Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Multicentric femoral head ossification, Flattened femoral head, Leukocytosis, Lower limb pain, Co... |
ORPHA:168621 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd meta... |
OMIM:118651 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... |
ORPHA:93323 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bone pain, Hepatomegaly, Splenomegaly, Osteopenia, Hypocholesterolemia, Hypersplenism, Anemia, Th... |
OMIM:610539 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... |
OMIM:601376 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Abnormal form of the ve... |
ORPHA:1802 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... |
OMIM:113000 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Acromesomelic Dysplasia 2A |
|
Stillbirth, Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humeru... |
OMIM:200700 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... |
ORPHA:93315 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Micrognathia, Broad ulna, Short ti... |
OMIM:249700 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... |
ORPHA:2098 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... |
ORPHA:90650 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Syndactyly, Po... |
OMIM:615631 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplastic left heart, Hypoplasia of the radius, Radial club hand, Short tibi... |
ORPHA:1972 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
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Metaphyseal dysplasia, Flared metaphysis, Platyspondyly, Short middle phalanx of the 2nd finger, ... |
OMIM:156510 |
Dextrocardia With Unusual Facies And Microphthalmia |
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Vertebral segmentation defect, Micrognathia, Dextrocardia, Vertebral fusion |
OMIM:221950 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Flexion contracture, Retrognathia, Micrognathia, Anisocytosis, Camptodactyly, Rocke... |
OMIM:604273 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Double outlet right ventricle, Bicuspid aortic valve, Talipes equi... |
OMIM:618845 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... |
ORPHA:2779 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... |
OMIM:613673 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Abnormal heart morp... |
ORPHA:1505 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Patellar dislocation, Clinoda... |
ORPHA:3320 |
Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Malar flattening, Horizontal... |
OMIM:108721 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Accelerated skeletal maturation, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Ad... |
OMIM:618363 |
Slc35A2-Cdg |
|
Talipes equinovarus, Increased circulating thyroglobulin level, Craniosynostosis, Short tibia, Ap... |
ORPHA:356961 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Spinal canal stenosis, Dens in dente, Kyphoscoliosis, Clinodactyly of the 5th finger, 2-3 toe syn... |
OMIM:263540 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Thigh hypertrophy, Calf muscle hypertrophy, Elevated circulating creatine kinase concen... |
OMIM:606612 |
Aarskog-Scott Syndrome |
|
Clinodactyly of the 5th finger, Genu recurvatum, Small hand, Abnormal vertebral segmentation and ... |
ORPHA:915 |
Squalene Synthase Deficiency |
|
Bicuspid aortic valve, 2-3 toe syndactyly, Retrognathia, Micrognathia, Slender long bone, Increas... |
OMIM:618156 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Femoral bowing, Short neck, Ulnar deviation of finger, Carious teeth, Contractur... |
OMIM:601559 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... |
OMIM:616860 |
Verheij Syndrome |
|
Abnormal cardiac septum morphology, Hemivertebrae, Short neck, Short 5th finger, Scoliosis, Clino... |
OMIM:615583 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Situs inversus totalis, Dextr... |
OMIM:613686 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... |
OMIM:277300 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Sy... |
OMIM:224120 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... |
ORPHA:86841 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Reduced bone mineral density,... |
ORPHA:2370 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... |
ORPHA:3344 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Kniest Dysplasia |
|
Enlarged joints, Flexion contracture of finger, Short neck, Platyspondyly, Abnormal bone structur... |
ORPHA:485 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... |
OMIM:610017 |
Hypochondroplasia |
|
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Micromelia, Br... |
ORPHA:429 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
Gorlin Syndrome |
|
Arachnodactyly, Hemivertebrae, Vertebral fusion, Brachydactyly, Scoliosis, Carious teeth, Mandibu... |
ORPHA:377 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... |
ORPHA:1159 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Kyphosis, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Hemivertebrae, Brachydact... |
ORPHA:2916 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal reticulocyte morphology, Abnormal hip bone morphology, Micrognathia, Short nec... |
ORPHA:2522 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morphology, Abnormal metaphysis morp... |
ORPHA:93359 |
Microphthalmia With Limb Anomalies |
|
Sandal gap, Hypoplasia of the maxilla, Bowing of the long bones, Short long bone, Elbow dislocati... |
ORPHA:1106 |
Potocki-Lupski Syndrome |
|
Dental malocclusion, Atrial septal defect, Micrognathia, Scoliosis, Hypocholesterolemia, Patent f... |
OMIM:610883 |
Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Lumbar hyperlordosis, 2-3 toe syndactyly, Butterfly vertebrae, Hyperplasia of the maxilla, Scolio... |
ORPHA:313892 |
Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Delayed eruption of teeth, Long foot,... |
OMIM:305620 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Talipes equinovarus, Butterfly vertebrae, Short ribs, Hypoplasia of the radius, Sho... |
OMIM:607143 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Malar flattening, Mesomelic arm short... |
OMIM:171480 |
Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Abnormality of the v... |
ORPHA:2345 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
Tibial Hemimelia |
|
Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... |
ORPHA:93322 |
Multiple Pterygium Syndrome, X-Linked |
|
Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Micrognathia, Abnor... |
OMIM:312150 |
Kbg Syndrome |
|
Delayed skeletal maturation, Cutaneous syndactyly, Short neck, Finger clinodactyly, Scoliosis, Th... |
ORPHA:2332 |
Pycnodysostosis |
|
Carious teeth, Rhizomelia, Hypoplasia of the maxilla, Spondylolisthesis, Increased bone mineral d... |
ORPHA:763 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Delayed eruption of teeth, Thin metacarpal cortices, C1-C2 subluxation, Thin bony cor... |
OMIM:259600 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Small hand, Syndactyly, Scoliosis, Clinodactyly, Thoracic hemivertebrae... |
ORPHA:1445 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Metatarsal osteolysis, Wrist pain, Micrognathia, Pes cavus, Osteopen... |
OMIM:166300 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleate... |
OMIM:108720 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr... |
ORPHA:93314 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... |
ORPHA:93284 |
Carpenter Syndrome 1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, Ventricular septal defect, Ge... |
OMIM:201000 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... |
ORPHA:66637 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Thigh hypertrophy, Calf muscle hypertrophy, Elevated circulating creatine kinase concen... |
OMIM:607155 |
Atelosteogenesis Type Iii |
|
Abnormality of the humerus, Hand clenching, Patellar dislocation, Elbow dislocation, Talipes equi... |
ORPHA:56305 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Micrognathia, Short tibia, Short neck... |
OMIM:251230 |
Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Micrognathia, Abnor... |
OMIM:253290 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Antecubital pterygium, Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Short ... |
OMIM:618469 |
Isolated Osteopoikilosis |
|
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... |
ORPHA:166119 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Cervical C2/C3 vertebral fusion, Short distal phalanx of the thum... |
ORPHA:370010 |
Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... |
OMIM:135100 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... |
OMIM:201170 |
Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Spinal rigidit... |
ORPHA:337 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, S... |
ORPHA:1988 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Dental malocclusion, Nar... |
OMIM:608940 |
Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... |
OMIM:244600 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Malar flattening, Steatorrhea, Osteoporosis, Hypocholesterolemia |
OMIM:266510 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... |
OMIM:178110 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, D... |
OMIM:605274 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Hypoplasia... |
OMIM:274000 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Cohen Syndrome |
|
Lumbar hyperlordosis, Thoracic scoliosis, Macrodontia of permanent maxillary central incisor, Joi... |
OMIM:216550 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... |
ORPHA:1436 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Omodysplasia 1 |
|
Short neck, Ventricular septal defect, Rhizomelia, Anterolateral radial head dislocation, Increas... |
OMIM:258315 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Block vertebrae, Delayed skeletal maturation, Vertebral segmentation defect, Epiphyse... |
OMIM:272460 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Accelerated skeletal maturation, Cone-shaped epiphysis, Upper limb undergrowth, Br... |
ORPHA:439822 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Bowing of the long bones, Elbow dislocation, Carpal synostosi... |
ORPHA:90652 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Vertebral clefting, Scoliosis, Patchy distortion of vertebrae, Hy... |
ORPHA:1248 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the distal phalanx of... |
OMIM:268310 |
Acrodysostosis |
|
Spinal canal stenosis, Short toe, Abnormal morphology of ulna, Accelerated skeletal maturation, H... |
ORPHA:950 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Short metacarpal, Accelerated skeletal maturation, Upper limb undergrowth, Arthralgia of the hip,... |
ORPHA:93307 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... |
OMIM:250215 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... |
OMIM:601560 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Geroderma Osteodysplasticum |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Tibial bowing, Kyphoscoliosis, Recurr... |
OMIM:231070 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Stickler Syndrome Type 1 |
|
Osteoarthritis, Platyspondyly, Abnormality of vertebral epiphysis morphology, Mitral valve prolap... |
ORPHA:90653 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... |
OMIM:618000 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna, Delayed skeletal ... |
OMIM:609945 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... |
OMIM:223800 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, Flexion contracture, Micrognathia, Short neck, Thoracolumbar sco... |
OMIM:616549 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... |
OMIM:300106 |
Greenberg Dysplasia |
|
Hepatomegaly, Anterior rib punctate calcifications, Horizontal sacrum, Platyspondyly, Micromelia,... |
OMIM:215140 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Low back pain, Missing ribs, Vertebral... |
OMIM:122600 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Hepatomegaly, Absent glenoid fossa, Clinodactyly of the 3rd finger,... |
ORPHA:96334 |
Dental Anomalies And Short Stature |
|
Narrow vertebral interpedicular distance, Platyspondyly, Amelogenesis imperfecta, Mitral valve pr... |
OMIM:601216 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Dental malocclusion, Cortical sclerosis, Osteomyelitis, ... |
ORPHA:210110 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender long bones with narrow diaphyses, Osteopenia, Metaphyseal striations, Short femoral neck,... |
OMIM:608154 |
Asymmetric Short Stature Syndrome |
|
Lumbar scoliosis, Micrognathia, Hemihypotrophy of lower limb, Fused cervical vertebrae |
OMIM:108450 |
Brachytelephalangic Chondrodysplasia Punctata |
|
C1-C2 subluxation, Ventricular septal defect, Hypoplasia of the maxilla, Epiphyseal stippling of ... |
ORPHA:79345 |
Alg12-Cdg |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Abnormal bone ossification, Muscular ventric... |
