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 toe, Intervertebral space narrowing, Flexion contracture, Irregular vertebral endplates, Co... |
OMIM:609162 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad femoral neck, Genu valgum, Upper limb undergrowth, Hypoplastic sacrum, Coxa vara, Capitate-... |
OMIM:271650 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad foot, Abnormal carpal morphology, Abnormal rib morphology, Abnormal metaphysis morphology, ... |
ORPHA:93351 |
Metachondromatosis |
|
Avascular necrosis, Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal epiphysis... |
ORPHA:2499 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
Multiple Osteochondromas |
|
Coxa valga, Abnormal carpal morphology, Limb undergrowth, Genu valgum, Abnormality of the knee, A... |
ORPHA:321 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Limited elbow extension, Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Ir... |
ORPHA:1856 |
Brachydactyly Type C |
|
Metatarsus valgus, Symphalangism affecting the phalanges of the hand, Complete duplication of dis... |
ORPHA:93384 |
Osteochondrosis Of The Metatarsal Bone |
|
Pedal edema, Avascular necrosis, Abnormality of the fifth metatarsal bone, Flattened metatarsal h... |
ORPHA:564003 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Skewfoot, Broad foot, Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, ... |
ORPHA:93307 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... |
OMIM:271700 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Short phalanx of finger, Hallux valgus, Short metacarpal, Limitation of joint mobility, Joint sti... |
OMIM:151200 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Short metacarpal, Rhizomelia, Platyspondyly, Brachydactyly, Short metatarsal, Deformed... |
OMIM:601438 |
Brachydactyly Type E |
|
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Upper limb asymmetry, S... |
ORPHA:93387 |
Smith-Mccort Dysplasia 2 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Metaphyseal irregularity, Hyperlordosis... |
OMIM:615222 |
Ruvalcaba Syndrome |
|
Short phalanx of finger, Small hand, Short foot, Short metacarpal, Kyphosis, Micromelia, Scoliosi... |
OMIM:180870 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Increased vertebral height, Camptodactyly of toe, Camptodactyly, Broad femoral metaphyses, Osteoc... |
OMIM:610474 |
Acromesomelic Dysplasia 1 |
|
Short phalanx of finger, Ovoid vertebral bodies, Limited elbow extension, Beaking of vertebral bo... |
OMIM:602875 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Irregular vertebral endplates, Short fe... |
OMIM:132400 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Dyggve-Melchior-Clausen Disease |
|
Broad foot, Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow gr... |
OMIM:223800 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Brachydactyly, Type B1 |
|
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Jo... |
OMIM:113000 |
Brachydactyly-Syndactyly, Zhao Type |
|
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... |
ORPHA:93409 |
Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
Dysspondyloenchondromatosis |
|
Genu valgum, Joint dislocation, Generalized joint laxity, Vertebral segmentation defect, Multiple... |
ORPHA:85198 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short phalanx of finger, Avascular necrosis of the capital femoral epiphysis, Short foot, Short m... |
OMIM:190351 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metatarsal, Short metacarpal, Short hallux, Short distal phalanx of finger, Hallux varus, S... |
OMIM:112450 |
Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Abnormality of the tarsal bones, Increased bone mineral density, Syn... |
ORPHA:90650 |
Metachondromatosis |
|
Multiple enchondromatosis, Abnormal joint morphology, Bowing of the long bones, Multiple digital ... |
OMIM:156250 |
Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Short metacarpal, Patellar ... |
OMIM:228900 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Ossifying fibroma of the jaw, Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irr... |
ORPHA:457395 |
Jackson-Weiss Syndrome |
|
Broad first metatarsal, 2-3 toe syndactyly, Broad distal phalanx of the hallux, Short first metat... |
OMIM:123150 |
Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Beaking of vertebral bodies, Thoracic platyspondyly, Lumbar hyperlordosi... |
OMIM:619636 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
Brachydactyly, Type A1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Flattened metatarsal heads, Short metacar... |
OMIM:112500 |
Marinesco-Sjogren Syndrome |
|
Flexion contracture, Coxa valga, Centrally nucleated skeletal muscle fibers, Short metacarpal, Ky... |
OMIM:248800 |
Adams-Oliver Syndrome 3 |
|
Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Absent toe, Short distal phalanx of finger, ... |
OMIM:614814 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Joint stiffness, Abn... |
ORPHA:2064 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal irregularity, Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Metaphy... |
OMIM:609052 |
Pseudoachondroplasia |
|
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... |
OMIM:177170 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Absent phalangeal crease, Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, S... |
OMIM:618469 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbow dis... |
OMIM:108720 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Sacral dimple, Vertebral fusion, Short long bone, Vertebral segmentatio... |
OMIM:618845 |
Eiken Syndrome |
|
Short phalanx of finger, Short toe, Metaphyseal irregularity, Broad foot, Abnormal bone ossificat... |
ORPHA:79106 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Lum... |
ORPHA:174 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Brachyda... |
ORPHA:1436 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Preaxial hand polydactyly, Short metacarpal, Micrognathia, Broad thumb, Brachyd... |
ORPHA:1278 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Flat acetabular roof, Cone-shape... |
OMIM:617102 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Multiple Pterygium Syndrome, X-Linked |
|
Polyhydramnios, Vertebral fusion, Flexion contracture, Joint dislocation, Abnormal cervical curva... |
OMIM:312150 |
Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Short toe, Broad foot, Upper limb undergrowth, Irregular vertebral endpl... |
