndactyly,... |
ORPHA:915 |
| Otospondylomegaepiphyseal Dysplasia |
|
Sandal gap, Tibial bowing, Short metacarpal, Abnormally ossified vertebrae, Dumbbell-shaped femur... |
ORPHA:1427 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... |
OMIM:609616 |
| Hand-Foot-Genital Syndrome |
|
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... |
OMIM:140000 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Congenital muscular tortic... |
ORPHA:2916 |
| Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... |
ORPHA:93388 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cervical ribs, Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia... |
ORPHA:3320 |
| Kbg Syndrome |
|
Finger clinodactyly, Single transverse palmar crease, Scoliosis, Thoracic kyphosis, Persistent op... |
ORPHA:2332 |
| Larsen Syndrome |
|
Multiple carpal ossification centers, Spondylolysis, Knee dislocation, Short metacarpal, Dislocat... |
OMIM:150250 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Clinodactyly of the 5th toe, Recurrent otitis media, Short fifth metatarsal, 2-3 toe syndactyly, ... |
OMIM:261990 |
| Ring Chromosome 21 Syndrome |
|
Scoliosis, Narrow palm, Syndactyly, Thoracic hemivertebrae, Fused thoracic vertebrae, Clinodactyl... |
ORPHA:1445 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Cranio... |
OMIM:178110 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Muscular dystrophy, Calf muscle hypertrophy, Hyperlordosis, Scoliosis, Macroglossia, Kyphosis, Ac... |
OMIM:607155 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short mandibular rami, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short metatar... |
OMIM:170390 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Widening of cervical spinal canal, Fusion of midcervical facet joints, Nemaline bodies, Limb musc... |
OMIM:606842 |
| Osteoglophonic Dysplasia |
|
Short metacarpal, Broad metatarsal, Broad thumb, Broad palm, Craniosynostosis, Rhizomelia, Short ... |
OMIM:166250 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal fibula morphology, Tarsal synostosis, Talipes, Clinodactyly of the 5th finger, Cubitus v... |
ORPHA:1836 |
| Zechi-Ceide Syndrome |
|
Short distal phalanx of finger, Long foot, Short metatarsal, Sandal gap |
OMIM:612916 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Multiple joint dislocation, Kyphosis, Slender metacarpals, Metaphyseal irregulari... |
ORPHA:93360 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Butterfly vertebrae, Scoliosis, 2-3 toe syndactyly, Thoracic kyphoscoliosis, Lumbar hyperlordosis... |
ORPHA:313892 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Short first metatarsal, Single transverse palmar crease, Short distal phalanx of toe, Brachydacty... |
OMIM:601957 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... |
OMIM:305620 |
| Brachydactyly, Type E1 |
|
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly |
OMIM:113300 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Congenital muscular torticollis, Scoliosis, Abnormal rib morphol... |
OMIM:118100 |
| Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... |
ORPHA:93396 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Epi... |
OMIM:101800 |
| Odontochondrodysplasia 1 |
|
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati... |
OMIM:184260 |
| Distal Deletion 10Q |
|
Sandal gap, Prominent fingertip pads, Facial diplegia, Craniosynostosis, Clinodactyly, Hip disloc... |
ORPHA:96148 |
| Peripheral Dysostosis |
|
Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Hyperlordosis, Short metacarpal, Delayed skeletal maturation, Tarsal synostosis, Bowed humerus, S... |
OMIM:272460 |
| Brachydactyly Type B |
|
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... |
ORPHA:93383 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
| Tolchin-Le Caignec Syndrome |
|
Clinodactyly of the 5th finger, Cardiac rhabdomyoma, Osteochondroma, Diastasis recti, Arachnodact... |
OMIM:618971 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Intervertebral space narrowing, Irr... |
OMIM:614078 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
| Basal Cell Nevus Syndrome 1 |
|
Kyphoscoliosis, Cardiac rhabdomyoma, Hamartomatous stomach polyps, Ovarian fibroma, Short ribs, R... |
OMIM:109400 |
| Pseudohypoparathyroidism, Type Ia |
|
Short finger, Short metatarsal, Short metacarpal, Osteoporosis, Subcutaneous ossification, Short ... |
OMIM:103580 |
| Acromesomelic Dysplasia, Grebe Type |
|
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... |
ORPHA:2098 |
| Cri-Du-Chat Syndrome |
|