ORPHA:79324 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphy... |
ORPHA:1427 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
Chylomicron Retention Disease |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Broad metacarpals, Cervical C2/C3 vertebral fusion, Joint stiffness, Limitation of joint mobility... |
OMIM:151200 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Joint stiffness, Brachydactyly, Abnormality of the ankles, Scoliosis, Cuboidal metacarpal, Elbow ... |
ORPHA:968 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Micrognathia, Preaxial polydacty... |
OMIM:617925 |
Dysostosis, Stanescu Type |
|
Kyphosis, Increased bone mineral density, Massively thickened long bone cortices, Short neck, Mic... |
ORPHA:1798 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Lateral Meningocele Syndrome |
|
Kyphosis, Bicuspid aortic valve, Sclerosis of skull base, Malar flattening, Micrognathia, Short n... |
OMIM:130720 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx, Symphalangism affecting t... |
ORPHA:1540 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... |
ORPHA:457395 |
Weismann-Netter Syndrome |
|
Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b... |
OMIM:112350 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... |
OMIM:309620 |
Mosaic Trisomy 20 |
|
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Abnormal mitral valve morphology,... |
ORPHA:1724 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Hypoplasia of the maxilla, Part... |
ORPHA:363417 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Small finger, Hypoplasia of the maxilla, Delayed skeletal maturation, Clinodactyly of the 5th fin... |
OMIM:170390 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatomegaly, Leukocytosis, Anisocytosis, Hepatosplenomegaly, ... |
OMIM:618278 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Periostitis, Joint swelling, Osteomyelitis, Elevated circulating C-reactive protein concentration... |
OMIM:612852 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Osteopenia, Delayed cranial suture closure, Brachydactyly, Scoliosis, Slender long ... |
OMIM:601812 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
Abetalipoproteinemia |
|
Abnormal circulating apolipoprotein concentration, Kyphoscoliosis, Talipes equinovarus, Hyperbili... |
ORPHA:14 |
Cleidocranial Dysplasia |
|
Down-sloping shoulders, Delayed eruption of teeth, Tapered finger, Carious teeth, Genu valgum, Ab... |
ORPHA:1452 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Thoracomelic Dysplasia |
|
Short ribs, Short neck, Hyperlordosis, Abnormality of fibula morphology, Limb undergrowth, Genu v... |
ORPHA:1803 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Progressive bowi... |
ORPHA:1826 |
Koolen-De Vries Syndrome |
|
Vertebral segmentation defect, Kyphosis, Abnormal cardiac septum morphology, Bicuspid aortic valv... |
ORPHA:96169 |
Gorham-Stout Disease |
|
Abnormality of femur morphology, Mandibular pain, Abnormality of finger, Osteomyelitis, Abnormal ... |
ORPHA:73 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Hypocholesterolemia, Rickets |
OMIM:607765 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal cardiac septum morphology, Malar flattening, Prominence of the premaxilla, Congenital hi... |
ORPHA:2412 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc... |
OMIM:615558 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Spinal canal stenosis, Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abno... |
OMIM:307800 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Down-sloping shoulders, Short neck, Ulnar deviation of finger, Rocke... |
OMIM:265000 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Micro... |
ORPHA:93346 |
Lamb-Shaffer Syndrome |
|
Micrognathia, Scoliosis, Fused cervical vertebrae, Thoracic kyphosis, Hip dysplasia |
ORPHA:530983 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... |
ORPHA:93352 |
Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Short neck, Abnormality of the ankles, Abnormal femoral head morphology, Hypo... |
ORPHA:239 |
Congenital Erythropoietic Porphyria |
|
Erythrodontia, Splenomegaly, Increased erythrocyte protoporphyrin concentration, Anisocytosis, Le... |
ORPHA:79277 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Micrognathia, Neonatal death, Hypocholesterolemia, Hypertrophic cardiomyopathy |
OMIM:618810 |
Basal Cell Nevus Syndrome |
|
Short distal phalanx of the thumb, Kyphoscoliosis, Short ribs, Hemivertebrae, Vertebral fusion, D... |
OMIM:109400 |
Dyschondrosteosis And Nephritis |
|
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm |
OMIM:127350 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Calvarial hy... |
OMIM:101800 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Osteolysis, Hypoplasia of the maxilla |
ORPHA:2776 |
Myhre Syndrome |
|
Cone-shaped epiphysis, Short neck, Platyspondyly, Ventricular septal defect, Hypoplasia of the ma... |
OMIM:139210 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Arachnodactyly, Micrognathia, Camptodactyly of finger, Brachydactyly, Scoli... |
ORPHA:776 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Delayed skeletal maturation, Decreased LDL cholesterol concentration, Hypocholesterolemia, Decrea... |
OMIM:616834 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Ventricular septal defect, Fused cervical... |
OMIM:214300 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... |
ORPHA:2725 |
Cantu Syndrome |
|
Delayed skeletal maturation, Bicuspid aortic valve, Broad first metatarsal, Congenital hypertroph... |
OMIM:239850 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Short distal phalanx of the thumb, Finger syndactyly, Radial club ... |
ORPHA:959 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Caudal Regression Syndrome |
|
Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Talipes equinovaru... |
ORPHA:3027 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Kyphosis, Hepatomegaly, Flexion contracture, Steatorrhea, Osteopenia, Thrombocytosis, Hypocholest... |
OMIM:212065 |
Codas Syndrome |
|
Coronal cleft vertebrae, Congenital hip dislocation, Brachydactyly, Scoliosis, Abnormal form of t... |
ORPHA:1458 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic an... |
OMIM:614470 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Hyporeflexia of lower l... |
ORPHA:96180 |
Occipital Horn Syndrome |
|
Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Platyspondyly, ... |