ORPHA:439822 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Camptodactyly of finger, Peroneal muscle atrophy, Weakness of long finger extensor muscles, Flexi... |
ORPHA:324442 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial hand polydactyly, 2-3 toe cutaneous syndactyly, Short fifth metatarsal, Postaxial foot ... |
OMIM:617642 |
Split-Hand/Foot Malformation 4 |
|
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... |
OMIM:605289 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Congenital muscular dystrophy... |
OMIM:606612 |
Multiple Pterygium Syndrome, Lethal Type |
|
Polyhydramnios, Vertebral fusion, Flexion contracture, Joint dislocation, Abnormal cervical curva... |
OMIM:253290 |
Acrodysostosis |
|
Short toe, Short metacarpal, Hypoplasia of the radius, Epiphyseal stippling, Abnormal morphology ... |
ORPHA:950 |
Frontometaphyseal Dysplasia |
|
Short diaphyses, Short phalanx of finger, Camptodactyly of finger, Wrist flexion contracture, Mic... |
ORPHA:1826 |
Satoyoshi Syndrome |
|
Osteolytic defects of the phalanges of the hand, Genu valgum, Short metacarpal, Skeletal muscle h... |
OMIM:600705 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Advanced ossification of carpal bones, Short metacarpal, Spinal canal st... |
OMIM:614613 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Corner fracture of metaphysis, Limb pain, Short neck, Ovoid vertebral bodie... |
ORPHA:93315 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, Brachydacty... |
OMIM:605282 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Preaxial f... |
ORPHA:1540 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Broad foot, Broad tibial metaphyses, Short palm, Broad phalanx, Recurrent otitis media, Bowing of... |
ORPHA:2502 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... |
OMIM:277300 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Thoracolumbar scoliosis, Short femoral neck, Short metacarpal, Narrow pelvis bone, Carpal bone hy... |
OMIM:616723 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal cupping of proximal phalanges, Metaphyseal chondrodysplasia, Irregular acetabular roo... |
OMIM:156500 |
Thiemann Disease |
|
Short phalanx of finger, Broad phalanx, Avascular necrosis |
OMIM:165700 |
Cohen Syndrome |
|
Genu valgum, Tapered finger, Thoracic scoliosis, Short metacarpal, Micrognathia, Joint hypermobil... |
OMIM:216550 |
Saul-Wilson Syndrome |
|
Irregular vertebral endplates, Coxa valga, Madelung deformity, Short metacarpal, Enlarged epiphys... |
OMIM:618150 |
Pseudopseudohypoparathyroidism |
|
Short 5th finger, Short 4th metacarpal, Short 5th metacarpal, Ectopic ossification, Short distal ... |
ORPHA:79445 |
Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femoral epiphysis, Shor... |
ORPHA:77258 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Genu varum, Pear-shaped vertebrae, Short femoral neck, Coxa vara, Rhizomelia, Decreased hip abduc... |
OMIM:183849 |
Trichorhinophalangeal Syndrome, Type I |
|
Hyperlordosis, Ivory epiphyses of the distal phalanges of the hand, Avascular necrosis of the cap... |
OMIM:190350 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Short 4th metacarpal, Type E brachydactyly |
OMIM:113301 |
Mesomelia-Synostoses Syndrome |
|
Short phalanx of finger, Polyhydramnios, Progressive forearm bowing, Tarsometatarsal synostosis, ... |
OMIM:600383 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... |
OMIM:112910 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:113400 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short neck, Brachydactyly, Short metatarsal, Osteoporosis |
OMIM:612463 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Hip subluxation, Coxa valga, Micrognathia, Multiple long-bone exostoses, Scapular winging, Avascu... |
OMIM:150230 |
Isolated Klippel-Feil Syndrome |
|
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Short neck, Scoliosis, Ab... |
ORPHA:2345 |
Roifman-Chitayat Syndrome |
|
Short metacarpal, Arthritis, Short neck, Osteopenia, Short metatarsal, Pneumonia, Cone-shaped epi... |
OMIM:613328 |
Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Hallux valgus, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic... |
OMIM:135100 |
Wahab Syndrome |
|
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Ankylosis, Adducted thumb, Syndactyly,... |
OMIM:615170 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Increased carrying ang... |
OMIM:127300 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middl... |
OMIM:309620 |
Oslam Syndrome |
|
Clinodactyly, Radioulnar synostosis, Radial deviation of finger, Neoplasm, Osteosarcoma |
OMIM:165660 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Congenital finger flexion contractures, Wrist flexion contracture, Synovial hypertrophy, Coxa var... |
OMIM:208250 |
Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... |
OMIM:244600 |
Brachydactyly, Type E2 |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:613382 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... |
OMIM:176240 |
Oncogenic Osteomalacia |
|
Increased susceptibility to fractures, Abnormality of the tarsal bones, Abnormal foot morphology,... |
ORPHA:352540 |
Dysplasia Epiphysealis Hemimelica |
|
Genu varum, Genu valgum, Recurrent fractures, Flattened femoral head, Osteoarthritis, Accelerated... |
ORPHA:1822 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Toe syndactyly, Flared iliac wing, Micr... |
OMIM:609945 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Fibrosarcoma, Limb-girdle muscle weakness, Histiocytoma, Osteomyelitis leading to amputation due ... |
OMIM:112250 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior... |
OMIM:122600 |
Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Missing ribs, Narrow pelvis bone, Abnormal vertebr... |
ORPHA:66637 |
Verheij Syndrome |
|
Vertebral fusion, Short 5th finger, Clinodactyly, Hip dislocation, Short neck, Scoliosis, Hemiver... |
OMIM:615583 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Vertebral segmentation defect, Abnor... |
ORPHA:1570 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Pear-shaped vertebrae, Short lower limbs, Femoral bowing, F... |
ORPHA:93356 |
Kniest Dysplasia |
|
Dumbbell-shaped long bone, Short neck, Delayed patellar ossification, Enlarged joints, Cervical s... |
ORPHA:485 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Genu varum, Flared, irregular rib ends, Metaphyseal cupping, Pear-... |