Short metatarsal, Single transverse palmar crease, Scoliosis, High axial triradius, Diastasis rec... |
OMIM:123450 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Patellar hypoplasia, Eczematoid dermatitis, Short fourth metatarsal, Brachydactyly, Short neck |
ORPHA:464288 |
| Acheiropody |
|
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... |
OMIM:200500 |
| Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Short first metatarsal, Prominent fingertip pads, Broad thumb, Micrognathia, Broad... |
OMIM:613684 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Beaking of vertebral bodies, Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypo... |
OMIM:215150 |
| Smith-Mccort Dysplasia 1 |
|
Beaking of vertebral bodies, Genu valgum, Irregular epiphyses, Hypoplastic acetabulae, Scoliosis,... |
OMIM:607326 |
| Verheij Syndrome |
|
Scoliosis, Hemivertebrae, Short neck, Vertebral fusion, Joint hypermobility, Short 5th finger, Cl... |
OMIM:615583 |
| Lethal Recessive Chondrodysplasia |
|
Polyhydramnios, Short long bone, Flared elbow metaphyses, Micromelia, Accelerated skeletal matura... |
ORPHA:1423 |
| Ulnar Hemimelia |
|
Limited elbow movement, Dislocated radial head, Elbow pain, Congenital finger flexion contracture... |
ORPHA:93320 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Rocker bottom foot, Congenital diaphragmatic hernia, Dislocated radial head, Kyphosis, Arachnodac... |
OMIM:265000 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Shortening of... |
OMIM:619135 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... |
OMIM:608728 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Broad thumb, Broad hallux,... |
OMIM:184460 |
| Brachydactyly Type B2 |
|
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... |
ORPHA:140908 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, Nemaline bodies, Thoracolumbar scoliosis, Micrognathia, Flexion ... |
OMIM:616549 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... |
OMIM:201250 |
| Sillence Syndrome |
|
Large iliac wing, Flat acetabular roof, Broad metatarsal, Broad thumb, Abnormal morphology of the... |
ORPHA:3168 |
| Shox-Related Short Stature |
|
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Skeletal muscle h... |
ORPHA:314795 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... |
OMIM:619598 |
| Chromosome 2Q37 Deletion Syndrome |
|
Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Eczematoid dermatitis, Short pha... |
OMIM:600430 |
| Gorlin Syndrome |
|
Basal cell carcinoma, Abnormal vertebral morphology, Bifid ribs, Palmar pits, Odontogenic keratoc... |
ORPHA:377 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metacarpal heads, Hip osteoarthritis, Flattened metatarsal heads, Osteoarthritis, Platy... |
OMIM:271600 |
| Li-Fraumeni Syndrome |
|
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... |
ORPHA:524 |
| Atelosteogenesis Type Ii |
|
Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap... |
ORPHA:56304 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Kyphoscoliosis, Osteopenia, Platyspondyly, Flat capital femoral epiphysis, Flared metaphysis, Dis... |
OMIM:612350 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Hip subluxation, Bilateral camptodactyly, Scoliosis, Prominent fingertip pads, Kyphosis, Short fo... |
OMIM:619557 |
| Arthrogryposis, Distal, Type 3 |
|
Kyphoscoliosis, Overlapping toe, Scoliosis, Ulnar deviation of the hand or of fingers of the hand... |
OMIM:114300 |
| Frontometaphyseal Dysplasia 2 |
|
Fused cervical vertebrae, Short metatarsal, Flared metaphysis, Dislocated radial head, Scoliosis,... |
OMIM:617137 |
| Weill-Marchesani Syndrome 2 |
|
Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Patent d... |
OMIM:608328 |
| Van Maldergem Syndrome 1 |
|
Osteopenia, Short 4th metacarpal, Abnormal foot morphology, Sacral dimple, Tracheomalacia, Short ... |
OMIM:601390 |
| Oslam Syndrome |
|
Osteosarcoma, Clinodactyly of the 5th finger, Radioulnar synostosis |
ORPHA:2760 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var... |
OMIM:250420 |
| Ollier Disease |
|
Abnormal metaphysis morphology, Platyspondyly, Bone pain, Micromelia, Hemangioma, Chondrosarcoma,... |
ORPHA:296 |
| Otopalatodigital Syndrome, Type Ii |
|
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Short ribs, Short metacarpal, ... |
OMIM:304120 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Hypoplastic sacrum, Rhizomelia, Short metatarsal, Short metacarpal, Short foot, Hypop... |
OMIM:614813 |
| Zechi-Ceide Syndrome |
|
Short distal phalanx of finger, Long foot, Short metatarsal, Sandal gap |