ORPHA:198 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Short neck, V... |
OMIM:609053 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... |
OMIM:616959 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Avascular necrosis, Osteomyelitis, Leukocytosis, Hypochromic a... |
ORPHA:232 |
Kniest Dysplasia |
|
Enlarged joints, Short neck, Platyspondyly, Hypoplastic pelvis, Rhizomelia, Dumbbell-shaped long ... |
OMIM:156550 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the femoral head, Th... |
OMIM:209950 |
Kaufman Oculocerebrofacial Syndrome |
|
Clinodactyly of the 5th finger, Atrial septal defect, Micrognathia, Congenital hip dislocation, C... |
OMIM:244450 |
Cartilage-Hair Hypoplasia |
|
Abnormal cardiac septum morphology, Hepatomegaly, Accelerated skeletal maturation, Abnormally oss... |
ORPHA:175 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of... |
ORPHA:397973 |
Sheldon-Hall Syndrome |
|
Vertebral segmentation defect, Joint stiffness, Abnormal hip bone morphology, Adducted thumb, Mic... |
ORPHA:1147 |
Grant Syndrome |
|
Joint dislocation, Abnormality of the glenoid fossa, Micrognathia, Joint hyperflexibility, Wormia... |
ORPHA:2097 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Bone pain, Osteomyelitis, Elevated circulating C-reactive protein concentration, Scoliosis, Arthr... |
ORPHA:324964 |
Alkaptonuria |
|
Kyphosis, Aortic valve calcification, Intervertebral disc degeneration, Mitral valve calcificatio... |
OMIM:203500 |
Koolen-De Vries Syndrome |
|
Kyphosis, Bicuspid aortic valve, Spondylolisthesis, Slender finger, Prominent fingertip pads, Atr... |
OMIM:610443 |
Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Brachydactyly, Tetralogy of Fallot, Camptodactyly, Postaxial hand ... |
OMIM:136760 |
Camurati-Engelmann Disease |
|
Abnormality of femur morphology, Hepatomegaly, Abnormality of the humerus, Delayed eruption of te... |
ORPHA:1328 |
Martsolf Syndrome 1 |
|
Finger joint hypermobility, Broad fingertip, Hypoplasia of the maxilla, Talipes equinovarus, Slen... |
OMIM:212720 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Orofaciodigital Syndrome Ix |
|
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly |
OMIM:258865 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, Delayed... |
OMIM:264700 |
Shox-Related Short Stature |
|
Forearm undergrowth, Tibial bowing, Micrognathia, Short neck, Scoliosis, Genu valgum, Cubitus val... |
ORPHA:314795 |
Orofaciodigital Syndrome Type 2 |
|
Cone-shaped epiphyses of the phalanges of the hand, Atrioventricular canal defect, Complete dupli... |
ORPHA:2751 |
Fibrochondrogenesis 1 |
|
Short neck, Platyspondyly, Rhizomelia, Dumbbell-shaped long bone, Short long bone, Widely patent ... |
OMIM:228520 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Overlapping toe, Beaking of vertebral bodies, Talipes equinovarus, Atrial septal defect, Craniosy... |
OMIM:213980 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Malar flattening, Brachydactyly, Abnormal form of the vertebral bodies, Abnormal metacarpal morph... |
ORPHA:93262 |
Coffin-Lowry Syndrome |
|
Abnormal mitral valve morphology, Broad finger, Delayed eruption of teeth, Tapered finger, Advanc... |
ORPHA:192 |
Acro-Renal-Mandibular Syndrome |
|
Kyphosis, Butterfly vertebrae, Split foot, Hypoplasia of the radius, Micrognathia, Hemivertebrae,... |
ORPHA:958 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Talipes equinovarus, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Clinodac... |
ORPHA:85279 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... |
OMIM:618963 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Short neck, Abnormal... |
OMIM:118100 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Hepatomegaly, Atrial septal defect, Flexion contracture, Splenomegaly, Retrognath... |
OMIM:608149 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Ulnar deviation of the wrist, Ulnar deviation of finger, Abnormality of ... |
ORPHA:1529 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Atrioventricular canal defect, Short neck, Broad hallux, Cervical hemivertebrae, V... |
ORPHA:508498 |
Cohen Syndrome |
|
Kyphosis, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Micrognat... |
ORPHA:193 |
Keipert Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Broad hallux phalanx, Broad dista... |
ORPHA:2662 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Delayed epiphyseal ossification, Bowin... |
OMIM:600081 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone pain, Recurrent fractures, Hypophosphatemia, Hypocalcemia, Bone cyst, Joint dislocation, Abn... |
ORPHA:93160 |
Split-Hand/Foot Malformation 3 |
|
Split hand, Microretrognathia, Hypoplasia of the maxilla, Camptodactyly |
OMIM:246560 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Accelerated skeletal maturation, Congenital hip dislocation, Short neck, Ventricula... |
ORPHA:373 |
Vitamin D-Dependent Rickets, Type 2A |
|
Femoral bowing, Delayed eruption of teeth, Carious teeth, Thin bony cortex, Metaphyseal irregular... |
OMIM:277440 |
Coxopodopatellar Syndrome |
|
Aplasia/Hypoplasia of the patella, Abnormal epiphysis morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1509 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Craniosynostosis, Delayed eruption of teeth, Polyarticular arthritis, Scl... |
ORPHA:289176 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Tricuspid stenosis, Short neck, Hypoplasia of the capital femoral epiphysis, Delayed eruption of ... |
OMIM:143095 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
Orotic Aciduria |
|
Hypochromia, Atrial septal defect, Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventri... |
OMIM:258900 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
Pfeiffer Syndrome |
|
Clinodactyly of the 5th finger, Short neck, Synostosis of carpal bones, Symphalangism affecting t... |
ORPHA:710 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Temporomandibular joint ankylosis, Ul... |
OMIM:164900 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Tibial bowing, Recurrent fractures, Dentinogenesis imperfecta, Micrognathia, Decreased ... |
OMIM:259420 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Micrognathia, Retrognathia, Short 5th finger, Neonatal death, Hypoplasi... |
OMIM:227270 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
2-3 toe syndactyly, Flexion contracture, Scoliosis, Long fingers, Tapered finger, Hypoplasia of t... |
