| 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 |
|
Platyspondyly, Limitation of joint mobility, Short toe, Thoracic kyphosis, Osteochondroma, Interv... |
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 |
|
Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos... |
OMIM:271650 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... |
ORPHA:93351 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Ankle flexion contracture, Cervical spinal canal stenosis, Osteochondroma, Knee flexion contractu... |
OMIM:620232 |
| Metachondromatosis |
|
Abnormal epiphysis morphology, Exostoses, Multiple enchondromatosis, Abnormal metaphysis morpholo... |
ORPHA:2499 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
| Multiple Osteochondromas |
|
Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,... |
ORPHA:321 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa... |
ORPHA:1856 |
| Brachydactyly Type C |
|
Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan... |
ORPHA:93384 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho... |
ORPHA:93307 |
| Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... |
ORPHA:564003 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
| Spondyloperipheral Dysplasia |
|
Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala... |
OMIM:271700 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Pes ... |
OMIM:251450 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Genu recurvatum, Broad thumb, Limitation of joint mobility, Short thumb, Interphalangeal joint co... |
OMIM:151200 |
| Brachydactyly Type E |
|
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E br... |
ORPHA:93387 |
| Acromesomelic Dysplasia 1 |
|
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... |
OMIM:602875 |
| Smith-Mccort Dysplasia 2 |
|
Platyspondyly, Hypoplasia of the odontoid process, Broad femoral neck, Genu valgum, Enlarged inte... |
OMIM:615222 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... |
OMIM:601438 |
| Ruvalcaba Syndrome |
|
Small hand, Kyphosis, Micromelia, Limited elbow extension, Short foot, Short metatarsal, Short ph... |
OMIM:180870 |
| Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Increased vertebral height, Osteochondroma, Arachnodactyly, Camptodactyly of toe, Wide femoral me... |
OMIM:610474 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir... |
OMIM:132400 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... |
OMIM:113000 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... |
ORPHA:93409 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
| Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ... |
OMIM:112450 |
| Dysspondyloenchondromatosis |
|
Platyspondyly, Anisospondyly, Joint dislocation, Lower limb asymmetry, Delayed skeletal maturatio... |
ORPHA:85198 |
| Jackson-Weiss Syndrome |
|
Coronal craniosynostosis, Broad hallux, Short first metatarsal, 2-3 toe syndactyly, Broad first m... |
OMIM:123150 |
| Pseudopseudohypoparathyroidism |
|
Short 5th finger, Short distal phalanx of the thumb, Ectopic ossification, Short 5th metacarpal, ... |
ORPHA:79445 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda... |
ORPHA:90650 |
| Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... |
OMIM:228900 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... |
ORPHA:370010 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Pes planus, Thoracolumbar scoli... |
ORPHA:457395 |
| Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
| Acromesomelic Dysplasia 4 |
|
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... |
OMIM:619636 |
| Brachydactyly, Type A1 |
|
Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h... |
OMIM:112500 |
| Marinesco-Sjogren Syndrome |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Kyphosis, M... |
OMIM:248800 |
| Acrodysostosis |
|
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... |
ORPHA:950 |
| Hoxha-Aliu Syndrome |
|
Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Broad foot, Patellar dis... |
OMIM:620662 |
| Adams-Oliver Syndrome 3 |
|
Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Absent toe, ... |
OMIM:614814 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Delayed skeletal maturatio... |
OMIM:190351 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... |
ORPHA:2064 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... |
OMIM:610017 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal scler... |
OMIM:609052 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
| Atelosteogenesis, Type I |
|
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Sh... |
OMIM:108720 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Talipes equinovarus, Short long bone, Vertebral fusion, Patent duc... |
OMIM:618845 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Scoliosis, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tars... |
OMIM:618469 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... |
OMIM:617102 |
| Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... |
ORPHA:79106 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalan... |
