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 |
|
Narrow femoral neck, Osteochondroma, Short metacarpal, Flat capital femoral epiphysis, Short toe,... |
OMIM:609162 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Short palm, ... |
ORPHA:93351 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Metachondromatosis |
|
Bone pain, Multiple enchondromatosis, Abnormal epiphysis morphology, Abnormal metaphysis morpholo... |
ORPHA:2499 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Osteochondroma, Hip contracture, B-cell lymphoma, Ankle flexion contracture, Reduced bone mineral... |
OMIM:620232 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Talipes, Abnormality of the vertebr... |
ORPHA:1856 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Accelerated skeletal maturation, Micrognathia, Abnormal hand morphology, Metap... |
ORPHA:93307 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
Brachydactyly Type E |
|
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... |
ORPHA:93387 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Smith-Mccort Dysplasia 2 |
|
Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Br... |
OMIM:615222 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh... |
OMIM:180870 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Osteochondroma, Arachnodactyly, Increased vertebral height, Scoliosis, Camptodactyly, Camptodacty... |
OMIM:610474 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint stiffness, Avas... |
OMIM:132400 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, General... |
ORPHA:85198 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Delayed skelet... |
OMIM:190351 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2... |
OMIM:123150 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... |
ORPHA:370010 |
Metachondromatosis |
|
Abnormal joint morphology, Bowing of the long bones, Multiple digital exostoses, Multiple enchond... |
OMIM:156250 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... |
OMIM:619636 |
Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Pes planus, Coxa valga, Centrally nucleated skeletal m... |
OMIM:248800 |
Adams-Oliver Syndrome 3 |
|
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... |
OMIM:614814 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vert... |
OMIM:108720 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Patent ductus arteriosus, Short long bone, Vertebral segmentatio... |
OMIM:618845 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... |
ORPHA:1278 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Short third metatarsal, Hand muscle atrophy, Thoracic scoliosis, Distal lower limb amyotrophy, Ca... |
ORPHA:324442 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Edema, Polyh... |
OMIM:312150 |
Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Pes planus, Short metacarpal, Broad hallux, Accelerated skeletal maturation, Microg... |
ORPHA:439822 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... |
OMIM:606612 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Edema, Polyh... |
OMIM:253290 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ... |
OMIM:616723 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Spinal canal stenosis,... |
OMIM:614613 |
Satoyoshi Syndrome |
|
Pes planus, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, ... |
OMIM:600705 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Long fibula, Short palm, Genu ... |
ORPHA:2502 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... |
ORPHA:337 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H... |
ORPHA:93315 |
Jackson-Weiss Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... |
ORPHA:1540 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... |
OMIM:618150 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Polyhydra... |
OMIM:600383 |
Thiemann Disease |
|
Avascular necrosis, Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ... |
ORPHA:79445 |
Cohen Syndrome |
|
Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Facial hypotonia, Single ... |
OMIM:216550 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Pes planus, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Sw... |
OMIM:190350 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor... |
ORPHA:77258 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Chronic gastritis, Single transverse palmar crease, Micrognathia, Rib exostoses, Clin... |
OMIM:150230 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Brachydactyly |
OMIM:612463 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Short neck, Abnormal sacrum morphology, Abnormal rib morphology,... |
ORPHA:2345 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Pneumonia, Short neck, Short metatarsal, Cone-shaped epiphysis, Art... |
OMIM:613328 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt... |
OMIM:615170 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
Oslam Syndrome |
|
Radioulnar synostosis, Neoplasm, Radial deviation of finger, Clinodactyly, Osteosarcoma |
OMIM:165660 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... |
OMIM:244600 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:613382 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Flattened metatarsal heads, Arthropathy, Generalized morning stiffness, Coxa vara, Arthritis, Con... |
OMIM:208250 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Neoplasm of the skeletal system, Neoplasm of head and neck, Abno... |
ORPHA:352540 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyse... |
OMIM:112250 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Posterior rib fusion, S... |
OMIM:122600 |
Dysplasia Epiphysealis Hemimelica |
|
Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff... |
ORPHA:1822 |
Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, Abno... |