ORPHA:217017 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... |
OMIM:609813 |
| Femoral-Facial Syndrome |
|
Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Syndactyly, Absent verteb... |
OMIM:134780 |
| Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Limited pronati... |
OMIM:620019 |
| Pitt-Hopkins Syndrome |
|
Narrow foot, Pes valgus, Sacral dimple, Single transverse palmar crease, Short fifth metatarsal, ... |
OMIM:610954 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... |
ORPHA:3344 |
| Metachondromatosis |
|
Bowing of the long bones, Multiple digital exostoses, Multiple exostoses, Abnormal joint morpholo... |
OMIM:156250 |
| Pseudohypoparathyroidism, Type Ic |
|
Short metatarsal, Short metacarpal, Osteoporosis, Brachydactyly, Short neck |
OMIM:612462 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Seborrheic dermatitis, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplas... |
OMIM:274000 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... |
ORPHA:90041 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... |
OMIM:610713 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplasia/hypoplasia involving bones of the upper limbs, Neoplasm of the skin, Short metacarpal, De... |
ORPHA:221016 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Generalized joint hypermobility, Hammertoe, Cervical C2/C3 vertebral fusion, Joint hy... |
OMIM:618000 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... |
OMIM:268310 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, E... |
OMIM:266920 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... |
OMIM:300106 |
| Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia |
ORPHA:29073 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia |
ORPHA:158048 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordosis, Kyphosis, Abnormal rib mor... |
ORPHA:2522 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Abnormal odontoid process morphology, Spina bifida occulta, Scoliosis, Hemivertebrae, Vertebral s... |
OMIM:613686 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Short 4th metacarpal, Rhizomelia, Wormian bones, Femoral bowing, Thoracic kyphosis, Broad thumb, ... |
OMIM:619638 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
| Developmental And Epileptic Encephalopathy 95 |
|
Short 4th metacarpal, Clinodactyly of the 5th finger, Single transverse palmar crease, Scoliosis,... |
OMIM:618143 |
| Léri-Weill Dyschondrosteosis |
|
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... |
ORPHA:240 |
| Caudal Regression Syndrome |
|
Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Scoliosis, Abnormal pelvic gird... |
ORPHA:3027 |
| Paget Disease Of Bone 3 |
|
Bone pain, Fractures of the long bones, Patchy osteosclerosis, Osteosarcoma, Osteolysis |
OMIM:167250 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short long bone, Short metacarpa... |
OMIM:611717 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Delayed cranial suture closure, Microm... |
ORPHA:2249 |
| Fibular Hemimelia |
|
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... |
ORPHA:93323 |
| Nievergelt Syndrome |
|
Pes cavus, Genu valgum, Tarsal synostosis, Metatarsus adductus, Radial head subluxation, Mesomeli... |
OMIM:163400 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Abnormal thumb morphology, Talipes, Radial club hand, Sandal gap, Short h... |
ORPHA:959 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Short long bone, Femoral bowing, Hyperlordosis, Kyphosis, Metaphyseal irregularity, Joint hypermo... |
OMIM:618019 |
| Van Maldergem Syndrome 2 |
|
Osteopenia, Short 4th metacarpal, Hip subluxation, Sacral dimple, Tracheomalacia, Short clavicles... |
OMIM:615546 |
| Proximal Symphalangism |
|
Tarsal synostosis, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormality of... |
ORPHA:3250 |
| Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Broad metacarpals, Short metacarpal, Short phalanx of finger, Broad phalanx |
OMIM:618724 |
| Anauxetic Dysplasia 1 |
|
Delayed ossification of carpal bones, Joint hypermobility, Cervical subluxation, Short finger, Rh... |
OMIM:607095 |
| Otopalatodigital Syndrome Type 2 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Short h... |
ORPHA:90652 |
| Fibrous Dysplasia Of Bone |
|
Abnormal femur morphology, Pathologic fracture, Osteolysis, Rickets, Thyroid carcinoma, Abnormal ... |
ORPHA:249 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia |
OMIM:241600 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal metaphysis morphology, Acne, Abnormal vertebral morphology, Osteolysis, Bone pain, Arthr... |
ORPHA:324964 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Scoliosis, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion |
OMIM:214300 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F... |
ORPHA:3329 |
| Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal |
OMIM:112410 |
| Diamond-Blackfan Anemia 21 |
|
Genu valgum, Cubitus valgus, Sandal gap, Clinodactyly of the thumb, Hallux valgus, Micrognathia, ... |
OMIM:620072 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... |
OMIM:607778 |
| Nicolaides-Baraitser Syndrome |
|
Broad distal phalanx of finger, Short metatarsal, Sandal gap, Broad 2nd toe, Hallux valgus, Singl... |
OMIM:601358 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Thickened Achilles tendon, Anterior uveitis, Limited mobility of proximal interphalangeal joint, ... |
ORPHA:85438 |
| Achondroplasia |
|
Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Lumbar kyphosis in infanc... |
OMIM:100800 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... |
OMIM:609441 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda... |
OMIM:615994 |
| Richieri Costa-Da Silva Syndrome |
|
Kyphoscoliosis, Beaking of vertebral bodies, Distal lower limb muscle weakness, Genu valgum, Gene... |
ORPHA:3101 |
| Pseudohypoparathyroidism Type 1C |
|
Short 4th metacarpal, Calcinosis, Short metatarsal, Increased bone mineral density, Short fifth m... |
ORPHA:79444 |
| Mesomelia-Synostoses Syndrome |
|
Abnormal femur morphology, Joint stiffness, Mesomelia, Abnormality of the hand, Abnormal tibia mo... |
ORPHA:2496 |
| Myhre Syndrome |
|
Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Joint stiffness, Generalized... |
OMIM:139210 |
| Platyspondylic Dysplasia, Torrance Type |
|
Abnormal carpal morphology, Hydrops fetalis, Platyspondyly, Polyhydramnios, Metaphyseal cupping, ... |
ORPHA:85166 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... |
OMIM:276820 |
| Desbuquois Dysplasia 2 |
|
Short long bone, Flat acetabular roof, Short metacarpal, Knee dislocation, Broad thumb, Joint hyp... |
OMIM:615777 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
| Rothmund-Thomson Syndrome Type 1 |
|
Neoplasm of the skin, Short metacarpal, Delayed skeletal maturation, Plantar hyperkeratosis, Genu... |
ORPHA:221008 |
| Otopalatodigital Syndrome, Type I |
|
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... |
OMIM:311300 |
| Koolen-De Vries Syndrome |
|
Sacral dimple, Spondylolisthesis, Patent ductus arteriosus, Scoliosis, Prominent fingertip pads, ... |
OMIM:610443 |
| Achondrogenesis Type 2 |
|
Abnormal bone ossification, Delayed pubic bone ossification, Short long bone, Short ribs, Hypopla... |
ORPHA:93296 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger |
OMIM:313350 |
| Alkaptonuria |
|
Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ... |
OMIM:203500 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Recurrent sinusitis, Joint hypermobility, Craniosynostosis, Overlapping toe, Sacral dimple, Scoli... |
OMIM:213980 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Scoliosis, Hemivertebrae, Short ribs, Thin ribs, Missing ribs, Block vertebrae, Rib fusion, Short... |
OMIM:271520 |
| Bruck Syndrome 2 |
|
Osteopenia, Pterygium, Wormian bones, Femoral bowing, Elbow flexion contracture, Flexion contract... |
OMIM:609220 |
| Gorham-Stout Disease |
|
Osteopenia, Abnormal bone ossification, Hemangiomatosis, Abnormal femur morphology, Torticollis, ... |
ORPHA:73 |
| Kbg Syndrome |
|
Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Thor... |
OMIM:148050 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... |
ORPHA:85170 |
| Pitt-Hopkins Syndrome |
|
Narrow foot, Pes valgus, Short metatarsal, Single transverse palmar crease, Scoliosis, Esophagiti... |
ORPHA:2896 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia |
OMIM:256300 |
| Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Scoliosis, Thoracic kyphosis, Micrognathia, Hip dysplasia |
ORPHA:530983 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly |
ORPHA:1276 |
| Trisomy 8P |
|
Clinodactyly of the 5th toe, Sacral dimple, Clinodactyly of the 5th finger, Short 1st metacarpal,... |
ORPHA:264450 |
| Santos Syndrome |
|
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... |
OMIM:613005 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital diaphragmatic hernia, Broad thumb, Accelerated skeletal maturation, Neoplasm, Scoliosi... |
ORPHA:373 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly, Coxa valga |