ORPHA:1436 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Broad thumb, Preaxial hand polydactyly, Radial club hand, Micrognathia, Brachydactyly, Short meta... |
ORPHA:1278 |
| Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs, Joint dislocation, Short finger, Amyoplasia, Micrognathia, Abnormal cervical curvature... |
OMIM:312150 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Peroneal muscle atrophy, Camptodactyly of finger, Abnormal foot morphology, Absent Achilles refle... |
ORPHA:324442 |
| Pde4D Haploinsufficiency Syndrome |
|
Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth, Short middle phalanx of f... |
ORPHA:439822 |
| Polydactyly, Postaxial, Type A7 |
|
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... |
OMIM:617642 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Kyphosis, Shoulder g... |
OMIM:606612 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... |
OMIM:605289 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Satoyoshi Syndrome |
|
Genu valgum, Osteolytic defects of the phalanges of the hand, Pes planus, Brachydactyly, Short me... |
OMIM:600705 |
| Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Hypoplasia of the ... |
ORPHA:1826 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Thin ribs, Joint dislocation, Short finger, Amyoplasia, Micrognathia, Abnormal cervical curvature... |
OMIM:253290 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cone-shaped epiphysis, Brachydactyly, Short metatarsal, Advanced ossification of carpal bones, Sh... |
OMIM:614613 |
| Jackson-Weiss Syndrome |
|
Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the phalanges of the hand, 2-3... |
ORPHA:1540 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Platyspondyly, Osteopenia, Proximal femoral epiphysiolysis, Delayed skeletal maturation, Small ep... |
OMIM:616723 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Fibrodysplasia Ossificans Progressiva |
|
Synostosis of joints, Abnormal vertebral morphology, Limitation of joint mobility, Ectopic ossifi... |
ORPHA:337 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... |
ORPHA:93315 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik... |
OMIM:605282 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Rib fusion,... |
OMIM:277300 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Equinovarus deformity, Recurrent otitis media, Broad foot, Broad phalanx, Metaphyseal dysplasia, ... |
ORPHA:2502 |
| Saul-Wilson Syndrome |
|
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ... |
OMIM:618150 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... |
OMIM:156500 |
| Thiemann Disease |
|
Avascular necrosis, Short phalanx of finger, Broad phalanx |
OMIM:165700 |
| Mesomelia-Synostoses Syndrome |
|
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Abnormal vertebr... |
OMIM:600383 |
| Cohen Syndrome |
|
Lumbar hyperlordosis, Genu valgum, Micrognathia, Single transverse palmar crease, Narrow palm, Th... |
OMIM:216550 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Short distal phalanx of finger, Cone-shaped epiphysis, Camptodactyly of finger, Shortening of all... |
ORPHA:77258 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short 4th metacarpal, Type E brachydactyly, Short metatarsal |
OMIM:113301 |
| Pseudopseudohypoparathyroidism |
|
Short neck, Brachydactyly, Osteoporosis, Short metatarsal, Short metacarpal |
OMIM:612463 |
| Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal shoulder morphology, Congenital muscular torticolli... |
ORPHA:2345 |
| Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:113400 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Rib exostoses, Recurrent otitis media, Micrognathia, Lumbar scoliosis, Thoracolumbar scoliosis, O... |
OMIM:150230 |
| Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification i... |
OMIM:135100 |
| Roifman-Chitayat Syndrome |
|
Pneumonia, Osteopenia, Cone-shaped epiphysis, Short neck, Arthritis, Short metatarsal, Short meta... |
OMIM:613328 |
| Trichorhinophalangeal Syndrome, Type I |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Clinodactyly, Delayed skel... |
OMIM:190350 |
| Wahab Syndrome |
|
Short thumb, Clinodactyly, Ankylosis, Adducted thumb, Camptodactyly, Short foot, Short metacarpal... |
OMIM:615170 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly of the 5th finger... |
OMIM:244600 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... |
OMIM:609945 |
| Leri-Weill Dyschondrosteosis |
|
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... |
OMIM:127300 |
| Oslam Syndrome |
|
Radial deviation of finger, Clinodactyly, Neoplasm, Radioulnar synostosis, Osteosarcoma |
OMIM:165660 |
| Postaxial Oligodactyly, Tetramelic |
|
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... |
OMIM:176240 |
| Oncogenic Osteomalacia |
|
Abnormal vertebral morphology, Neurofibroma, Osteosarcoma, Abnormal foot morphology, Pathologic f... |
ORPHA:352540 |
| Brachydactyly, Type E2 |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:613382 |
| Christian Syndrome |
|
Thoracic hemivertebrae, Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused... |