OMIM:602111 |
Exostoses, Multiple, Type Ii |
|
Genu valgum, Coxa vara, Short metacarpal, Chondrosarcoma, Scapular exostoses, Pelvic bone exostos... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Genu valgum, Coxa vara, Short metacarpal, Chondrosarcoma, Scapular exostoses, Pelvic bone exostos... |
OMIM:133700 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Aplasia/Hypoplasia of the thumb, Genu varum, Asymmetric radial dysplasia, A... |
OMIM:171480 |
Arthrogryposis, Distal, Type 2B2 |
|
Short toe, Tapered finger, Ulnar deviation of the wrist, Clinodactyly, Camptodactyly, Hip disloca... |
OMIM:618435 |
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas |
|
Joint swelling, Osteochondroma |
OMIM:127820 |
Pallister-Hall Syndrome |
|
Short 4th metacarpal, Toe syndactyly, Hip dislocation, Overlapping toe, Postaxial hand polydactyl... |
ORPHA:672 |
Acromicric Dysplasia |
|
Short phalanx of finger, Short foot, Short metacarpal, Short long bone, Fifth metacarpal with uln... |
OMIM:102370 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Broad foot, Abnormality of the cervical spine, Finger syndactyly, Short ... |
ORPHA:915 |
Hand-Foot-Genital Syndrome |
|
Sacral dimple, Short first metatarsal, Short 1st metacarpal, Synostosis of carpal bones, Clinodac... |
ORPHA:2438 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Beaking of vertebral bodies, Narrow greater sciatic notch, Mesomelic arm shortening, Lumbar hyper... |
OMIM:609616 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Patellar dislocation, Kyphosis, Clinodactyly of the 5th finger, Hypoplastic ver... |
ORPHA:2916 |
Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Coxa valga, Narrow pelvis bone, Short humerus, Short palm, Short toe, Ac... |
OMIM:250215 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Weaver Syndrome |
|
Coxa valga, Camptodactyly, Metatarsus adductus, Overlapping toe, Pes cavus, Radial deviation of f... |
OMIM:277590 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Severe platyspondyly,... |
OMIM:608940 |
Hand-Foot-Genital Syndrome |
|
Pseudoepiphyses, Short 5th finger, Short first metatarsal, Short 1st metacarpal, Delayed ossifica... |
OMIM:140000 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Patellar dislocation, Tibial torsion, Fused cervical v... |
ORPHA:3320 |
Brachydactyly Type A1 |
|
Short foot, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, Distal symphala... |
ORPHA:93388 |
Kbg Syndrome |
|
Vertebral fusion, Thoracic kyphosis, Cervical ribs, Single transverse palmar crease, Short neck, ... |
ORPHA:2332 |
Gorlin Syndrome |
|
Palmar pits, Vertebral fusion, Arachnodactyly, Plantar pits, Vertebral wedging, Neoplasm, Scolios... |
ORPHA:377 |
Osteoglophonic Dysplasia |
|
Short phalanx of finger, Broad foot, Increased susceptibility to fractures, Short foot, Short met... |
OMIM:166250 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short phalanx of finger, Short foot, Short metacarpal, Small hand, Toe syndactyly, Slender long b... |
OMIM:170390 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Knee flexion contracture, Vertebral fusion, Hip contracture, Cutaneous finger syndactyly, Multipl... |
OMIM:178110 |
Ring Chromosome 21 Syndrome |
|
Small hand, Thoracic hemivertebrae, Clinodactyly, Syndactyly, Narrow palm, Scoliosis, Fused thora... |
ORPHA:1445 |
Larsen Syndrome |
|
Spatulate thumbs, Hip dislocation, Tracheomalacia, Elbow dislocation, Spina bifida occulta, Talip... |
OMIM:150250 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
2-3 toe syndactyly, Clinodactyly of the 4th toe, Lower limb pain, Increased carrying angle, Clino... |
OMIM:261990 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Vertebral segmen... |
ORPHA:1836 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Nemaline bodies, Cervical ... |
OMIM:606842 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Chromosome 2Q37 Deletion Syndrome |
|
Short phalanx of finger, Short toe, Short metacarpal, Eczema, Short metatarsal |
OMIM:600430 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Prominent interdigital folds, Short first metatarsal, Short 1st metacarpal, Short distal phalanx ... |
OMIM:601957 |
Zechi-Ceide Syndrome |
|
Short metatarsal, Short distal phalanx of finger, Long foot, Sandal gap |
OMIM:612916 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Achilles tendon contracture, ... |
OMIM:607155 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Elbow flexion contracture, Hypopl... |
OMIM:305620 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Ectopic ossification in ligament tissue, Spinal rigidity, Clinodactyly of the 5th ... |
ORPHA:337 |
Brachydactyly, Type E1 |
|
Short metacarpal, Brachydactyly, Short clavicles, Short metatarsal, Type E brachydactyly |
OMIM:113300 |
Brachydactyly Type A2 |
|
Short foot, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Type A2 brach... |
ORPHA:93396 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal vertebral segmentation and fusion, Short neck, Scoliosis, Abnormal rib morphology, Conge... |
OMIM:118100 |
Acrocraniofacial Dysostosis |
|
Short first metatarsal, Short 1st metacarpal, Micrognathia, Metatarsus adductus, Abnormality of t... |
OMIM:201050 |
Peripheral Dysostosis |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Hip osteoarthritis |
OMIM:170700 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Short metacarpal, Long hallux, Epiphyseal stippling, Spinal canal stenos... |
OMIM:101800 |
Odontochondrodysplasia 1 |
|
Short phalanx of finger, Flared iliac wing, Genu recurvatum, Mesomelia, Micromelia, Platyspondyly... |
OMIM:184260 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Tolchin-Le Caignec Syndrome |
|
Diastasis recti, Cardiac rhabdomyoma, Micrognathia, Clinodactyly of the 5th finger, Osteochondrom... |
OMIM:618971 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Intervertebral space narrowing, Patellar dislocation, Capitate-hamate fus... |
OMIM:614078 |
Otospondylomegaepiphyseal Dysplasia |
|
Short phalanx of finger, Polyhydramnios, Micrognathia, Short neck, Limb undergrowth, Fibular bowi... |
ORPHA:1427 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Hip subluxation, Elbow flexion contracture, Flat capital femoral epiphysis, Hip dislocation, Slen... |
ORPHA:93360 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
2-3 toe syndactyly, Vertebral fusion, Butterfly vertebrae, Thoracic kyphoscoliosis, Scoliosis, Lu... |