OMIM:218000 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Abnormality of the humerus, Thin bony cortex, Abnormal bone stru... |
ORPHA:249 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... |
OMIM:613091 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Malar flattening, Broad hallux phalanx, Broad thumb, Hypoplasia of the maxilla |
ORPHA:261295 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Accelerated skeletal maturation, Craniosynostosis, Talipes equinovalgus, Metacarpophalangeal join... |
OMIM:245600 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Broad hallux, Fused cervical vertebrae, Broad thumb, Proximal/mid... |
OMIM:184460 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis, Long foot, Hypoplasia of the maxilla, Mandibular prognathia |
OMIM:300676 |
Dubowitz Syndrome |
|
Delayed skeletal maturation, Clinodactyly of the 5th finger, Micrognathia, Syndactyly, Aplastic a... |
OMIM:223370 |
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Hypoplasia of the maxilla, Craniosynostosis |
OMIM:608432 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Eruption failure, Delayed tarsal ossification, Dela... |
OMIM:600002 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Sillence Syndrome |
|
Platyspondyly, Abnormal vertebral morphology, Large tarsal bones, Back pain, Chess-pawn distal ph... |
ORPHA:3168 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Short neck, Brachydactyly, Syndactyly, Short 5th finger,... |
OMIM:305400 |
Robinow Syndrome |
|
Tricuspid atresia, Hemivertebrae, Ventricular septal defect, Bifid distal phalanx of the thumb, A... |
ORPHA:97360 |
Malan Syndrome |
|
Accelerated skeletal maturation, Retrognathia, Scoliosis, Advanced eruption of teeth, Long finger... |
OMIM:614753 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Flexion contracture, Short femur, Short ribs, Micrognathia, Flared me... |
OMIM:616897 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Dental malocclusion, Clinodactyly of the 5th finger, Down-sloping shoulders, Syndactyly, Camptoda... |
OMIM:227330 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Abnormal morphology of ulna, Split foot, Abnormality of the ankles, Aplasia/Hy... |
ORPHA:1307 |
Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Acanthocytosis, Steatorrhea |
ORPHA:71 |
Mohr Syndrome |
|
Metaphyseal irregularity, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Agenes... |
OMIM:252100 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the hand, Hypoplasia of... |
OMIM:122880 |
Apert Syndrome |
|
Craniosynostosis, Cutaneous syndactyly, Delayed eruption of teeth, Rhizomelic arm shortening, Ven... |
OMIM:101200 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Hepatomegaly, Splenomegaly, Brachydactyly, Advanced eruption of teeth,... |
ORPHA:1133 |
Nager Syndrome |
|
Joint stiffness, Hypoplasia of the radius, Micrognathia, Hypoplasia of the zygomatic bone, Aplasi... |
ORPHA:245 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Congenital hip dislocation, Enlarged kidney, Ventric... |
OMIM:306955 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Short ribs, Platyspondyly, Brachydactyly, Postaxial polysyndactyly of foot,... |
OMIM:263520 |
Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Micrognathia, Abnormal form of the vertebral bodies, Limb underg... |
ORPHA:3429 |
Cinca Syndrome |
|
Abnormal joint morphology, Elevated circulating C-reactive protein concentration, Hepatomegaly, L... |
ORPHA:1451 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Micromelia, Hammertoe, Ventricular septal defect, Hip subluxation, Epiphyseal stipp... |
OMIM:270400 |
Van Maldergem Syndrome 2 |
|
Dental malocclusion, Short clavicles, Talipes equinovarus, Malar flattening, Short fourth metatar... |
OMIM:615546 |
Shprintzen-Goldberg Syndrome |
|
Joint stiffness, Craniosynostosis, Arachnodactyly, Micrognathia, Camptodactyly of finger, Retrogn... |
ORPHA:2462 |
Wolf-Hirschhorn Syndrome |
|
Craniofacial asymmetry, Radioulnar synostosis, Ventricular septal defect, Delayed skeletal matura... |
OMIM:194190 |
Seckel Syndrome 1 |
|
Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5... |
OMIM:210600 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Malar ... |
ORPHA:1788 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Craniosynostosis, Osteopenia, Bullet-shaped phalanges of the hand, Enlarged kidney,... |
OMIM:252500 |
Van Maldergem Syndrome 1 |
|
Dental malocclusion, Short clavicles, Talipes equinovarus, Malar flattening, Short fourth metatar... |
OMIM:601390 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Splenomegaly, Abnormally ossified vertebrae, Micrognathia, Abnormal... |
ORPHA:3035 |
Van Den Ende-Gupta Syndrome |
|
Craniosynostosis, Femoral bowing, Narrow foot, Tapered finger, Glenoid fossa hypoplasia, Long met... |
OMIM:600920 |
Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Atrial septal defect, Right ventricular hypertrophy, Brachydactyl... |
OMIM:614261 |
Meier-Gorlin Syndrome 1 |
|
Absent glenoid fossa, Hemivertebrae, Genu valgum, Hypoplasia of the maxilla, Delayed skeletal mat... |
OMIM:224690 |
Duane Retraction Syndrome |
|
Talipes equinovarus, Hypoplasia of the radius, Micrognathia, Absent radius, Short neck, Brachydac... |
ORPHA:233 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Malar flattening, Abnormality of the vertebral column, Hypoplasia of the maxilla, Hip dislocation... |
OMIM:109120 |
Duane-Radial Ray Syndrome |
|
Atrial septal defect, Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Short humerus... |
OMIM:607323 |
Cinca Syndrome |
|
Patellar overgrowth, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... |
OMIM:607115 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Small abnormally formed scapulae, Tibial bowing, Ta... |
ORPHA:140 |
Pfeiffer Syndrome |
|
Elbow ankylosis, Coronal craniosynostosis, Syndactyly, Short middle phalanx of toe, Broad hallux,... |
OMIM:101600 |
Cousin Syndrome |
|
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, ... |
OMIM:260660 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Retrognathia, Camptodactyly of 2nd-5th fin... |
OMIM:206920 |
Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Postaxial polydactyly, Limb undergrowth, Genu valgum, Complete atr... |
OMIM:619142 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Tibial bowing, Radial bowing, Dentinogenesis imperfecta, Recurrent fractures, Femoral r... |
OMIM:610915 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Tibial bowing, Hypophosphatemia, Subperiosteal bone resorption, ... |