OMIM:309620 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... |
ORPHA:485 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pain, Hemivertebrae, ... |
OMIM:122600 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes... |
OMIM:208250 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Patchy osteosclerosis, Osteopenia, Skeletal muscle atrophy, Diaphyseal cortical sclerosis, Fractu... |
OMIM:112250 |
| Dysplasia Epiphysealis Hemimelica |
|
Abnormal epiphysis morphology, Abnormal femoral neck morphology, Irregular epiphyses, Joint stiff... |
ORPHA:1822 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Narrow pelvis bone, Abno... |
ORPHA:66637 |
| Exostoses, Multiple, Type Ii |
|
Rib exostoses, Genu valgum, Chondrosarcoma, Protuberances at ends of long bones, Coxa vara, Scapu... |
OMIM:133701 |
| Exostoses, Multiple, Type I |
|
Rib exostoses, Genu valgum, Chondrosarcoma, Protuberances at ends of long bones, Coxa vara, Scapu... |
OMIM:133700 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... |
ORPHA:1570 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... |
ORPHA:93356 |
| Arthrogryposis, Distal, Type 2B2 |
|
Hip dislocation, Sandal gap, Broad hallux, Short toe, Clinodactyly, Talipes equinovalgus, Overlap... |
OMIM:618435 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Weaver Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... |
OMIM:277590 |
| Pallister-Hall Syndrome |
|
Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... |
ORPHA:672 |
| Hypochondroplasia |
|
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal form of the vertebral bod... |
ORPHA:429 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... |
OMIM:602111 |
| Hand-Foot-Genital Syndrome |
|
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ... |
ORPHA:2438 |
| Acromicric Dysplasia |
|
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Delayed skeletal maturation, Ovoid vert... |
OMIM:102370 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, Small hand, Finger syndactyly, Camptodactyly of finger, Single transverse palmar... |
ORPHA:915 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint... |
ORPHA:1427 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Pes planus, Beaking of vertebral bodies, Broad toe, Flat acetabular roof,... |
OMIM:609616 |
| Hand-Foot-Genital Syndrome |
|
Short 5th finger, Shortening of all middle phalanges of the fingers, Short 1st metacarpal, Ulnar ... |
OMIM:140000 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Elbow dislocation, Abnormal form of the vertebral bodies, Congenital muscular torticollis, Hypopl... |
ORPHA:2916 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Brachydactyly Type A1 |
|
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... |
ORPHA:93388 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, Micrognathia, Apl... |
ORPHA:3320 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Short fifth metatarsal, Increased carrying angle, Recurrent otitis media, Lower limb pain, Joint ... |
OMIM:261990 |
| Kbg Syndrome |
|
Persistent open anterior fontanelle, Finger clinodactyly, Cervical ribs, Delayed skeletal maturat... |
ORPHA:2332 |
| Larsen Syndrome |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Beaking of vertebral bodi... |
OMIM:150250 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Thoracic hemivertebrae, Narrow palm, Fused thoracic vertebrae, Scoliosi... |
ORPHA:1445 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Popliteal pterygium, Cervical spinal canal stenosis, Carpal synostosis, Elbow flexion contracture... |
OMIM:178110 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Calf muscle hypertrophy, Thigh hypertrophy, ... |
OMIM:607155 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Small hand, Toe syndactyly, Scoliosis, Slender long bone, Delayed skeletal maturation, Micrognath... |
OMIM:170390 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Fusion of midcervical facet joints, Limb muscle weakness, Widening of cervical s... |
OMIM:606842 |
| Osteoglophonic Dysplasia |
|
Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Short neck, Broad phalan... |
OMIM:166250 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... |
ORPHA:1836 |
| Zechi-Ceide Syndrome |
|
Long foot, Short distal phalanx of finger, Short metatarsal, Sandal gap |
OMIM:612916 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn... |
ORPHA:93360 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Lumbar hyperlordosis, Butterfly vertebrae, 2-3 toe syndactyly, Vertebral fusion, Thoracic kyphosc... |
ORPHA:313892 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Short distal phalanx of finger, Short 1st metacarpal, Short first metatarsal, Prominent interdigi... |
OMIM:601957 |
| Frontometaphyseal Dysplasia 1 |
|
Hypoplasia of the musculature, Broad phalanges of the hand, Partial fusion of carpals, Carpal syn... |
OMIM:305620 |
| Brachydactyly, Type E1 |
|
Type E brachydactyly, Short clavicles, Brachydactyly, Short metatarsal, Short metacarpal |
OMIM:113300 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Cervical C2/C3 vertebral fusion, Short neck, Abnormal limb bone ... |