ORPHA:313892 |
Distal Monosomy 10Q |
|
Tapered finger, Micrognathia, Hip dislocation, Facial diplegia, 2-3 toe cutaneous syndactyly, Spi... |
ORPHA:96148 |
Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Abnormal metacarpal morphology, Platyspondyly |
OMIM:269630 |
Lethal Recessive Chondrodysplasia |
|
Polyhydramnios, Short long bone, Flared elbow metaphyses, Micrognathia, Accelerated skeletal matu... |
ORPHA:1423 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Short metacarpal, Short finger, Short neck, Brachydactyly, Short metatarsal, Osteoporo... |
OMIM:103580 |
Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Delayed skeletal maturation, Limited elbow extension, Scapular winging, Talipes equin... |
OMIM:272460 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Short long bone, Lumbar hyperlo... |
OMIM:608728 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of thumb, Short phalanx of finger, Absent thumb, Short thumb, Micrognathia, Radio... |
OMIM:194350 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Absen... |
OMIM:200500 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Polydactyly, Short 4th metacarpal, Cardiac rhabdomyoma, Short distal phalanx of the ... |
OMIM:109400 |
Ritscher-Schinzel Syndrome 3 |
|
Short first metatarsal, Short 1st metacarpal, Shortening of all distal phalanges of the fingers, ... |
OMIM:619135 |
Cri-Du-Chat Syndrome |
|
Diastasis recti, Short metacarpal, High axial triradius, Microretrognathia, Metatarsus adductus, ... |
OMIM:123450 |
Ulnar Hemimelia |
|
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... |
ORPHA:93320 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Patellar hypoplasia, Eczema, Short neck, Brachydactyly, Short fourth metatarsal |
ORPHA:464288 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... |
OMIM:265000 |
Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Short first metatarsal, Micrognathia, Broad hallux, Syndactyly, Broad thumb, Promi... |
OMIM:613684 |
Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Limitation of join... |
OMIM:619598 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Flexion contracture, Micrognathia, Acetabular dysplasia, Nemaline bodies... |
OMIM:616549 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Proximal/middle symphalangism of 5th finger, Toe syndactyly, Fused cervical vertebrae, Broad hall... |
OMIM:184460 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Short phalanx of finger, Flexion contracture, Short 5th metacarpal, Large tarsal bones, Short lon... |
OMIM:215150 |
Shox-Related Short Stature |
|
Genu valgum, Micrognathia, Lower limb undergrowth, Short neck, Ulnar radial head dislocation, Ske... |
ORPHA:314795 |
Sillence Syndrome |
|
Large iliac wing, Camptodactyly, Metatarsus adductus, Abnormal distal phalanx morphology of finge... |
ORPHA:3168 |
Ollier Disease |
|
Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Micromelia, Hemangioma... |
ORPHA:296 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Hip osteoarthritis, Flattened metacarpal heads, Platyspondyly, Osteoa... |
OMIM:271600 |
Smith-Mccort Dysplasia 1 |
|
Short phalanx of finger, Genu varum, Genu valgum, Hypoplastic acetabulae, Metaphyseal irregularit... |
OMIM:607326 |
Li-Fraumeni Syndrome |
|
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... |
ORPHA:524 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short phalanx of finger, Camptodactyly of finger, Broad femoral neck, Irregular vertebral endplat... |
OMIM:612350 |
Arthrogryposis, Distal, Type 3 |
|
Short phalanx of finger, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of th... |
OMIM:114300 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Short phalanx of finger, Short lower limbs, Delayed ossification of carpal bones, Lower limb unde... |
OMIM:127200 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Micrognathia, Dislocated radial head, Radial deviation of finger,... |
OMIM:268310 |
Frontometaphyseal Dysplasia 2 |
|
Patent ductus arteriosus, Decreased muscle mass, Hip contracture, Short metacarpal, Fused cervica... |
OMIM:617137 |
Atelosteogenesis Type Ii |
|
Short phalanx of finger, Polyhydramnios, Ulnar deviation of the hand or of fingers of the hand, M... |
ORPHA:56304 |
Oslam Syndrome |
|
Osteosarcoma, Radioulnar synostosis, Clinodactyly of the 5th finger |
ORPHA:2760 |
Weill-Marchesani Syndrome 2 |
|
Patent ductus arteriosus, Broad phalanges of the hand, Short metacarpal, Elbow flexion contractur... |
OMIM:608328 |
Rare Circulatory System Disease |
|
Abnormality of the knee, Abnormal hand morphology, Abnormality of the elbow, Abnormal finger morp... |
ORPHA:98028 |
Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
Van Maldergem Syndrome 1 |
|
Sacral dimple, Short 4th metacarpal, Cutaneous finger syndactyly, Abnormal foot morphology, Micro... |
OMIM:601390 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Broad foot, Flat glenoid fossa, Short palm, Lumbar hyperlordosis, Metaphyseal irregularity, Genu ... |
OMIM:250420 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Hypoplastic sacrum, Short femoral neck, Short metacarpal, Small hand, Rhizomelia, Clinodactyly, H... |
OMIM:614813 |
Otopalatodigital Syndrome, Type Ii |
|
Delayed closure of the anterior fontanelle, Toe syndactyly, Micrognathia, Elbow contracture, Broa... |
OMIM:304120 |
Zechi-Ceide Syndrome |
|
Short metatarsal, Long foot, Sandal gap, Short distal phalanx of finger |
ORPHA:217017 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Contracture of the p... |
OMIM:609813 |
Pitt-Hopkins Syndrome |
|
Sacral dimple, Tapered finger, Small hand, Clinodactyly, Broad fingertip, Clubbing, Overlapping t... |
OMIM:610954 |
Weismann-Netter Syndrome |
|
Kyphosis, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna,... |
ORPHA:3344 |
Arthrogryposis, Distal, Type 11 |
|
Talipes equinovarus, Camptodactyly, Metatarsus adductus, Absent proximal finger flexion creases, ... |
OMIM:620019 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Rothmund-Thomson Syndrome Type 2 |
|
Short phalanx of finger, Myelodysplasia, Metaphyseal striations, Melanoma, Neoplasm of the skin, ... |
ORPHA:221016 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Hip subluxation, Bilateral camptodactyly, Kyphosis, Overlapping toe, Scoliosis, Short fourth meta... |
OMIM:619557 |
Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Aplasia/hypoplasia of the femur,... |