OMIM:132450 |
| Greenberg Dysplasia |
|
Short long bone, Short ribs, Short metacarpal, Decreased skull ossification, Multiple prenatal fr... |
OMIM:215140 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Fused cervical vertebrae, Stomatitis, Skin rash, Pustule, Broad ribs, Flaring of rib ... |
OMIM:612852 |
| Duane-Radial Ray Syndrome |
|
Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absent radius, Hypopl... |
OMIM:607323 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Bilateral single transverse palmar creases, Kyphoscoliosis, Multiple carpal ossification centers,... |
OMIM:143095 |
| Multiple Synostoses Syndrome 1 |
|
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... |
OMIM:186500 |
| Pseudohypoparathyroidism Type 1A |
|
Short 4th metacarpal, Calcinosis, Reduced bone mineral density, Short metatarsal, Increased bone ... |
ORPHA:79443 |
| Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:267700 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... |
OMIM:600785 |
| Li-Fraumeni Syndrome |
|
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... |
OMIM:151623 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of all phal... |
OMIM:601356 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Talipes equinovarus, Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodactyly |
OMIM:617333 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Ankle swelling, Abnormality of the hand, Abnormal shoulder morphology, Abnormality of the wrist, ... |
ORPHA:85408 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia |
ORPHA:86816 |
| Refsum Disease, Classic |
|
Pes cavus, Limb muscle weakness, Short fourth metatarsal |
OMIM:266500 |
| Contractural Arachnodactyly, Congenital |
|
Kyphoscoliosis, Limited knee extension, Congenital finger flexion contractures, Wrist flexion con... |
OMIM:121050 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho... |
OMIM:250220 |
| Opsismodysplasia |
|
Short long bone, Flat acetabular roof, Short metacarpal, Hypoplastic ischia, Hypoplastic vertebra... |
OMIM:258480 |
| Baller-Gerold Syndrome |
|
Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Apla... |
ORPHA:1225 |
| Moebius Syndrome |
|
Congenital fibrosis of extraocular muscles, Radial deviation of finger, Facial diplegia, Split ha... |
OMIM:157900 |
| Lateral Meningocele Syndrome |
|
Scoliosis, Wormian bones, Kyphosis, Biconcave vertebral bodies, Micrognathia, Decreased muscle ma... |
OMIM:130720 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Sternocleidomastoid amyotrophy, Hypertrophied muscle fibers, Joint hypermobility... |
ORPHA:98905 |
| Shashi-Pena Syndrome |
|
Deep palmar crease, Cervical C2/C3 vertebral fusion, Limb hypertonia, Scoliosis, Short metacarpal... |
OMIM:617190 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Midclavicular aplasia, Short ribs, Short metacarpal, Split foot,... |
OMIM:305600 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu... |
OMIM:259600 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped metaphyses of hand bones, ... |
OMIM:307800 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Narrow greater sciatic notch, Rhizomelia, Platyspondyly, Flared metaphysis, Scoliosis, Short long... |
ORPHA:85167 |
| Koolen-De Vries Syndrome |
|
Scoliosis, Vertebral segmentation defect, Kyphosis, Arachnodactyly, Joint hypermobility, Hip disl... |
ORPHA:96169 |
| Osteogenesis Imperfecta, Type Xviii |
|
Vertebral compression fracture, Wormian bones, Femoral bowing, Thin ribs, Bowing of the long bone... |
OMIM:617952 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Absent scaphoid, Dis... |
OMIM:606895 |
| Thanatophoric Dysplasia Type 1 |
|
Abnormal metaphysis morphology, Polyhydramnios, Patent ductus arteriosus, Short greater sciatic n... |
ORPHA:1860 |
| Wildervanck Syndrome |
|
Facial palsy, Short neck, Fused cervical vertebrae |
ORPHA:3456 |
| Mosaic Trisomy 20 |
|
Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Limited pronation/s... |
ORPHA:1724 |
| Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... |
OMIM:601559 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Short foot, Camptodactyly, Metatarsus adductus, Syndactyly, Broad... |
OMIM:227330 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Scoliosis, Femoral bowing, Recurrent fractures, Increased susceptibility to fractures |
OMIM:615066 |
| Tibial Hemimelia |
|
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... |
ORPHA:93322 |
| Refractory Celiac Disease |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia |
ORPHA:398063 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Butterfly vertebrae, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic... |
OMIM:620076 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Broad finger, Perianal abscess, Short phalanx of finger, Pericardial effusion, Brachydactyly, Cli... |
OMIM:614684 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short ribs, Short long bone, Hypoplastic ischia, Dumbbell-shaped lo... |
OMIM:228520 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... |
OMIM:620663 |
| Kyphomelic Dysplasia |
|
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Pterygium, Tibial bowing... |
OMIM:211350 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Short 5th finger, Overlapping toe, Hip dislocation, Abnormality of the hand, Short p... |
ORPHA:508498 |
| Yunis-Varon Syndrome |
|
Bilateral single transverse palmar creases, Absent sternal ossification, Flat acetabular roof, De... |
OMIM:216340 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short 4th metacarpal, Joint dislocation, Tapered finger, Camptodactyly of finger, Aplasia/Hypopla... |
ORPHA:3201 |
| Mucopolysaccharidosis Type 7 |
|
Diaphyseal undertubulation, Anterior beaking of lumbar vertebrae, Hydrops fetalis, Abnormal hip b... |
ORPHA:584 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... |
ORPHA:247585 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Short metacarpal, Fl... |
OMIM:271665 |
| Aicardi Syndrome |
|
Butterfly vertebrae, Proximal placement of thumb, Lipoma, Carcinoma, Metastatic angiosarcoma, Sco... |
OMIM:304050 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Short 4th metacarpal, Recurrent otitis media, Cubitus valgus, Short metatarsal, Scoliosis, Cervix... |
ORPHA:1772 |
| Peters-Plus Syndrome |
|
Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Syndac... |
OMIM:261540 |
| Sifrim-Hitz-Weiss Syndrome |
|
Fused cervical vertebrae, Short clavicles, Flat acetabular roof, Short femoral neck, Patent ductu... |
OMIM:617159 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Polyhydramnios, Flared metaphysis, Mesomelic/rhizomelic limb shorten... |
ORPHA:2347 |
| Achondrogenesis, Type Ii |
|
Short tubular bones of the hand, Abnormal foot morphology, Hydrops fetalis, Polyhydramnios, Hypop... |
OMIM:200610 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Kyph... |
ORPHA:508533 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Vertebral compression fracture, Slender long bone, Femoral retroversion, Scoliosis, T... |
OMIM:610915 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Narrow greater sciatic notch, Femoral bowing, Short long bone, Short metacarpal, Tibial bowing, C... |
OMIM:608940 |
| Holt-Oram Syndrome |
|
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus... |
OMIM:142900 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Joint hypermobility, Oligohydramnios, Cone-shaped epiphysis, Short finger, Short fifth metatarsal... |
OMIM:619841 |
| Fanconi Anemia, Complementation Group I |
|
Hypoplasia of the radius, Fused cervical vertebrae, Short neck, Absent thumb, Short thumb, Short ... |
OMIM:609053 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... |
OMIM:135750 |
| Diamond-Blackfan Anemia 1 |
|
Hypoplasia of the radius, Basal cell carcinoma, Hypoplastic coccygeal vertebrae, 11 pairs of ribs... |
OMIM:105650 |
| Geroderma Osteodysplasticum |
|
Kyphoscoliosis, Beaking of vertebral bodies, Osteopenia, Vertebral compression fracture, Periodon... |
OMIM:231070 |
| Wiedemann-Steiner Syndrome |
|
Recurrent otitis media, Clinodactyly of the 5th finger, Sacral dimple, Joint hypermobility, Paten... |
OMIM:605130 |
| Pachydermoperiostosis |
|
Palmoplantar keratoderma, Osteolysis, Avascular necrosis, Bone pain, Seborrheic dermatitis, Neopl... |
ORPHA:2796 |
| Duane Retraction Syndrome |
|
Hypoplasia of the radius, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thu... |
ORPHA:233 |
| Aicardi Syndrome |
|
Butterfly vertebrae, Bifid ribs, Intestinal polyposis, Scoliosis, Missing ribs, Rib fusion, Super... |
ORPHA:50 |
| Apert Syndrome |
|
Chronic otitis media, Limited elbow movement, Broad thumb, Syndactyly, Craniosynostosis, Postaxia... |
OMIM:101200 |
| Sapho Syndrome |
|
Acne, Osteolysis, Abnormality of the vertebral column, Bone pain, Arthritis, Skin rash, Neoplasm ... |
ORPHA:793 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sacral dimple, Cubitus valgus, Short metatarsal, Polyhydramnios, Short metacarpal, Eczematoid der... |
OMIM:617157 |
| Martsolf Syndrome 1 |
|
Talipes valgus, Slender ulna, Talipes equinovarus, Tracheomalacia, Short metacarpal, Osteopathia ... |