OMIM:118100 |
| Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ... |
ORPHA:93396 |
| Odontochondrodysplasia 1 |
|
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... |
OMIM:184260 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Epiphysea... |
OMIM:101800 |
| Distal Deletion 10Q |
|
Clinodactyly, Micrognathia, Pes planus, Patent ductus arteriosus, Hip dislocation, Prominent fing... |
ORPHA:96148 |
| Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... |
OMIM:272460 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... |
ORPHA:93383 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
| Tolchin-Le Caignec Syndrome |
|
Micrognathia, Diastasis recti, Cardiac rhabdomyoma, Osteochondroma, Arachnodactyly, Clinodactyly ... |
OMIM:618971 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited... |
OMIM:614078 |
| Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Platyspondyly, Abnormal metacarpal morphology |
OMIM:269630 |
| Pseudohypoparathyroidism, Type Ia |
|
Short toe, Short finger, Short neck, Subcutaneous ossification, Brachydactyly, Osteoporosis, Shor... |
OMIM:103580 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Short distal phalanx of the thumb, Cardiac rhabdomyoma, Basal cell carcinoma, Planta... |
OMIM:109400 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
| Cri-Du-Chat Syndrome |
|
Microretrognathia, Diastasis recti, Single transverse palmar crease, Short neck, Pes planus, Meta... |
OMIM:123450 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Eczematoid dermatitis, Patellar hypoplasia, Short neck, Brachydactyly, Short fourth metatarsal |
ORPHA:464288 |
| Acheiropody |
|
Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... |
OMIM:200500 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Recurre... |
OMIM:215150 |
| Rubinstein-Taybi Syndrome 2 |
|
Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Micro... |
OMIM:613684 |
| Smith-Mccort Dysplasia 1 |
|
Platyspondyly, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoid process, ... |
OMIM:607326 |
| Verheij Syndrome |
|
Short 5th finger, Clinodactyly, Joint hypermobility, Short neck, Hemivertebrae, Vertebral fusion,... |
OMIM:615583 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ... |
ORPHA:1423 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Talipes calcaneovalgus, Exostosis of the external auditory canal, Microgna... |
OMIM:265000 |
| Ritscher-Schinzel Syndrome 3 |
|
Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Micrognathia, Ulnar bowing, P... |
OMIM:619135 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Micromelia, Metaphyseal spurs, Posterior rib cupping, Irregular epiphyses, Small e... |
OMIM:608728 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Proximal/middle sympha... |
OMIM:184460 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... |
ORPHA:140908 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Micrognathia, Acetabular dysplasia, Myopathy, Cervical C2/C3 vertebral fusion, S... |
OMIM:616549 |
| Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E... |
OMIM:201250 |
| Sillence Syndrome |
|
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... |
ORPHA:3168 |
| Shox-Related Short Stature |
|
Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Madelung deformity, Cubi... |
ORPHA:314795 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short hu... |
OMIM:619598 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short toe, Eczematoid dermatitis, Type E brachydactyly, Short fourth metatarsal, Short phalanx of... |
OMIM:600430 |
| Gorlin Syndrome |
|
Abnormal vertebral morphology, Palmar pits, Basal cell carcinoma, Plantar pits, Vertebral wedging... |
ORPHA:377 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Platyspondyly, Hip osteoarthritis, Osteoarthritis, Flattened metatarsal heads, Flattened metacarp... |
OMIM:271600 |
| Li-Fraumeni Syndrome |
|
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... |
ORPHA:524 |
| Atelosteogenesis Type Ii |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath... |
ORPHA:56304 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Platyspondyly, Osteopenia, Joint contracture of the hand, Broad femoral neck, Flared metaphysis, ... |
OMIM:612350 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Prominent fingertip pads, Overlapping toe, Bilateral camptodactyly, Short fourth metatarsal, Hip ... |
OMIM:619557 |
| Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Overlapping toe, Cutaneous finger syndactyly, Micrognathia, Talipes equino... |
OMIM:114300 |
| Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Broad thumb, Finger clinodactyly, Flared metaphysis, Decreased muscle... |
OMIM:617137 |
| Weill-Marchesani Syndrome 2 |
|
Broad phalanges of the hand, Delayed skeletal maturation, Short finger, Elbow flexion contracture... |
OMIM:608328 |
| Van Maldergem Syndrome 1 |
|
Osteopenia, Clinodactyly, Tracheomalacia, Abnormal foot morphology, Cutaneous finger syndactyly, ... |
OMIM:601390 |
| Oslam Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Osteosarcoma |