ORPHA:289157 |
Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Atrial septal defect, Short femoral neck, Tapered finger, Tetralogy of Fallot, V... |
OMIM:617159 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hemato... |
OMIM:259720 |
Kbg Syndrome |
|
Delayed skeletal maturation, Clinodactyly of the 5th finger, Ulnar deviation of the 2nd finger, C... |
OMIM:148050 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dislocated radial head, Dental malocclusion, Talipes equinovarus, Genu recurvatum, Joint contract... |
OMIM:182212 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Tibial bowing, Delayed epip... |
OMIM:300554 |
Spondylospinal Thoracic Dysostosis |
|
Micrognathia, Multiple pterygia, Hypoplasia of the maxilla, Arthrogryposis multiplex congenita |
OMIM:601809 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
Spastic Paraplegia 16, X-Linked |
|
Short distal phalanx of finger, Hypoplasia of the maxilla |
OMIM:300266 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Abnormal dental enamel morphology, Dental malocclusion, Macrodontia of permanent maxillary centra... |
OMIM:257850 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Atrial septal defect, Hyperbilirubinemia, Elevated circulating lon... |
OMIM:614886 |
Subaortic Stenosis--Short Stature Syndrome |
|
Short toe, Malar flattening, Membranous subvalvular aortic stenosis, Small hand, Short neck, Broa... |
OMIM:271960 |
Cantú Syndrome |
|
Short distal phalanx of finger, Delayed skeletal maturation, Deep plantar creases, Accelerated sk... |
ORPHA:1517 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Delayed skeletal ma... |
OMIM:210720 |
Prolidase Deficiency |
|
Hepatomegaly, Abnormal hip bone morphology, Arachnodactyly, Micrognathia, Splenomegaly, Reduced b... |
ORPHA:742 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Osteopenia, Short neck, Biconcave vertebral bodies, Ventricular septal defect, Oste... |
ORPHA:955 |
Andersen-Tawil Syndrome |
|
2-3 toe syndactyly, Persistence of primary teeth, Small hand, Micrognathia, Scoliosis, Dilated ca... |
ORPHA:37553 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Lowry-Maclean Syndrome |
|
Widely patent coronal suture, Atrioventricular canal defect, Retrognathia, Micrognathia, Craniosy... |
ORPHA:2409 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Flexion contracture, Arachnodactyly, Thoracic kyphoscoliosis, Broad hallux, Broad thumb, Hyperext... |
ORPHA:481152 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Metaphyseal dysplasia, Hepatomegaly, Hyperbilirubinemia, Lymphocyt... |
ORPHA:1667 |
8Q22.1 Microdeletion Syndrome |
|
Craniosynostosis, Camptodactyly of finger, Short neck, Sandal gap, Hypoplasia of the maxilla, Lim... |
ORPHA:178303 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Marshall-Smith Syndrome |
|
Short sternum, Slender finger, Prominent fingertip pads, Craniosynostosis, Distal widening of met... |
OMIM:602535 |
Tangier Disease |
|
Left ventricular hypertrophy, Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Anem... |
ORPHA:31150 |
Jeune Syndrome |
|
Cone-shaped epiphysis, Micromelia, Brachydactyly, Postaxial hand polydactyly, Postaxial foot poly... |
ORPHA:474 |
Apert Syndrome |
|
Vertebral segmentation defect, Micromelia, Delayed eruption of teeth, Broad thumb, Hypoplasia of ... |
ORPHA:87 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Craniosynostosis, Abnormality of the vertebral column, Limited elbo... |
OMIM:265050 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Bilateral talipes equinovarus, Popliteal pterygium, Mirror image foot polyda... |
OMIM:119800 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Supernumerary tooth, Micrognathia, Hypoplasia of the zygomatic bone, Carious teeth, Limitation of... |
ORPHA:3145 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Cario... |
OMIM:114290 |
Acrorenal-Mandibular Syndrome |
|
Kyphoscoliosis, Butterfly vertebrae, Split foot, Hypoplasia of the radius, Micrognathia, Hand pol... |
OMIM:200980 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis, Missing ribs, Block ve... |
OMIM:271520 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Coxoauricular Syndrome |
|
Abnormality of femur morphology, Reduced bone mineral density, Micromelia, Abnormal pelvic girdle... |
ORPHA:1508 |
Weill-Marchesani Syndrome 1 |
|
Broad metacarpals, Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Aortic valve ste... |
OMIM:277600 |
Antley-Bixler Syndrome |
|
Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Arachnodactyly, Femoral ... |
ORPHA:83 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Leukocytosis, S... |
ORPHA:231222 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ulnar radial head dislocation, Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Myelofibrosis, Acute myelomonocytic leukemia, Splenomegaly, Low back pain, Pancyto... |
ORPHA:86843 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Atrial septal defect, Malar flattening, Bilateral talipes equinovarus, Brachydactyly, Postaxial o... |
OMIM:608571 |
Aicardi Syndrome |
|
Butterfly vertebrae, Prominence of the premaxilla, Small hand, Scoliosis, Missing ribs, Block ver... |
ORPHA:50 |
Craniolenticulosutural Dysplasia |
|
High iliac wing, Scoliosis, Delayed eruption of teeth, Joint hyperflexibility, Carious teeth, Pes... |
ORPHA:50814 |
Oncogenic Osteomalacia |
|
Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Hypocalcemia, Fibrous dysplasia... |
ORPHA:352540 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Intellectual Disability, Buenos-Aires Type |
|
Dental malocclusion, Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Reduced ... |
ORPHA:3079 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Pes planus, Hypoplasia of the maxilla |
OMIM:618302 |
Weill-Marchesani Syndrome 2 |
|
Broad metacarpals, Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Aortic valve ste... |
OMIM:608328 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:93950 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Talipes calcaneovarus, Short distal phalanx of finger, Talipes equinovarus, Flexion contracture, ... |
OMIM:300534 |
Fucosidosis |
|
Lumbar hyperlordosis, Hepatomegaly, Vacuolated lymphocytes, Flexion contracture, Splenomegaly, Ab... |
OMIM:230000 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Lymphopenia, Secondary hyperaldosteronism, Decreas... |
ORPHA:90363 |
Distal 17P13.1 Microdeletion Syndrome |
|
Generalized joint laxity, Retrognathia, Arachnodactyly, Limited elbow movement, Limitation of kne... |