OMIM:212720 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... |
OMIM:268305 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Kyphosis, Delayed skeletal maturation, Hip dislocation, Sa... |
OMIM:194190 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... |
OMIM:271640 |
| Paget Disease Of Bone 2, Early-Onset |
|
Vertebral compression fracture, Sandwich appearance of vertebral bodies, Bone pain, Osteosclerosi... |
OMIM:602080 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... |
OMIM:603553 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... |
OMIM:166740 |
| Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Hydrops fetalis, Torticollis, Short long bone, Femoral bowing, Short neck, Micrognath... |
OMIM:617022 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Scoliosis, Femoral bowing, Osteoporosis, Platyspondyly, Recurrent fractures |
OMIM:126550 |
| Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Patent ductus arteriosus, Hemivertebrae, Hypothalamic hamartoma, Vertebral h... |
OMIM:206900 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Kyphoscoliosis, Basal cell carcinoma, Squamous cell carcinoma, Osteoporosis, Congenital hip dislo... |
OMIM:268400 |
| Codas Syndrome |
|
Generalized joint hypermobility, Genu valgum, Polyhydramnios, Proximal placement of thumb, Delaye... |
OMIM:600373 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
| Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia |
ORPHA:90362 |
| Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
| Campomelic Dysplasia |
|
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Trac... |
OMIM:114290 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Scoliosis, Short ribs, Femoral ... |
OMIM:613091 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... |
ORPHA:26793 |
| Microphthalmia With Limb Anomalies |
|
Bilateral single transverse palmar creases, Sandal gap, Abnormal form of the vertebral bodies, Ab... |
ORPHA:1106 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
| Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
| Townes-Brocks Syndrome 1 |
|
Clinodactyly of the 5th toe, Talipes, Short metatarsal, Triphalangeal thumb, Pseudoepiphyses of s... |
OMIM:107480 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... |
OMIM:113310 |
| Apert Syndrome |
|
Ovarian neoplasm, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Vertebral segmentation defe... |
ORPHA:87 |
| Robinow Syndrome |
|
Kyphoscoliosis, Mesomelic arm shortening, Scoliosis, Hemivertebrae, Missing ribs, Rib fusion, Mic... |
ORPHA:97360 |
| Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Tarsal synostosis, Recurrent otitis media, Fused cervical verteb... |
OMIM:157800 |
| Atypical Werner Syndrome |
|
Rocker bottom foot, Reduced bone mineral density, Neoplasm of the skin, Calf muscle hypertrophy, ... |
ORPHA:79474 |
| Sponastrime Dysplasia |
|
Kyphoscoliosis, Short long bone, Biconcave vertebral bodies, Mesomelia, Metaphyseal irregularity,... |
ORPHA:93357 |
| Osteogenesis Imperfecta, Type Iv |
|
Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Scoliosis... |
OMIM:166220 |
| Premature Aging Syndrome, Okamoto Type |
|
Osteosarcoma, Osteoporosis, Neoplasm |
OMIM:601811 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, P... |
OMIM:619269 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar scoliosis, Scapular winging, Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis |
OMIM:617796 |
| Blomstrand Lethal Chondrodysplasia |
|
Hydrops fetalis, Rhizomelia, Platyspondyly, Polyhydramnios, Flared metaphysis, Metaphyseal cuppin... |
ORPHA:50945 |
| Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Fused cervical vertebrae, Cervical C2/C3 verte... |
ORPHA:268882 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Rocker bottom foot, Proximal placement of hallux, Pes cavus, Sacral dimple, Proximal placement of... |
OMIM:613458 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Wormian bones, Femoral bowing, Biconcave flattened vertebrae, Hip dysplasia, Joint hy... |
OMIM:166200 |
| Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
| Frank-Ter Haar Syndrome |
|
Kyphoscoliosis, Osteopenia, Acne, Flared metaphysis, Anterior concavity of thoracic vertebrae, Sh... |
OMIM:249420 |
| Diamond-Blackfan Anemia |
|
Abnormality of the thenar eminence, Triphalangeal thumb, Acute myeloid leukemia, Abnormality of t... |
ORPHA:124 |
| Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Tracheomalacia, Aspiration pneumonia, Brachydactyly, Patent duct... |