ORPHA:66637 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Short metacarpal, Multiple exostoses, Pelvic bone exostoses, Protuberances at end... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Short metacarpal, Multiple exostoses, Pelvic bone exostoses, Protuberances at end... |
OMIM:133700 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Arthrogryposis, Distal, Type 2B2 |
|
Broad hallux, Sandal gap, Ulnar deviation of the wrist, Tapered finger, Metatarsus adductus, Tali... |
OMIM:618435 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Midline facial capillary ... |
ORPHA:672 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... |
OMIM:171480 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Accelerated skeletal maturation, Calcan... |
OMIM:277590 |
Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Delayed skeletal maturation, Cone-shaped epiphysis, Sho... |
OMIM:102370 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Sacral dimple, Short hallux, Proximal placemen... |
ORPHA:2438 |
Aarskog-Scott Syndrome |
|
Finger syndactyly, Pes planus, Genu recurvatum, Camptodactyly of finger, Talipes, Short neck, Sin... |
ORPHA:915 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Elbow dislocation, Kyphosis, Postaxial hand po... |
ORPHA:2916 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... |
OMIM:608940 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Scoliosis, Thoracic hemivertebrae,... |
ORPHA:1445 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Short fourth metatarsal, Short fifth metatarsal, Joint hypermobility, Lower limb pain, 2-3 toe sy... |
OMIM:261990 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Short nec... |
ORPHA:2332 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... |
OMIM:150250 |
Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Palmar pits, Plantar pits, Hemivertebrae, Vertebral wedging, Ne... |
ORPHA:377 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Tarsal synostosis, Elbow contracture, Multiple pterygia, Short... |
OMIM:178110 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Short metacarpal, Toe syndactyly, Scapular winging, Micrognathia, Delayed skeletal ... |
OMIM:170390 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... |
ORPHA:1836 |
Osteoglophonic Dysplasia |
|
Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B... |
OMIM:166250 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Single transverse palmar crease, Short first metatarsal, Prominent interdigital folds, Short dist... |
OMIM:601957 |
Zechi-Ceide Syndrome |
|
Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger |
OMIM:612916 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, B... |
ORPHA:313892 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle... |
OMIM:607155 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture... |
OMIM:305620 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly |
OMIM:113300 |
Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Cl... |
ORPHA:96148 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Accelerated skeletal maturation, Neonatal epiphyseal stippling, ... |
OMIM:101800 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... |
OMIM:184260 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
Tolchin-Le Caignec Syndrome |
|
Osteochondroma, Arachnodactyly, Diastasis recti, Micrognathia, Cardiac rhabdomyoma, Clinodactyly ... |
OMIM:618971 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Polyhydramnios, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing mo... |
ORPHA:1427 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Recurrent patellar dislocation, Micrognathia, Capitate-hamate fusion, Short toe... |
OMIM:614078 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short neck, Short toe, Short metatarsal, Osteoporosis, Subcutaneous ossificatio... |
OMIM:103580 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... |
OMIM:194350 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Accelerated skeletal maturation, Polyhydramnios, Generalized osteosclerosis, Edema, M... |
ORPHA:1423 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Eczema, Short neck, Patellar hypoplasia, Brachydactyly |
ORPHA:464288 |
Basal Cell Nevus Syndrome 1 |
|
Rhabdomyoma, Palmar pits, Plantar pits, Hemivertebrae, Cardiac fibroma, Vertebral fusion, Odontog... |
OMIM:109400 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Diastasis recti, Single transverse p... |
OMIM:123450 |
Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Micrognathia, Short first metatarsal, Short 5th toe, Prominent fingerti... |
OMIM:613684 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Short neck, Hip dislocation, Hemivertebrae, Short 5th finger, Sco... |
OMIM:615583 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... |
OMIM:608728 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Micrognathia, Ulnar bowing, Shortening of all distal phalanges of the fin... |
OMIM:619135 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... |
OMIM:265000 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Enlarged joints, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Fl... |
OMIM:215150 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Myopathy, Cervical C2/C3 ... |
OMIM:616549 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Shox-Related Short Stature |
|
Short neck, Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Skeletal mu... |
ORPHA:314795 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Eczema, Short toe, Short phalanx of finger, Type E bra... |
OMIM:600430 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... |
OMIM:271600 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Pes planus, Camptodactyly of finger, Kyphoscoliosis, ... |
OMIM:612350 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Congenital hip dislocation, Single transverse palmar crease, Short neck, M... |
OMIM:114300 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... |
OMIM:617137 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Delayed skeletal maturation, Patent duct... |