ORPHA:319171 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Butterfly vertebrae, Muscular ventricular septal defect, Retrognathia, Spina bifida occulta, Fuse... |
OMIM:619227 |
Acromesomelic Dysplasia 3 |
|
Delayed skeletal maturation, Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes... |
OMIM:609441 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Malar flattening, Coronal craniosynostosis, Micrognathia, Hypoplasia of the... |
OMIM:241310 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Majeed Syndrome |
|
Metaphyseal irregularity, Osteomyelitis, Hepatomegaly, Increased bone mineral density, Leukocytos... |
ORPHA:77297 |
Saethre-Chotzen Syndrome |
|
Clinodactyly of the 5th finger, Craniosynostosis, Proximal radio-ulnar synostosis, Delayed crania... |
ORPHA:794 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Secundum atrial septal defect, Hypoplas... |
OMIM:142900 |
Singleton-Merten Syndrome 1 |
|
Expanded metacarpals with widened medullary cavities, Osteopenia, Carious teeth, Osteolytic defec... |
OMIM:182250 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Ankle swelling, Anemia |
ORPHA:514 |
Crouzon Syndrome |
|
Abnormal sacrum morphology, Multiple suture craniosynostosis, Hypoplasia of the maxilla |
ORPHA:207 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar deviation of finger, Abnormal pelvic gi... |
ORPHA:2928 |
Ivic Syndrome |
|
Joint stiffness, Leukocytosis, Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of... |
ORPHA:2307 |
Myhre Syndrome |
|
Abnormal cardiac septum morphology, Craniofacial hyperostosis, Joint stiffness, Large iliac wing,... |
ORPHA:2588 |
Cerebrofacioarticular Syndrome |
|
Talipes equinovarus, Tracheomalacia, Pulmonic stenosis, Micrognathia, Osteopenia, Syndactyly, Cam... |
ORPHA:314679 |
Cleft Velum |
|
Hypoplasia of the maxilla |
ORPHA:99772 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal hip bone morphology, Genu varum, Carious teeth, Hypoplasia of the zygomatic bone, Mandib... |
ORPHA:1110 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Talipes equinovarus, Adducted thumb, Micrognathia, Hypoplasia of the thymus, ... |
OMIM:617022 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Prominent metopic ridge, Irregular femoral epiphysis, Hypoplasia of the capital fem... |
OMIM:613805 |
Attrv122I Amyloidosis |
|
Spinal canal stenosis, Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Le... |
ORPHA:85451 |
Immunodeficiency 92 |
|
Osteomyelitis, Hepatomegaly, Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decr... |
OMIM:619652 |
Dent Disease 1 |
|
Metaphyseal irregularity, Tibial bowing, Hypophosphatemia, Delayed epiphyseal ossification, Bowin... |
OMIM:300009 |
Axial Mesodermal Dysplasia Spectrum |
|
Vertebral segmentation defect, Micrognathia, Short neck, Abnormality of the spleen, Scoliosis, Ab... |
ORPHA:1834 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Flexion contracture, Arachnodactyly, Micrognathia, Hyperextensibility of th... |
OMIM:309520 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Short distal phalanx of finger, Joint stiffness, Brachydactyly, Hypoplasia of the zygomatic bone,... |
ORPHA:1295 |
Distal Xq28 Microduplication Syndrome |
|
Hypoplasia of the maxilla, Patent foramen ovale, Clinodactyly, Metatarsus adductus, Neonatal hype... |
ORPHA:293939 |
Meier-Gorlin Syndrome 3 |
|
Coxa vara, Talipes equinovarus, Microretrognathia, Short ribs, Tracheomalacia, Micrognathia, Apla... |
OMIM:613803 |
Refractory Anemia With Excess Blasts |
|
Bone pain, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnor... |
ORPHA:86839 |
Melnick-Needles Syndrome |
|
Tricuspid valve prolapse, Cone-shaped epiphyses of the phalanges of the hand, Delayed eruption of... |
OMIM:309350 |
Stickler Syndrome |
|
Platyspondyly, Advanced eruption of teeth, Genu valgum, Abnormal epiphysis morphology, Hypoplasia... |
ORPHA:828 |
Nablus Mask-Like Facial Syndrome |
|
Joint contracture of the hand, Craniosynostosis, Retrognathia, Short neck, Tapered finger, Campto... |
OMIM:608156 |
Aicardi Syndrome |
|
Butterfly vertebrae, Prominence of the premaxilla, Hemivertebrae, Block vertebrae, Scoliosis, Mis... |
OMIM:304050 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility, Short femur, Fem... |
OMIM:211350 |
Acrofacial Dysostosis, Catania Type |
|
Clinodactyly of the 5th finger, Microretrognathia, Small hand, Brachydactyly, Spina bifida occult... |
ORPHA:1786 |
Schneckenbecken Dysplasia |
|
Hypoplastic vertebral bodies, Accelerated skeletal maturation, Malar flattening, Short ribs, Incr... |
ORPHA:3144 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve, Micrognathia, Hypoplasia of the maxilla, Trismus, Delayed eruption of prim... |
OMIM:616367 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Malar flattening, Micrognathia, Hypoplasia of the maxilla, Preaxial hand po... |
ORPHA:79113 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... |
ORPHA:3109 |
Ellis Van Creveld Syndrome |
|
Short distal phalanx of finger, Delayed skeletal maturation, Atrial septal defect, Atrioventricul... |
ORPHA:289 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Hypoplasia of the maxilla |
OMIM:618737 |
Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Hemivertebrae, Ventricular septal defect, Vertebral hypoplasia, Missing ribs... |
OMIM:206900 |
Hydrolethalus Syndrome 1 |
|
Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under... |
OMIM:236680 |
Multiple Osteochondromas |
|
Abnormality of femur morphology, Limitation of knee mobility, Abnormality of fibula morphology, A... |
ORPHA:321 |
Rubinstein-Taybi Syndrome 1 |
|
Prominent fingertip pads, Broad hallux, Ventricular septal defect, Hypoplasia of the maxilla, Leu... |
OMIM:180849 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Hypoplasia of the zygomatic bone, Genu valgum, Cubitus valgus, Mandibular prognathia, Joint hyper... |
ORPHA:1778 |
Frontometaphyseal Dysplasia 2 |
|
Dislocated radial head, Ulnar deviation of the hand, Bicuspid aortic valve, Talipes equinovarus, ... |
OMIM:617137 |
Harrod Syndrome |
|
Kyphosis, Dental malocclusion, Arachnodactyly, Scoliosis, Abnormal shoulder morphology, Abnormal ... |
ORPHA:2115 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Slender long bone, Hypoplasia of the maxilla, Patellar aplasia, De... |
OMIM:613804 |
Dyskeratosis Congenita |
|
Avascular necrosis, Recurrent fractures, Taurodontia, Coarse metaphyseal trabecularization, Hepat... |