ORPHA:2760 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Recurrent otitis media, Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyse... |
OMIM:250420 |
| Ollier Disease |
|
Platyspondyly, Micromelia, Joint stiffness, Neoplasm, Visceral angiomatosis, Hemangioma, Sarcoma,... |
ORPHA:296 |
| Otopalatodigital Syndrome, Type Ii |
|
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... |
OMIM:304120 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Short distal phalanx of finger, Small hand, Cone-shaped epiphysis, Rhizomelia, Clinodactyly, Hypo... |
OMIM:614813 |
| Zechi-Ceide Syndrome |
|
Long foot, Short distal phalanx of finger, Short metatarsal, Sandal gap |
ORPHA:217017 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... |
OMIM:609813 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Talipes equinovaru... |
OMIM:134780 |
| Arthrogryposis, Distal, Type 11 |
|
Talipes equinovarus, Absent proximal finger flexion creases, Limited pronation/supination of fore... |
OMIM:620019 |
| Pitt-Hopkins Syndrome |
|
Short fifth metatarsal, Small hand, Clinodactyly, Prominent fingertip pads, Sacral dimple, Overla... |
OMIM:610954 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... |
ORPHA:3344 |
| Pseudohypoparathyroidism, Type Ic |
|
Short neck, Brachydactyly, Osteoporosis, Short metatarsal, Short metacarpal |
OMIM:612462 |
| Metachondromatosis |
|
Multiple digital exostoses, Abnormal joint morphology, Bowing of the long bones, Multiple enchond... |
OMIM:156250 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
OMIM:274000 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... |
OMIM:610713 |
| Rothmund-Thomson Syndrome Type 2 |
|
Neoplasm of the skin, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, Me... |
ORPHA:221016 |
| Gaisböck Syndrome |
|
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... |
ORPHA:90041 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Knee dislocation, Micrognathia, Thoracic scoliosis, Cervical C2/C3 vertebral fusion, ... |
OMIM:618000 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... |
OMIM:268310 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, Short neck, Co... |
OMIM:266920 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... |
OMIM:300106 |
| Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:158048 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal hip bone morphology, Micrognathia, Short neck, Hyperlordosis, Abnormal rib morphology, K... |
ORPHA:2522 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Missing rib... |
OMIM:613686 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
| Developmental And Epileptic Encephalopathy 95 |
|
Short distal phalanx of finger, Macroglossia, Short fourth metatarsal, Multiple joint contracture... |
OMIM:618143 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Platyspondyly, Rhizomelia, Broad thumb, Delayed skeletal maturation, Short 5th metacarpal, Femora... |
OMIM:619638 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
| Caudal Regression Syndrome |
|
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Decreased muscle mass, ... |
ORPHA:3027 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Bone pain, Osteolysis, Osteosarcoma |
OMIM:167250 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Hypoplastic iliac wing, Carpal bone hypoplasia, Short neck, Shor... |
OMIM:611717 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial... |
ORPHA:2249 |
| Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... |
ORPHA:93323 |
| Nievergelt Syndrome |
|
Genu valgum, Pes cavus, Talipes equinovarus, Radioulnar synostosis, Radial head subluxation, Meta... |
OMIM:163400 |
| Acro-Renal-Ocular Syndrome |
|
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... |
ORPHA:959 |
| Van Maldergem Syndrome 2 |
|
Osteopenia, Cutaneous syndactyly of toes, Clinodactyly, Tracheomalacia, Cutaneous finger syndacty... |
OMIM:615546 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
| Proximal Symphalangism |
|
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... |
ORPHA:3250 |
| Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals |
OMIM:618724 |
| Anauxetic Dysplasia 1 |
|
Atlantoaxial dislocation, Hip contracture, Short neck, Short foot, Hypoplastic ilia, Short toe, S... |
OMIM:607095 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty... |
ORPHA:90652 |
| Fibrous Dysplasia Of Bone |
|
Osteomalacia, Abnormal tibia morphology, Bowing of the long bones, Abnormal morphology of the rad... |
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 |
|
Acne, Abnormal vertebral morphology, Inflammation of the large intestine, Abnormal epiphysis morp... |
ORPHA:324964 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac... |
ORPHA:3329 |
| Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal |
OMIM:112410 |
| Diamond-Blackfan Anemia 21 |
|
Short toe, Sandal gap, Preaxial hand polydactyly, Osteosarcoma, Genu valgum, Micrognathia, Cubitu... |
OMIM:620072 |
| Nicolaides-Baraitser Syndrome |
|
Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Eczematoid dermatitis, Delayed skeleta... |