OMIM:134780 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis |
OMIM:613702 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... |
OMIM:274000 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short neck, Brachydactyly, Short metatarsal, Osteoporosis |
OMIM:612462 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration |
ORPHA:158048 |
Asymmetric Short Stature Syndrome |
|
Fused cervical vertebrae, Micrognathia, Hemihypotrophy of lower limb, Lumbar scoliosis |
OMIM:108450 |
Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Short 4th metacarpal, Short 5th metacarpal, Rhizomelia, Thoracic kyphosis, Pes planus, Femoral bo... |
OMIM:619638 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Micrognathia, Short neck, Abnormal rib morphol... |
ORPHA:2522 |
Gaisböck Syndrome |
|
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... |
ORPHA:90041 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... |
ORPHA:240 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Short phalanx of finger, Micrognathia, Short neck, Postaxial hand polydactyly, Prominent metopic ... |
OMIM:266920 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Shoulder dislocation, Hallux valgus, Generalized joint laxity, Facet joint arthrosis, Micrognathi... |
OMIM:618000 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Delayed cranial suture closure, Hypoplasia of the radius, Ulnar deviation of finger, Micromelia, ... |
ORPHA:2249 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Osteolysis, Fractures of the long bones, Osteosarcoma, Bone pain |
OMIM:167250 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Alkaptonuria |
|
Vertebral fusion, Thickened Achilles tendon, Kyphosis, Arthropathy, Low back pain, Arthritis, Lim... |
OMIM:203500 |
Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Synostosis of carpal ... |
ORPHA:3250 |
Caudal Regression Syndrome |
|
Decreased muscle mass, Talipes equinovarus, Missing ribs, Hypoplastic vertebral bodies, Abnormal ... |
ORPHA:3027 |
Developmental And Epileptic Encephalopathy 95 |
|
Short 4th metacarpal, Multiple joint contractures, Short digit, Clinodactyly of the 5th finger, M... |
OMIM:618143 |
Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Vertebral fusion, Radial club hand, Preaxial hand polydactyly, Finger syndac... |
ORPHA:959 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Arthritis, Skin rash, Abnormal vertebral morphology, Bone pain, Edema, Inflammatio... |
ORPHA:324964 |
Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Van Maldergem Syndrome 2 |
|
Hip subluxation, Sacral dimple, Short 4th metacarpal, Cutaneous syndactyly of toes, Cutaneous fin... |
OMIM:615546 |
Anauxetic Dysplasia 1 |
|
Elbow flexion contracture, Atlantoaxial dislocation, Short neck, Limited elbow extension, Short p... |
OMIM:607095 |
Fibrous Dysplasia Of Bone |
|
Cutaneous myxoma, Osteolysis, Testicular neoplasm, Osteosarcoma, Abnormal rib morphology, Neoplas... |
ORPHA:249 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Flared iliac wing, Synostosis... |
ORPHA:90652 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Flexion contracture, Rhizo-meso-acromelic limb shortening, Short neck, A... |
OMIM:611717 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Missing ribs, Spina bifida occu... |
OMIM:613686 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Heyn-Sproul-Jackson Syndrome |
|
Short phalanx of finger, 11 pairs of ribs, Short metacarpal, Broad phalanx, Broad metacarpals |
OMIM:618724 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Sacroiliac arthritis, Abnormality of the calcaneus, Hip osteoarthritis, Abnormality of the wrist,... |
ORPHA:85438 |
Richieri Costa-Da Silva Syndrome |
|
Genu valgum, Decreased muscle mass, Diastasis recti, Joint dislocation, Generalized bone deminera... |
ORPHA:3101 |
Rothmund-Thomson Syndrome Type 1 |
|
Short phalanx of finger, Myelodysplasia, Metaphyseal striations, Melanoma, Neoplasm of the skin, ... |
ORPHA:221008 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Horizontal ribs, Short 4th metacarpal, Camptodactyly, Broad hallux, Limb undergrowth, Ovoid verte... |
OMIM:618019 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Fused cervical vertebrae, Short neck, Cervical C2/C3 vertebral fusion, Scoliosis |
OMIM:214300 |
Bardet-Biedl Syndrome 17 |
|
Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Brachydactyly, Postaxial hand pol... |
OMIM:615994 |
Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal |
OMIM:112410 |
Diamond-Blackfan Anemia 21 |
|
Short toe, Genu valgum, Preaxial hand polydactyly, Tapered finger, Hallux valgus, Hip dysplasia, ... |
OMIM:620072 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Broad foot... |
OMIM:609441 |
Achondroplasia |
|
Polyhydramnios, Spinal stenosis with reduced interpedicular distance, Severe platyspondyly, Short... |
OMIM:100800 |
Pseudohypoparathyroidism Type 1C |
|
Broad distal phalanx of the thumb, Conjunctivitis, Short 4th metacarpal, Short 5th metacarpal, Sh... |
ORPHA:79444 |
Mesomelia-Synostoses Syndrome |
|
Micrognathia, Abnormality of the wrist, Metatarsal synostosis, Abnormality of the ankle, Genu val... |
ORPHA:2496 |
Otopalatodigital Syndrome, Type I |
|
Delayed closure of the anterior fontanelle, Short 4th metacarpal, Coxa valga, Abnormality of the ... |
OMIM:311300 |
Platyspondylic Dysplasia, Torrance Type |
|
Genu varum, Polyhydramnios, Metaphyseal cupping, Hydrops fetalis, Abnormal carpal morphology, Mic... |
ORPHA:85166 |
Nicolaides-Baraitser Syndrome |
|
Short phalanx of finger, Hallux valgus, Short metacarpal, Eczema, Enlarged joints, Single transve... |
OMIM:601358 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... |
OMIM:276820 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o... |
OMIM:601376 |
Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand |
OMIM:313350 |
Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal muscle atrophy, Hyperlordos... |
OMIM:181405 |
Gorham-Stout Disease |
|
Abnormality of the cervical spine, Osteomyelitis, Abnormal finger morphology, Abnormal bone ossif... |
ORPHA:73 |
Myhre Syndrome |
|
2-3 toe syndactyly, Pericardial effusion, Camptodactyly, Overlapping toe, Radial deviation of fin... |
OMIM:139210 |
Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Broad foot, Advanced ossification of carpal bones, Coxa valga, Hip dislo... |
OMIM:615777 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Missing ribs, Oligohydram... |
OMIM:271520 |