OMIM:608328 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Polyhydramnios, Micrognathia, Tracheobronchomalacia, S... |
ORPHA:56304 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
Oslam Syndrome |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Osteosarcoma |
ORPHA:2760 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Sacral dimple, Tracheoma... |
OMIM:601390 |
Ollier Disease |
|
Chondrosarcoma, Micromelia, Joint stiffness, Visceral angiomatosis, Bone pain, Osteolysis, Multip... |
ORPHA:296 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short metatarsal, Sm... |
OMIM:614813 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Tibial... |
OMIM:304120 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... |
OMIM:619557 |
Zechi-Ceide Syndrome |
|
Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger |
ORPHA:217017 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Pitt-Hopkins Syndrome |
|
Pes planus, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Sacral dimple, Sing... |
OMIM:610954 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Facial edema, Patellar hypoplasia, Squamous cell carcinoma, Short ... |
ORPHA:221016 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Facial capillary hemangioma, Edema of the dorsum of hands, Micrognat... |
OMIM:274000 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short neck, Short metatarsal, Osteoporosis, Brachydactyly |
OMIM:612462 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Cholangitis, Edema, Short neck, Micrognathia, Short metatarsal, Clinodactyly of the 5... |
OMIM:266920 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Micrognathia, Abnormal rib morphology, Fused cervical verteb... |
ORPHA:2522 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspondyly, Thoracic kyph... |
OMIM:619638 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Osteopenia, Thoracic scoliosis, Pes planus, Short neck, Micrognathia, Osteoarthrit... |
OMIM:618000 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Short digit, Short fourth metatarsal, Multiple joint contractures, Single transvers... |
OMIM:618143 |
Caudal Regression Syndrome |
|
Decreased muscle mass, Joint stiffness, Missing ribs, Abnormal iliac wing morphology, Aplasia/Hyp... |
ORPHA:3027 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Bone pain, Osteolysis, Osteosarcoma |
OMIM:167250 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad... |
ORPHA:2249 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... |
OMIM:203500 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Ulnar deviation of the hand, Wide cranial sutu... |
OMIM:615546 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... |
ORPHA:3250 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Psoriasiform dermatitis, Acne, Skin rash, Edema, Abnormal sacroiliac joint morphol... |
ORPHA:324964 |
Anauxetic Dysplasia 1 |
|
Short neck, Thoracic kyphosis, Short palm, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short ... |
OMIM:607095 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... |
OMIM:613686 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... |
OMIM:611717 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Campto... |
ORPHA:90652 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Ne... |
ORPHA:249 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Richieri Costa-Da Silva Syndrome |
|
Joint dislocation, Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Metatarsus... |
ORPHA:3101 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 v... |
OMIM:118100 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor... |
ORPHA:85438 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S... |
OMIM:620072 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Facial edema, Patellar hypoplasia, Squamous cell carcinoma, Short phalanx of finger, ... |
ORPHA:221008 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Short neck,... |
ORPHA:79444 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Achondroplasia |
|
Limited hip extension, Polyhydramnios, Bowing of the legs, Generalized joint laxity, Femoral bowi... |
OMIM:100800 |
Nicolaides-Baraitser Syndrome |
|
Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Eczema, Single transverse... |
OMIM:601358 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... |
ORPHA:2496 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... |
OMIM:276820 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Knee dislocation, Short phalan... |
OMIM:615777 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Abnormal carpal morph... |
ORPHA:85166 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Pericardial effusion, Short toe... |
OMIM:139210 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Short neck, Micrognathia, Hemivertebrae,... |
OMIM:213980 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Eczema, Kyphosis, Patent ductus arterio... |
OMIM:610443 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... |
OMIM:271520 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Increased susceptibil... |
OMIM:609220 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Delayed skeletal matur... |
OMIM:148050 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Edema, Hypoplas... |
ORPHA:93296 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
Pitt-Hopkins Syndrome |
|
Pes planus, Single transverse palmar crease, Tapered finger, Short neck, Broad fingertip, Small h... |
ORPHA:2896 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Gorham-Stout Disease |
|
Osteopenia, Torticollis, Abnormal pelvis bone morphology, Osteomyelitis, Hemangiomatosis, Edema, ... |
ORPHA:73 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Short neck,... |
ORPHA:79443 |
Lamb-Shaffer Syndrome |
|
Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Trisomy 8P |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Multiple joint contractures, Cl... |