OMIM:601358 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Sacroiliac arthritis, Abnormal thoracic spine morphology, Abnormal metatarsal morphology, Knee os... |
ORPHA:85438 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... |
OMIM:609441 |
| Bardet-Biedl Syndrome 17 |
|
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han... |
OMIM:615994 |
| Achondroplasia |
|
Radial bowing, Recurrent otitis media, Narrow vertebral interpedicular distance, Genu varum, Femo... |
OMIM:100800 |
| Richieri Costa-Da Silva Syndrome |
|
Vertebral wedging, Decreased muscle mass, Decreased anterioposterior diameter of lumbar vertebral... |
ORPHA:3101 |
| Mesomelia-Synostoses Syndrome |
|
Synostosis of joints, Synostosis of carpal bones, Abnormal tibia morphology, Genu valgum, Microgn... |
ORPHA:2496 |
| Pseudohypoparathyroidism Type 1C |
|
Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca... |
ORPHA:79444 |
| Myhre Syndrome |
|
Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Enlarged ver... |
OMIM:139210 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... |
OMIM:276820 |
| Platyspondylic Dysplasia, Torrance Type |
|
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Microme... |
ORPHA:85166 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Broad thumb, Broad foot, Short neck, Pes planus, Radial head subluxation, A... |
OMIM:615777 |
| Rothmund-Thomson Syndrome Type 1 |
|
Neoplasm of the skin, Patellar aplasia, Melanoma, Calcinosis, Basal cell carcinoma, Leukemia, Gen... |
ORPHA:221008 |
| Achondrogenesis Type 2 |
|
Hypoplastic ilia, Unossified sacrum, Micromelia, Absent vertebral body mineralization, Delayed pu... |
ORPHA:93296 |
| Otopalatodigital Syndrome, Type I |
|
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... |
OMIM:311300 |
| Koolen-De Vries Syndrome |
|
Slender finger, Kyphosis, Prominent fingertip pads, Eczematoid dermatitis, Positional foot deform... |
OMIM:610443 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot |
OMIM:313350 |
| Alkaptonuria |
|
Limited hip movement, Intervertebral disk degeneration, Thickened Achilles tendon, Arthropathy, L... |
OMIM:203500 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Recurrent otitis media, Overlapping toe, Micrognathia, Talipes equinovarus, Short neck, Pes planu... |
OMIM:213980 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Block vertebrae, Supernumerary vertebrae, Oligohydramnios, Short ribs, Missing ribs, R... |
OMIM:271520 |
| Bruck Syndrome 2 |
|
Platyspondyly, Osteopenia, Elbow flexion contracture, Pterygium, Femoral bowing, Increased suscep... |
OMIM:609220 |
| Gorham-Stout Disease |
|
Osteopenia, Edema, Pathologic fracture, Osteomyelitis, Abnormal femur morphology, Pleural effusio... |
ORPHA:73 |
| Kbg Syndrome |
|
Radial deviation of finger, Delayed skeletal maturation, Cervical ribs, Ulnar deviation of the 2n... |
OMIM:148050 |
| Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... |
ORPHA:85170 |
| Pitt-Hopkins Syndrome |
|
Small hand, Finger clinodactyly, Esophagitis, Narrow foot, Single transverse palmar crease, Hodgk... |
ORPHA:2896 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia |
OMIM:256300 |
| Lamb-Shaffer Syndrome |
|
Micrognathia, Fused cervical vertebrae, Hip dysplasia, Scoliosis, Thoracic kyphosis |
ORPHA:530983 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Trisomy 8P |
|
Short fifth metatarsal, Short 1st metacarpal, Clinodactyly of the 2nd finger, Clinodactyly of hal... |
ORPHA:264450 |
| Santos Syndrome |
|
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
| Simpson-Golabi-Behmel Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Congenital diaphragmatic hernia, Broad foot, Tali... |
ORPHA:373 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Genu valgum, Brachydactyly, Short phalanx of finger, Coxa valga |
OMIM:132450 |
| Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... |
OMIM:215140 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Broad ribs, Joint swelling, Skin rash, Pustule, Flaring of rib cage, S... |
OMIM:612852 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... |
OMIM:186500 |
| Duane-Radial Ray Syndrome |
|
Aplasia of metacarpal bones, Pes planus, Small thenar eminence, Absent radius, Fused cervical ver... |
OMIM:607323 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Intervertebral space ... |
OMIM:143095 |
| Pseudohypoparathyroidism Type 1A |
|
Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossifica... |
ORPHA:79443 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... |
OMIM:600785 |
| Li-Fraumeni Syndrome |
|
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... |
OMIM:151623 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Platyspondyly, Shortening of all phalanges of fingers, Wormian bones, Limb undergrowth, Shortenin... |
OMIM:601356 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Camptodactyly, Talipes equinovarus, Cervical C2/C3 vertebral fusion, Joint hypermobility |
OMIM:617333 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Ankle swelling, Abnormal shoulder morphology, Abnormal hip joint morphology, ... |
ORPHA:85408 |
| Refsum Disease, Classic |
|
Short fourth metatarsal, Pes cavus, Limb muscle weakness |