ORPHA:1775 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Malar prominence, Scoliosis, Hypoplasia of the zygomatic bone, Sandal gap, Mandibular prognathia,... |
ORPHA:2715 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Short toe, Short phalanx of finger, Hypoplasia of the maxilla, Short metatarsal, Short metacarpal |
OMIM:211370 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis |
OMIM:617796 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Marshall Syndrome |
|
Malar flattening, Micrognathia, Osteoarthritis, Hypoplasia of the zygomatic bone, Hypoplastic fro... |
ORPHA:560 |
Bartsocas-Papas Syndrome 1 |
|
Absent thumb, Short neck, Hypoplasia of the maxilla, Pterygium, Talipes equinovarus, Flexion cont... |
OMIM:263650 |
Crouzon Syndrome |
|
Coronal craniosynostosis, Sagittal craniosynostosis, Hypoplasia of the maxilla, Abnormality of th... |
OMIM:123500 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Overlapping toe, Hepatomegaly, Arachnodactyly, Micrognathia, Severe B lymphocytopenia, Retrognath... |
ORPHA:83617 |
Arnold-Chiari Malformation Type I |
|
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Abnormality of the musculat... |
ORPHA:268882 |
Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... |
ORPHA:2879 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
Horizontal sacrum, Twelfth rib hypoplasia, Delayed skeletal maturation, Absent frontal sinuses, S... |
OMIM:211910 |
Cowden Syndrome 1 |
|
Kyphosis, Lymphopenia, Micrognathia, Scoliosis, Palmoplantar hyperkeratosis, Hypoplasia of the ma... |
OMIM:158350 |
Frontorhiny |
|
Lumbar hyperlordosis, Camptodactyly of finger, Brachydactyly, Finger clinodactyly, Scoliosis, Hyp... |
ORPHA:391474 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Atrial septal defect, Joint hypermobility, Muscular ventricular septal defect,... |
OMIM:157800 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Hepatomegaly, Ventricular septal defect, Rocker bottom foot, Cardi... |
OMIM:602782 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase concentration,... |
OMIM:618838 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:93945 |
Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Anomalous pulmonary venous return, Splenomegaly, Tracheomalacia,... |
OMIM:616368 |
Orofaciodigital Syndrome X |
|
Hand oligodactyly, Retrognathia, Coalescence of tarsal bones, Fibular aplasia, Preaxial hand poly... |
OMIM:165590 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Histiocytosis, Lymphocytosis, Hemophagocytosis, Spl... |
ORPHA:2442 |
Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture |
OMIM:607278 |
Trisomy 13 |
|
Ectrodactyly, Kyphosis, Atrial septal defect, Malar flattening, Scoliosis, Postaxial hand polydac... |
ORPHA:3378 |
Gapo Syndrome |
|
Micrognathia, Joint hyperflexibility, Delayed eruption of teeth, Abnormal form of the vertebral b... |
ORPHA:2067 |
Acrofacial Dysostosis, Cincinnati Type |
|
Flared lower limb metaphysis, Retrognathia, Femoral bowing, Micrognathia, Hypoplasia of the maxil... |
OMIM:616462 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short distal phalanx of finger, Coronal craniosynostosis, Abnormal metacarpal morphology, Abnorma... |
ORPHA:2095 |
Osteopathia Striata With Cranial Sclerosis |
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Ventricular septal defect, Delayed closure of the anterior fontanelle, Clinodactyly of the 5th fi... |
OMIM:300373 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Hemivertebrae, Short neck, Decreased c... |
OMIM:276820 |
Charge Syndrome |
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Hemivertebrae, Down-sloping shoulders, Hypoplasia of the ulna, Ventricular septal defect, Radial ... |
OMIM:214800 |
Distal Monosomy 19P13.3 |
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Tricuspid valve prolapse, Pulmonary valve atresia, Arachnodactyly, Ventricular septal defect, Hyp... |
ORPHA:96129 |
Aarskog Syndrome, Autosomal Dominant |
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Proximal finger joint hyperextensibility, Genu recurvatum, Hepatomegaly, Flexion contracture, Bra... |
OMIM:100050 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Clinodactyly of the 5th finger, Hypoplasia of the maxilla |
OMIM:167730 |
Thakker-Donnai Syndrome |
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Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck, Tetralogy of Fallot, Ventricular sept... |
ORPHA:1780 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
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Clinodactyly of the 5th finger, Microretrognathia, Hypoplasia of the maxilla |
ORPHA:228396 |
Fibular Dimelia-Diplopodia Syndrome |
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Sacrococcygeal teratoma, Absent tibia |
ORPHA:1757 |
Cowden Syndrome 5 |
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Kyphosis, Micrognathia, Scoliosis, Palmoplantar hyperkeratosis, Hypoplasia of the maxilla |
OMIM:615108 |
Ear-Patella-Short Stature Syndrome |
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Clinodactyly of the 5th finger, Craniosynostosis, Retrognathia, Micrognathia, Camptodactyly of fi... |
ORPHA:2554 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Abnormal dental enamel morphology, Micrognathia, Palmoplantar hyperkeratosis, Hyperlordosis, Cari... |
ORPHA:3253 |
Elsahy-Waters Syndrome |
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Cervical C2/C3 vertebral fusion, Dental malocclusion, Supernumerary tooth, Malar flattening, Impa... |
OMIM:211380 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Cervical C2/C3 vertebral fusion, Hypoplasia of proximal radius, Tracheomalacia, Small hand, Micro... |
ORPHA:444077 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
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Increased skull ossification, Micromelia, Short phalanx of finger, Abnormal shoulder morphology, ... |
ORPHA:1422 |
Melanocytic Nevus Syndrome, Congenital |
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Prominence of the premaxilla |
OMIM:137550 |
Cleft Lip/Palate |
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Dental malocclusion, Agenesis of lateral incisor, Abnormality of dental eruption, Hypoplasia of t... |
ORPHA:199306 |
Autoimmune Lymphoproliferative Syndrome |
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Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... |
ORPHA:3261 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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