Bruck Syndrome 2 |
|
Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Elbow flexi... |
OMIM:609220 |
Kbg Syndrome |
|
Vertebral fusion, Vertebral arch anomaly, Thoracic kyphosis, Clinodactyly of the 5th finger, Cerv... |
OMIM:148050 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... |
ORPHA:85170 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Achondrogenesis Type 2 |
|
Unossified sacrum, Abnormal bone ossification, Hypoplastic ilia, Short long bone, Delayed vertebr... |
ORPHA:93296 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Polyhydramnios, Micrognathia, Recurrent sinusitis, Overlapping toe, Short neck, Postaxial hand po... |
OMIM:213980 |
Koolen-De Vries Syndrome |
|
Patent ductus arteriosus, Sacral dimple, Vertebral fusion, Kyphosis, Hip dysplasia, Hypotrophy of... |
OMIM:610443 |
Acrodysostosis With Multiple Hormone Resistance |
|
Short phalanx of finger, Short toe, Short metacarpal, Absent/hypoplastic paranasal sinuses, Narro... |
ORPHA:280651 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Lamb-Shaffer Syndrome |
|
Thoracic kyphosis, Hip dysplasia, Micrognathia, Fused cervical vertebrae, Scoliosis |
ORPHA:530983 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Flexion contracture, Devi... |
OMIM:143095 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Broad foot, Toe syndactyly, Hepatoblastoma, Short neck, ... |
ORPHA:373 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly |
ORPHA:1276 |
Trisomy 8P |
|
Sacral dimple, Clinodactyly of the 2nd finger, Metopic suture patent to nasal root, Clinodactyly ... |
ORPHA:264450 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co... |
OMIM:267700 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Short phalanx of finger, Genu valgum, Coxa valga, Epiphyseal dysplasia, Brachydactyly |
OMIM:132450 |
Pseudohypoparathyroidism Type 1A |
|
Broad distal phalanx of the thumb, Conjunctivitis, Short 4th metacarpal, Short 5th metacarpal, Sh... |
ORPHA:79443 |
Pitt-Hopkins Syndrome |
|
Short metatarsal, Tapered finger, Small hand, Broad fingertip, Pes valgus, Single transverse palm... |
ORPHA:2896 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Flexion contracture, Abnormality of the cervical spine, Synovial hypertrophy, Hip... |
ORPHA:85408 |
Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Facial pal... |
OMIM:607323 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Multiple Synostoses Syndrome 1 |
|
2-3 toe syndactyly, Dislocated radial head, Short hallux, Radial deviation of finger, Proximal/mi... |
OMIM:186500 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Fused cervical vertebrae, Skin rash, Stomatitis, Pustule, Osteolysis, Joint swelli... |
OMIM:612852 |
Li-Fraumeni Syndrome |
|
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... |
OMIM:151623 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Metaphyseal irregularity, Genu valgum, Generalized bone demineralization, Knee pain, ... |
OMIM:600785 |
Refsum Disease, Classic |
|
Pes cavus, Short fourth metatarsal, Limb muscle weakness |
OMIM:266500 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Limb undergrowth, Mesomeli... |
OMIM:601356 |
Opsismodysplasia |
|
Short phalanx of finger, Polyhydramnios, Severe platyspondyly, Hypoplastic vertebral bodies, Shor... |
OMIM:258480 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Short neck, Narrow greater sc... |
OMIM:250220 |
Baller-Gerold Syndrome |
|
Lymphoma, Aplasia/Hypoplasia of the thumb, Abnormal carpal morphology, Micrognathia, Abnormal met... |
ORPHA:1225 |
Greenberg Dysplasia |
|
Short phalanx of finger, Polyhydramnios, Absent or minimally ossified vertebral bodies, Tetraphoc... |
OMIM:215140 |
Contractural Arachnodactyly, Congenital |
|
Wrist flexion contracture, Patellar dislocation, Patellar subluxation, Micrognathia, Elbow flexio... |
OMIM:121050 |
Osteogenesis Imperfecta, Type Xviii |
|
Biconcave vertebral bodies, Recurrent fractures, Micrognathia, Joint laxity, Femoral bowing, Join... |
OMIM:617952 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Polyhydramnios, Flexion contracture, Internally nucleated skeletal muscle fibers, Facial diplegia... |
ORPHA:98905 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck, Facial palsy |
ORPHA:3456 |
Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Biconcave vertebral bodies, Vertebral fusion, Decreased muscle mass, Ky... |
OMIM:130720 |
Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, Aplasia/Hypoplasia involving the metacarpal bones, Micro... |
OMIM:157900 |
Focal Dermal Hypoplasia |
|
Short phalanx of finger, Short 4th metacarpal, Toe syndactyly, Spina bifida occulta, Postaxial ha... |
OMIM:305600 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Delayed closure of the anterior fontanelle, Micrognathia, Metacarpal o... |
OMIM:259600 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Triphalangeal thumb, Absent thumb, Limited elbow extension, Abnormal ca... |
OMIM:142900 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Hip dislocation, Scoliosis, Joint hype... |
ORPHA:96169 |
Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Polyhydramnios, Hypoplastic ilia, Kyphosis, Micromelia, Short femur, Fe... |
ORPHA:1860 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Distal foot symphalangism, Short phalanx of finger, Absent trapezoid bone, Absent trapezium, Apla... |
OMIM:606895 |
Shashi-Pena Syndrome |
|
Patent ductus arteriosus, Kyphosis, Limb hypertonia, Short metacarpal, Accelerated skeletal matur... |
OMIM:617190 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... |
ORPHA:85167 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Osteogenesis Imperfecta, Type Xiv |
|
Increased susceptibility to fractures, Recurrent fractures, Femoral bowing, Osteopenia, Scoliosis |
OMIM:615066 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Trapezoidal distal femoral condyles, Metaphyseal irregularity, Genu... |
OMIM:307800 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Camptodactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Metatars... |
OMIM:227330 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Clinodactyly... |
ORPHA:1724 |
Refractory Celiac Disease |
|
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:398063 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Camptodactyly, Short neck, Widely patent coronal suture, Narrow greate... |
OMIM:228520 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Hypoplastic iliac wing, Short sternum, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Microgn... |