OMIM:266500 |
| Contractural Arachnodactyly, Congenital |
|
Micrognathia, Hip contracture, Arachnodactyly, Talipes equinovarus, Bowing of the long bones, Sho... |
OMIM:121050 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ... |
OMIM:250220 |
| Opsismodysplasia |
|
Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flat acetabular roof, Short... |
OMIM:258480 |
| Baller-Gerold Syndrome |
|
Finger aplasia, Aplasia/Hypoplasia of the radius, Lymphoma, Micrognathia, Aplasia/Hypoplasia of t... |
ORPHA:1225 |
| Moebius Syndrome |
|
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... |
OMIM:157900 |
| Lateral Meningocele Syndrome |
|
Kyphosis, Decreased muscle mass, Sclerosis of skull base, Micrognathia, Biconcave vertebral bodie... |
OMIM:130720 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Rectus femoris muscle atrophy, Muscular dystrophy... |
ORPHA:98905 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
| Shashi-Pena Syndrome |
|
Kyphosis, Cervical C2/C3 vertebral fusion, Deep palmar crease, Patent ductus arteriosus, Limb hyp... |
OMIM:617190 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Midclavicular aplasia, Laryngeal papilloma, Congenital diaphragmatic hernia, Foot... |
OMIM:305600 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... |
OMIM:259600 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, O... |
OMIM:307800 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Platyspondyly, Abnormal epiphysis morphology, Meta... |
ORPHA:85167 |
| Koolen-De Vries Syndrome |
|
Kyphosis, Vertebral segmentation defect, Arachnodactyly, Joint hypermobility, Vertebral fusion, S... |
ORPHA:96169 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal... |
OMIM:606895 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Joint hypermobility, Bowing ... |
OMIM:617952 |
| Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Hypoplastic ilia, Kyphosis, Micromelia, Joint stiffness, Femoral bowing, Increased... |
ORPHA:1860 |
| Wildervanck Syndrome |
|
Short neck, Facial palsy, Fused cervical vertebrae |
ORPHA:3456 |
| Mosaic Trisomy 20 |
|
Clinodactyly, Spinal canal stenosis, Micrognathia, Down-sloping shoulders, Vertebral segmentation... |
ORPHA:1724 |
| Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes,... |
OMIM:601559 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Down-sloping shoulders, Vertebral fusion, Broad palm, Metatarsus adductus, Camptodactyly, Clinoda... |
OMIM:227330 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Scoliosis, Recurrent fractures |
OMIM:615066 |
| Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Platyspondyly, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ... |
OMIM:620076 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes |
|
Small hand, Clinodactyly, Perianal abscess, Brachydactyly, Pericardial effusion, Short phalanx of... |
OMIM:614684 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Clinodactyly of the 2nd finger, Micrognathia, Pes planus, Diaphyseal undertubulation, Patellar di... |
OMIM:620663 |
| Fibrochondrogenesis 1 |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Sho... |
OMIM:228520 |
| Kyphomelic Dysplasia |
|
Platyspondyly, Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Pteryg... |
OMIM:211350 |
| Yunis-Varon Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Micrognathia, Bilateral... |
OMIM:216340 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Short neck, Pes planus, Cervi... |
ORPHA:508498 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short distal phalanx of finger, Joint dislocation, Short toe, Camptodactyly of finger, Short 4th ... |
ORPHA:3201 |
| Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Hepatitis, Lymphedema, Ascites, Abnormal hip bone m... |
ORPHA:584 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... |
ORPHA:247585 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Short neck, Broad phalanx, An... |
OMIM:271665 |
| Aicardi Syndrome |
|
Block vertebrae, Recurrent pneumonia, Butterfly vertebrae, Metastatic angiosarcoma, Teratoma, Mis... |
OMIM:304050 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed skeletal maturation, Recurrent otitis media, Micrognathia, Short 4th metacarpal, Cubitus ... |
ORPHA:1772 |
| Peters-Plus Syndrome |
|
Square pelvis bone, Micrognathia, Broad foot, Limited elbow movement, Short neck, Short foot, Sho... |
OMIM:261540 |
| Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Wormian bones, Tapered finger, Flat acetabular roof, Short femoral neck, Patent ... |
OMIM:617159 |
| Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Hypoplastic ilia, Flared metaphysis, Broad long bones, Mesomelic/rhizomelic limb s... |
ORPHA:2347 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Abn... |
OMIM:200610 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... |
ORPHA:508533 |
| Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Platyspondyly, Osteopenia, Kyphosis, Slender long bone, Radial bowing, Femoral bowing,... |
OMIM:610915 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Recurrent otitis media, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femo... |