OMIM:616368 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
| Werner Syndrome |
|
Reduced bone mineral density, Osteoporosis, Low back pain, Meningioma, Osteosarcoma |
OMIM:277700 |
| Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... |
OMIM:208500 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... |
ORPHA:3109 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Micromelia, Short phalanx of finger, Trapezoidal vertebral body, Brachydactyly |
OMIM:600092 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Abnormal bone ossification, Metaphyseal enchondromatosis, Metaphyseal irregularity, Multiple ench... |
ORPHA:99646 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Butterfly vertebrae, Fused cervical vertebrae, Spina bifida occulta |
OMIM:619227 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Recurrent mandibular subluxations, Short phalanx of finger, Micrognathia, Short toe, ... |
OMIM:225410 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Fused cervical vertebrae, Seborrheic dermatitis, Single transverse palmar crease, Thin ribs, Supe... |
ORPHA:83617 |
| Papilloma Of Choroid Plexus |
|
Osteosarcoma, Choroid plexus papilloma |
OMIM:260500 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Micromeli... |
ORPHA:1422 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Fibular hypoplasia, Hip subluxation, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusi... |
ORPHA:444077 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short clavicles, Delayed cranial suture closure, Osteolytic defects of the distal phalanges of th... |
OMIM:608612 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Short long bone, Bilateral talipes equinovarus, Congenital hip dislocation, Block... |
OMIM:306955 |
| Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion |
ORPHA:1780 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Hyponatremia, Increased circulating ferritin concentration, Hypoproteinemia |
ORPHA:167 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Scoliosis, Camptodactyly, Kyphosis, Broad thumb, Short phalanx of finger, Microgna... |
OMIM:616894 |
| Saethre-Chotzen Syndrome |
|
Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent first metatarsal, Delayed cra... |
OMIM:101400 |
| Arteriosclerosis, Severe Juvenile |
|
Short phalanx of finger, Dysplasia of second lumbar vertebra, Hip dysplasia |
OMIM:208060 |
| Retinoblastoma |
|
Rhabdomyosarcoma, Leiomyosarcoma, Retinoblastoma, Lymphoma, Ewing sarcoma, Melanoma, Glioma, Pine... |
ORPHA:790 |
| Chand Syndrome |
|
Short fifth metatarsal |
ORPHA:1401 |
| Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Axillary pterygium, Ulnar bowing, Pterygium, Absent palmar crease, Hypoplast... |
OMIM:263650 |
| Generalized Arterial Calcification Of Infancy |
|
Stippled calcification of the elbow, Hypophosphatemic rickets, Fused cervical vertebrae, Hydrops ... |
ORPHA:51608 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Broad finger, Short phalanx of finger, Abnormal hand morphology, Small hand |
OMIM:300845 |
| Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
| Liver Disease, Severe Congenital |
|
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Hyperammonemia,... |
OMIM:619991 |
| Rhombencephalosynapsis |
|
Polydactyly, Finger syndactyly, Short phalanx of finger, Microretrognathia, Complete duplication ... |
ORPHA:59315 |
| Craniofacial Microsomia 1 |
|
Genu valgum, Patent ductus arteriosus, Scoliosis, Hemivertebrae, Vertebral hypoplasia, Partial du... |
OMIM:164210 |
| Elsahy-Waters Syndrome |
|
Cutaneous finger syndactyly, Cervical C2/C3 vertebral fusion, Shortening of all phalanges of fing... |
OMIM:211380 |
| Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
| Retinoblastoma |
|
Retinoblastoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Pinealoma, Leukemia |
OMIM:180200 |
| Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
| Osteogenic Sarcoma |
|
Osteosarcoma, Retinoblastoma |
OMIM:259500 |
| Genitopatellar Syndrome |
|
Polyhydramnios, Knee flexion contracture, Scoliosis, Inferior pubic ramus hypoplasia, Congenital ... |
OMIM:606170 |
| Nance-Horan Syndrome |
|
Broad finger, Short phalanx of finger |
OMIM:302350 |
| Craniosynostosis And Dental Anomalies |
|
Chronic otitis media, Lambdoidal craniosynostosis, 2-3 toe syndactyly, Prominent metopic ridge, C... |
OMIM:614188 |
| Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
| Pallister-Killian Syndrome |
|
Kyphoscoliosis, Congenital diaphragmatic hernia, Edema of the dorsum of feet, Hip dislocation, Sa... |
OMIM:601803 |