OMIM:601559 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Short metacarpal, Radial bowing, Micrognathia, Flat acetabular roof, Ulnar ... |
OMIM:211350 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Short phalanx of finger, Small hand, Perianal abscess, Pericardial effusion, Clinodactyly, Broad ... |
OMIM:614684 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... |
ORPHA:247585 |
Duane Retraction Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Hypoplasia of th... |
ORPHA:233 |
Yunis-Varon Syndrome |
|
Short 2nd finger, Absent thumb, Polyhydramnios, Tapered finger, Tapered toe, Toe syndactyly, Micr... |
OMIM:216340 |
Aicardi Syndrome |
|
Bifid ribs, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Hemangioma, C... |
OMIM:304050 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Short 5th finger, Micrognathia, Hip dislocation, Overlapping toe, Broad hallu... |
ORPHA:508498 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Gonadoblastoma, Short 4th metacarpal, Hallux valgus, Micrognathia, Recurrent otitis media, Muscle... |
ORPHA:1772 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lumbar vertebrae, Hydrops fetalis, Lymphedema, Hepatitis, Epiphyseal stipplin... |
ORPHA:584 |
Lethal Kniest-Like Dysplasia |
|
Polyhydramnios, Abnormality of the ischium, Hypoplastic ilia, Anterior rib cupping, Short ribs, M... |
ORPHA:2347 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Peters-Plus Syndrome |
|
Polyhydramnios, Broad foot, Micrognathia, Pes cavus, Short neck, Square pelvis bone, Short palm, ... |
OMIM:261540 |
Geroderma Osteodysplasticum |
|
Increased susceptibility to fractures, Biconcave vertebral bodies, Irregular vertebral endplates,... |
OMIM:231070 |
Achondrogenesis, Type Ii |
|
Hypoplastic iliac wing, Polyhydramnios, Horizontal ribs, Hydrops fetalis, Short tubular bones of ... |
OMIM:200610 |
Sifrim-Hitz-Weiss Syndrome |
|
Patent ductus arteriosus, Tapered finger, Short femoral neck, Fused cervical vertebrae, Flat acet... |
OMIM:617159 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short phalanx of finger, Hip subluxation, Progressive calcification of costochondral cartilage, M... |
OMIM:271665 |
Diamond-Blackfan Anemia 1 |
|
Triphalangeal thumb, Delayed cranial suture closure, Absent thumb, 11 pairs of ribs, Hypoplastic ... |
OMIM:105650 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short 1st metacarpal, Hypoplasia of the radius, Fused cervical vertebrae, Short nec... |
OMIM:609053 |
Sapho Syndrome |
|
Acne, Osteomyelitis, Recurrent fractures, Enthesitis, Arthritis, Skin rash, Synovitis, Bone pain,... |
ORPHA:793 |
Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Short metacarpal, Femoral retroversion, Kyphosis, Radial bowing, Slender lon... |
OMIM:610915 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Polyhydramnios, Broad foot, Tapered finger, Micrognathia, Slender finger, Aplasia of the right he... |
OMIM:619841 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
Pachydermoperiostosis |
|
Genu varum, Avascular necrosis, Osteomyelitis, Small hand, Arthritis, Clubbing of toes, Bone pain... |
ORPHA:2796 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short phalanx of finger, Polyhydramnios, Severe platyspondyly, Micrognathia, Elbow flexion contra... |
ORPHA:508533 |
Wiedemann-Steiner Syndrome |
|
Patent ductus arteriosus, Short phalanx of finger, 2-3 toe syndactyly, Short toe, Short 5th finge... |
OMIM:605130 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sacral dimple, Polyhydramnios, Short metacarpal, Eczema, Short neck, Short distal phalanx of fing... |
OMIM:617157 |
Apert Syndrome |
|
Delayed cranial suture closure, Humeroradial synostosis, Postaxial hand polydactyly, Lambdoidal c... |
OMIM:101200 |
Aicardi Syndrome |
|
Bifid ribs, Multiple lipomas, Small hand, Block vertebrae, Hip dysplasia, Supernumerary ribs, Mis... |
ORPHA:50 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Hip dislocation, Metatarsus adductus, Short hallux, Abnormal sternal ossification, ... |
OMIM:194190 |
Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Bone pain, Femoral bowing, Short femur, Osteosclerosis of ... |
OMIM:602080 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat... |
OMIM:603553 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Increased bone mineral density, Cortical thickening of long bone diaphyses, ... |
OMIM:166740 |
Martsolf Syndrome 1 |
|
Short phalanx of finger, Short toe, Broad femoral neck, Talipes valgus, Avascular necrosis of the... |
OMIM:212720 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Coxa valga, Hallux v... |
OMIM:271640 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Femoral bowing, Osteopenia, Scoliosis, Platyspondyly, Osteoporosis |
OMIM:126550 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Short 5th finger, Micrognathia, Hip disloc... |
OMIM:268305 |
Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Hydrops fetalis, Stiff neck, Short long bone, Mic... |
OMIM:617022 |
Rothmund-Thomson Syndrome, Type 2 |
|
Short foot, Small hand, Forearm reduction defects, Micrognathia, Squamous cell carcinoma, Basal c... |
OMIM:268400 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Polyhydramnios, Horizont... |
ORPHA:1505 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Vertebral fusion, Vertebral hypoplasia, Supernumerary ribs, Missing rib... |
OMIM:206900 |
Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:90362 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Codas Syndrome |
|
Short phalanx of finger, Polyhydramnios, Genu valgum, Absent epiphyses, Short metacarpal, Lumbar ... |
OMIM:600373 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:3109 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... |
ORPHA:26793 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Cone-shaped epiphysis, Short long bone, Short ribs, Absent tibia, Short digit, T... |
OMIM:613091 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
Campomelic Dysplasia |
|
Short phalanx of finger, Polyhydramnios, Hallux valgus, Micrognathia, Hip dislocation, Tracheomal... |
OMIM:114290 |
Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Pseudoepiphyses, Fused cervical vertebrae, Carpal synostosis, Recu... |
OMIM:157800 |
Townes-Brocks Syndrome 1 |
|
Triphalangeal thumb, 2-3 toe syndactyly, Preaxial hand polydactyly, Aplasia/Hypoplasia of the 3rd... |