OMIM:608940 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... |
OMIM:142900 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Recurrent otitis media, Micrognathia, Broad foot, Pes planus, Patent ductus arteriosus, Slender f... |
OMIM:619841 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short thumb, Short 1st metacarpal, Short neck, Hypoplasia of the radius, Fused cerv... |
OMIM:609053 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... |
OMIM:135750 |
| Diamond-Blackfan Anemia 1 |
|
Hypoplastic ilia, Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Absent thumb, Short ... |
OMIM:105650 |
| Pachydermoperiostosis |
|
Neoplasm of the lung, Neoplasm of the skin, Small hand, Clubbing of toes, Abnormal epiphysis morp... |
ORPHA:2796 |
| Wiedemann-Steiner Syndrome |
|
Short 5th finger, Small hand, Short toe, Delayed skeletal maturation, Recurrent otitis media, Lon... |
OMIM:605130 |
| Geroderma Osteodysplasticum |
|
Platyspondyly, Osteopenia, Periodontitis, Femoral bowing, Increased susceptibility to fractures, ... |
OMIM:231070 |
| Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Preaxial hand polydactyly, Microg... |
ORPHA:233 |
| Aicardi Syndrome |
|
Block vertebrae, Small hand, Butterfly vertebrae, Intestinal polyposis, Missing ribs, Supernumera... |
ORPHA:50 |
| Apert Syndrome |
|
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... |
OMIM:101200 |
| Sapho Syndrome |
|
Inflammation of the large intestine, Craniofacial osteosclerosis, Abnormality of the vertebral co... |
ORPHA:793 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short distal phalanx of finger, Eczematoid dermatitis, Cubitus valgus, Short neck, Brachydactyly,... |
OMIM:617157 |
| Martsolf Syndrome 1 |
|
Broad femoral neck, Short toe, Slender ulna, Talipes valgus, Tracheomalacia, Avascular necrosis o... |
OMIM:212720 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar... |
OMIM:268305 |
| Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Micrognathia, Talipes equinovarus, Radioulnar synostosis, Short hallux, Hi... |
OMIM:194190 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino... |
OMIM:271640 |
| Majeed Syndrome |
|
Acne, Inflammatory abnormality of the skin, Osteomyelitis, Increased susceptibility to fractures,... |
ORPHA:77297 |
| Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Sandwich appearance of vertebral bodies, Bone pain, Sclerosis of sku... |
OMIM:602080 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... |
OMIM:603553 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Stiff neck, Broad ribs, Overlapping fingers, Femo... |
OMIM:617022 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... |
OMIM:166740 |
| Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hypothalamic hamartoma, Hemive... |
OMIM:206900 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Osteopenia, Femoral bowing, Osteoporosis, Scoliosis, Recurrent fractures |
OMIM:126550 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Small hand, Short thumb, Micrognathia, Kyphoscoliosis, Talipes equino... |
OMIM:268400 |
| Codas Syndrome |
|
Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Scoliosis, Dela... |
OMIM:600373 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
| Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... |
OMIM:114290 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Hamartoma of tongue, Acetabular s... |
OMIM:613091 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... |
ORPHA:26793 |
| Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot pol... |
ORPHA:1106 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
| Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Micrognathia, Widening of cervical spinal... |
OMIM:253310 |
| Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
| Townes-Brocks Syndrome 1 |
|
Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Pseudoepiphyses of second metacarpal,... |
OMIM:107480 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
| Robinow Syndrome |
|
Short distal phalanx of finger, Radioulnar dislocation, Micrognathia, Kyphoscoliosis, Missing rib... |
ORPHA:97360 |
| Apert Syndrome |
|
Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Cervical C5/C6 vertebrae fusion, Vert... |
ORPHA:87 |
| Cardiospondylocarpofacial Syndrome |
|
Cone-shaped epiphysis, Delayed skeletal maturation, Carpal synostosis, Fusion of middle ear ossic... |
OMIM:157800 |
| Atypical Werner Syndrome |
|
Neoplasm of the skin, Limitation of joint mobility, Sclerosis of hand bone, Neoplasm of the oral ... |
ORPHA:79474 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ... |
ORPHA:93357 |
| Premature Aging Syndrome, Okamoto Type |
|
Osteoporosis, Neoplasm, Osteosarcoma |
OMIM:601811 |
| Osteogenesis Imperfecta, Type Iv |
|
Femoral bowing present at birth, straightening with time, Recurrent fractures, Reduced bone miner... |
OMIM:166220 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Platyspondyly, Osteopenia, Scoliosis, Periodontitis, Short toe, Clinodactyly of the 5th finger, S... |
OMIM:619269 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