ORPHA:264450 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Accelerated skeletal mat... |
ORPHA:373 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper limb muscle hypoplasia, Sp... |
OMIM:607323 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Skin rash, Pustule, Osteolysis, Fused cervical vertebrae, Joint swelli... |
OMIM:612852 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Multiple prenatal fractures, Polyhydramnios, Patchy variation in bone mi... |
OMIM:215140 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Abnormality of the cervical spine, Ankle swelling,... |
ORPHA:85408 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondy... |
OMIM:601356 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Pes cavus, Limb muscle weakness |
OMIM:266500 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, F... |
OMIM:617952 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... |
OMIM:600785 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Pes planus, Short neck, Micrognathia, Split hand, Congenital fibrosis ... |
OMIM:157900 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Opsismodysplasia |
|
Edema, Short neck, Polyhydramnios, Hypoplastic vertebral bodies, Short palm, Short phalanx of fin... |
OMIM:258480 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mic... |
ORPHA:1225 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Short neck, Micrognathia, Knee flexion contracture, Wrist flexion contracture, Arachn... |
OMIM:121050 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Edema, Polyhydramnios, Flex... |
ORPHA:98905 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... |
OMIM:305600 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Short neck, Micrognathia, Kyphosis, Patent ductus arteri... |
OMIM:130720 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Facial palsy, Short neck |
ORPHA:3456 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
Shashi-Pena Syndrome |
|
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Patent ductus arteriosus, Osteoporos... |
OMIM:617190 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen... |
OMIM:142900 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral se... |
ORPHA:96169 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce... |
ORPHA:1724 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Hyperextensible hand j... |
OMIM:227330 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis |
OMIM:615066 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Bone pain, Spinal... |
OMIM:307800 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... |
OMIM:620076 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Short neck, Micrognathia, Tibial bowing, Femora... |
OMIM:601559 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Perianal abscess, Pericardial effusion, Small hand, Broad finger, Clinodactyly, Short phalanx of ... |
OMIM:614684 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Anterior ... |
OMIM:211350 |
Fibrochondrogenesis 1 |
|
Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi... |
OMIM:228520 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Polyhydramnios, Micrognathi... |
OMIM:216340 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Short neck, Absent radius, Preaxial han... |
ORPHA:233 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Thoracic kyphosis, Hyperm... |
ORPHA:508498 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... |
OMIM:231070 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hallux valgus, Micrognathia, Cervix cancer, Delayed skeletal maturation, Short metatarsal, Gonado... |
ORPHA:1772 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Recurrent pneumonia, Hemivertebrae, R... |
OMIM:304050 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Joint stiffness, L... |
ORPHA:584 |
Peters-Plus Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Limited elbow movement, Short neck,... |
OMIM:261540 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Edema, Short tubular b... |
OMIM:200610 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Edema, Mesomelic/rhizomelic ... |
ORPHA:2347 |
Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Patent ductus arteriosus, Flat acetabular roof, Fused cervical vertebrae, Short f... |
OMIM:617159 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Micrognathia, Triangular shaped distal phalanges of t... |
OMIM:271665 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Polyhydramnios, Increased intervertebral space, Thoracolumbar kyphosis, M... |
ORPHA:508533 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Polyhydramnios, Micrognathia, Aplasia o... |
OMIM:619841 |
Fanconi Anemia, Complementation Group I |
|
Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ... |
OMIM:609053 |
Wiedemann-Steiner Syndrome |
|
Joint laxity, Pes planus, Sacral dimple, Tapered finger, Accelerated skeletal maturation, Contrac... |
OMIM:605130 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Pachydermoperiostosis |
|
Osteomyelitis, Acne, Edema, Seborrheic dermatitis, Limitation of joint mobility, Bone pain, Small... |
ORPHA:2796 |
Sapho Syndrome |
|
Osteomyelitis, Psoriasiform dermatitis, Recurrent fractures, Acne, Skin rash, Pustule, Abnormal s... |
ORPHA:793 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Myelodysplasia, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplicatio... |
OMIM:105650 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Chronic oti... |
OMIM:101200 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Sacral dimple, Eczema, Polyhydramnios, Short neck, Short metatarsal, Cubitus va... |
OMIM:617157 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Single transverse palmar crease, Micrognathia, Abnormal form of the verteb... |
OMIM:194190 |
Martsolf Syndrome 1 |
|
Joint laxity, Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Micrognathi... |
OMIM:212720 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis |
OMIM:126550 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Small hand, Rib fusion, Multiple lipomas, Hip dysplasia, Supernume... |
ORPHA:50 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Torticollis, Short neck, Micrognathia, Increased variability in m... |
OMIM:617022 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Acne, Inflammatory abnormality of the skin, Edema,... |
ORPHA:77297 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Patent ductus arteriosus, Hemivertebrae, Rib fusion, Supernumerar... |
OMIM:206900 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Kyphoscoliosis, Micrognathia, Short thumb, Small hand, Osteoporosis, ... |
OMIM:268400 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... |
OMIM:600373 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Metaphysea... |
OMIM:613091 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Polyhydramnios, Micrognathia, Dela... |
OMIM:114290 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Edema, Micrognathia, Arthrogryposis multi... |
OMIM:253310 |
Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Talipes, Preaxia... |
OMIM:107480 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal maturation, Ri... |
OMIM:157800 |
Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Bifid distal phalanx of the ... |
ORPHA:97360 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... |
ORPHA:87 |
Premature Aging Syndrome, Okamoto Type |
|
Neoplasm, Osteoporosis, Osteosarcoma |
OMIM:601811 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Skeletal muscle atrophy, Micrognathia, Reduced bone mineral density, Fing... |
ORPHA:79474 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... |
ORPHA:93357 |
Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibility to fractur... |
OMIM:166220 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Scapular winging, Lumbar hyperlordosis, Lumbar scoliosis |
OMIM:617796 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Periodo... |
OMIM:619269 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... |
ORPHA:50945 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Abnormality of the musculature of the lower limbs, Areflexia of upper limbs, Fused ce... |
ORPHA:268882 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Short... |
OMIM:613458 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Femoral bowing, Increased suscept... |
OMIM:166200 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Acne, Anterior concavity of thoracic vertebrae, Kyphoscolio... |
OMIM:249420 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Nonimmune hydrops fetalis, Myelodysplasia, Short neck, Absent thumb, Shor... |
ORPHA:124 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Werner Syndrome |
|
Low back pain, Osteoporosis, Reduced bone mineral density, Meningioma, Osteosarcoma |
OMIM:277700 |
Chops Syndrome |
|
Patent ductus arteriosus, Aspiration pneumonia, Tracheomalacia, Cervical C2/C3 vertebral fusion, ... |
OMIM:616368 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Horizontal ribs, Early ossification of capital femoral epiphyses, Cone-sh... |
OMIM:208500 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Micromelia, Trapezoidal vertebral body, Short phalanx of finger, Brachydactyly |
OMIM:600092 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met... |
ORPHA:99646 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae |
OMIM:619227 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Delayed closure of the anterior fontanelle, Micrognathia, Short toe, Bl... |
OMIM:225410 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Superficial dermal perivascular inflammatory infiltrate, Overlapping toe, Arachnodactyly, Eczema,... |
ORPHA:83617 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Osteosarcoma |
OMIM:260500 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Micrognathia, Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of t... |
OMIM:608612 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Micrognathia, Patent ductus arteriosus, Small hand, Fibular hypoplasia, Hypoplasia... |
ORPHA:444077 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Congenital diaphragmatic hernia, Short neck |
ORPHA:1780 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Polyhydramnios, Patent ductus... |
OMIM:306955 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Short neck, Micrognathia, Kyphosis, Patent ductus arteriosus, Mesomeli... |
OMIM:616894 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger |
OMIM:208060 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Uveitis, Leiomyosarcoma, Melanoma, Retinoblast... |
ORPHA:790 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
Chand Syndrome |
|
Short fifth metatarsal |
ORPHA:1401 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Osteomalacia, Edema, Polyhydramnios, Pericardial effusion, Hydrops fetal... |
ORPHA:51608 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Abnormal hand morphology, Short phalanx of finger, Broad finger, Small hand |
OMIM:300845 |
Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, Short p... |
ORPHA:59315 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Hypoplasia of facial musculature, Micrognathia, Partial duplication of thumb pha... |
OMIM:164210 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Cutaneous finger syndactyly, Shortening of all phalanges of fing... |
OMIM:211380 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Genitopatellar Syndrome |
|
Hip contracture, Congenital hip dislocation, Polyhydramnios, Micrognathia, Patellar aplasia, Infe... |
OMIM:606170 |
Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger |
OMIM:302350 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Prominent metopic ridge, Broad hallux, Sagittal craniosynostosis, 2-3 toe syndacty... |
OMIM:614188 |
Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Congeni... |
OMIM:601803 |