OMIM:107480 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol... |
ORPHA:1106 |
Robinow Syndrome |
|
Bifid distal phalanx of the thumb, Radioulnar dislocation, Micrognathia, Missing ribs, Syndactyly... |
ORPHA:97360 |
Atypical Werner Syndrome |
|
Osteolytic defects of the phalanges of the hand, Calf muscle hypertrophy, Micrognathia, Increased... |
ORPHA:79474 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Vertebral segmentation defect... |
ORPHA:87 |
Premature Aging Syndrome, Okamoto Type |
|
Osteosarcoma, Neoplasm, Osteoporosis |
OMIM:601811 |
Osteogenesis Imperfecta, Type Iv |
|
Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Recurrent fract... |
OMIM:166220 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Short phalanx of finger, Short toe, Periodontitis, Clinodactyly of the 5th finger, Cone-shaped ep... |
OMIM:619269 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Areflexia of upper limbs, Anteriorly placed odontoid proces... |
ORPHA:268882 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Short toe, Tracheobronchomalacia, Tapered finger, Micrognathia, Camptodactyly, Hip... |
OMIM:613458 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Cervical C2/C3 vertebral fusion, Lumbar scoliosis, Lumbar hyperlordosis |
OMIM:617796 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Blackfan-Diamond Anemia |
|
Triphalangeal thumb, Acute myeloid leukemia, Absent thumb, Abnormality of the upper limb, Abnorma... |
ORPHA:124 |
Frank-Ter Haar Syndrome |
|
Short phalanx of finger, Delayed cranial suture closure, Kyphosis, Short long bone, Hip dysplasia... |
OMIM:249420 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Chops Syndrome |
|
Patent ductus arteriosus, Aspiration pneumonia, Brachydactyly, Tracheomalacia, Cervical C2/C3 ver... |
OMIM:616368 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Short phalanx of finger, Acute myelomonocytic leukemia, Multiple joint contractures, Short neck, ... |
ORPHA:99646 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Horizontal ribs, Short... |
OMIM:208500 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short phalanx of finger, Short metacarpal, Trapezoidal vertebral body, Brachydactyly, Micromelia |
OMIM:600092 |
Werner Syndrome |
|
Low back pain, Meningioma, Osteosarcoma, Osteoporosis, Reduced bone mineral density |
OMIM:277700 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
Osteogenesis Imperfecta, Type I |
|
Increased susceptibility to fractures, Recurrent fractures, Femoral bowing, Joint hypermobility, ... |
OMIM:166200 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Spina bifida occulta, Fused cervical vertebrae, Butterfly vertebrae |
OMIM:619227 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short phalanx of finger, Short toe, Blepharochalasis, Delayed closure of the anterior fontanelle,... |
OMIM:225410 |
Papilloma Of Choroid Plexus |
|
Osteosarcoma, Choroid plexus papilloma |
OMIM:260500 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coronal craniosynostosis, Fused cervical vertebrae, Micrognathia, Eczema, Overlapping toe, Superf... |
ORPHA:83617 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
|
Short phalanx of finger, Short metacarpal, Abnormal pelvic girdle bone morphology, Increased skul... |
ORPHA:1422 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short phalanx of finger, Delayed cranial suture closure, Flexion contracture, Acroosteolysis of d... |
OMIM:608612 |
Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Hemivertebrae, Short neck, Cervical C2/C3 vertebral fusion |
ORPHA:1780 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia |
ORPHA:167 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Patent ductus arteriosus, Hip subluxation, Cervical C2/C3 vertebral fusion, Aspiration pneumonia,... |
ORPHA:444077 |
Heterotaxy, Visceral, 1, X-Linked |
|
Patent ductus arteriosus, Polyhydramnios, Block vertebrae, Absence of the sacrum, Short long bone... |
OMIM:306955 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Patent ductus arteriosus, Short phalanx of finger, Sacral dimple, Kyphosis, Micrognathia, Clinoda... |
OMIM:616894 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short phalanx of finger, Broad finger, Abnormal hand morphology, Small hand |
OMIM:300845 |
Saethre-Chotzen Syndrome |
|
Delayed cranial suture closure, Breast carcinoma, Hallux valgus, Partial duplication of the dista... |
OMIM:101400 |
Arteriosclerosis, Severe Juvenile |
|
Short phalanx of finger, Hip dysplasia, Dysplasia of second lumbar vertebra |
OMIM:208060 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leiomyosarcoma, Melanoma, Ewing sarcoma, Uveitis, Pineoblastoma, Osteos... |
ORPHA:790 |
Chand Syndrome |
|
Short fifth metatarsal |
ORPHA:1401 |
Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Hypoplastic iliac wing, Absent thumb, Flexion contracture, Short metacar... |
OMIM:263650 |
Generalized Arterial Calcification Of Infancy |
|
Polyhydramnios, Abnormality of the knee, Hydrops fetalis, Stippled calcification of the shoulder,... |
ORPHA:51608 |
Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
Liver Disease, Severe Congenital |
|
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated circulating al... |
OMIM:619991 |
Rhombencephalosynapsis |
|
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, M... |
ORPHA:59315 |
Craniofacial Microsomia |
|
Patent ductus arteriosus, Genu valgum, Vertebral hypoplasia, Block vertebrae, Hypoplasia of facia... |
OMIM:164210 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Elsahy-Waters Syndrome |
|
Brachydactyly, Shortening of all phalanges of fingers, Cervical C2/C3 vertebral fusion, Cutaneous... |
OMIM:211380 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Pinealoma, Ewing sarcoma, Osteosarcoma, Leukemia |
OMIM:180200 |
Osteogenic Sarcoma |
|
Osteosarcoma, Retinoblastoma |
OMIM:259500 |
Genitopatellar Syndrome |
|
Short phalanx of finger, Knee flexion contracture, Polyhydramnios, Hip contracture, Patellar apla... |
OMIM:606170 |
Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger |
OMIM:302350 |
Craniosynostosis And Dental Anomalies |
|
Short phalanx of finger, 2-3 toe syndactyly, Sagittal craniosynostosis, Hallux valgus, Coronal cr... |
OMIM:614188 |
Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
Pallister-Killian Syndrome |
|
Short phalanx of finger, Polyhydramnios, Delayed cranial suture closure, Flexion contracture, Bro... |
OMIM:601803 |