| Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Platyspondyly, Osteopenia, Broad femoral neck, Thenar muscle atrophy, Moderately short stature, A... |
ORPHA:157965 |
| Diastrophic Dysplasia |
|
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Patellar dislocatio... |
OMIM:222600 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Joint contracture of the hand, Pes planus, Flattened epiphysis, Dislocated radial head, Short met... |
OMIM:612350 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... |
OMIM:156530 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino... |
OMIM:613330 |
| Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Absence of ... |
ORPHA:79106 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Severe short stature, Abnormality of subcutaneous fat tissue, Avascular necrosis of the capital f... |
ORPHA:1899 |
| Brachyolmia Type 1, Toledo Type |
|
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... |
OMIM:271630 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly, Severe short stature, Rhizomelia, Limitation of joint mobility, Wide distal femora... |
OMIM:619598 |
| Osteopenia And Sparse Hair |
|
Osteopenia, Joint hypermobility |
OMIM:259690 |
| Mazabraud Syndrome |
|
Recurrent fractures, Fibrous dysplasia of the bones |
ORPHA:57782 |
| Dysspondyloenchondromatosis |
|
Platyspondyly, Anisospondyly, Skin erosion, Lower limb asymmetry, Abnormal ulnar metaphysis morph... |
ORPHA:85198 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ... |
OMIM:616583 |
| Acrogeria |
|
Small hand, Skin ulcer, Micrognathia, Joint hypermobility, Aplasia/Hypoplasia of the skin, Short ... |
ORPHA:2500 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Disproportionate short-limb short stature, Epiphyseal stippling, Short humerus, Short... |
OMIM:600121 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, Advanced ossificatio... |
OMIM:618363 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Disproportionate short-limb short stature, Short tibia, Aplasia/Hypoplasia involvi... |
OMIM:200700 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob... |
ORPHA:93284 |
| Parastremmatic Dwarfism |
|
Severe short stature, Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Sco... |
OMIM:168400 |
| Progressive Pseudorheumatoid Dysplasia |
|
Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Abnormal foot morphology, ... |
OMIM:208230 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615269 |
| Geroderma Osteodysplastica |
|
Platyspondyly, Severe short stature, Abnormal epiphysis morphology, Abnormal form of the vertebra... |
ORPHA:2078 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Disproportionate short-tr... |
OMIM:184252 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Atypical scarring of skin, Skeletal muscle atrophy, Growth delay, Atrophic scars, Kyp... |
ORPHA:75496 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Dysplasia of the femoral head, Genu valgum, Micrognathia, Limited elbow movement, Short neck, Dis... |
ORPHA:94068 |
| Autosomal Dominant Brachyolmia |
|
Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short stature, Abnormal metaphysis mor... |
ORPHA:93304 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn... |
ORPHA:93360 |
| Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac bones... |
OMIM:271530 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Platyspondyly, Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Po... |
OMIM:618728 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Abnormality of subcutaneous fat tissue, Osteomalacia, Micrognathia, Hernia, Hip dislocation, Oste... |
ORPHA:1901 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve... |
OMIM:250460 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... |
ORPHA:174 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Disproportionate short stature, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Re... |
ORPHA:2501 |
| Hip Dysplasia, Beukes Type |
|
Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he... |
ORPHA:2114 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Kyphoscoliosis, Aplasia/Hypoplasia ... |
OMIM:600384 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Kyphoscoliosis, Joint hypermobility, Amelogenesis imperfecta, Diaphyseal dy... |
OMIM:614727 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Hyperconve... |
OMIM:184255 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Severe short stature, Hip osteoarthritis, ... |
OMIM:132400 |
| Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... |
ORPHA:93323 |
| Myopathic Ehlers-Danlos Syndrome |
|
Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m... |
ORPHA:536516 |
| Proteus Syndrome |
|
Mandibular hyperostosis, Cerebriform connective tissue nevus, Nevus, Hypertrophy of skin of soles... |
OMIM:176920 |
| Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Hypermobility of interphalangeal joints, Broad thumb, Broad hallux, Decreased muscle mass, Kyphos... |
ORPHA:3433 |
| Juvenile Hyaline Fibromatosis |
|
Skeletal muscle atrophy, Skin ulcer, Abnormal diaphysis morphology, Joint stiffness, Aplasia/Hypo... |
ORPHA:2028 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Skeletal muscle atrophy, Atrophic scars, Myopathy, Kyphoscoliosis, Hernia, Joint hype... |
ORPHA:300179 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Platyspondyly, Bowing of the legs, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Brac... |
OMIM:612847 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Nemaline Myopathy 7 |
|
Minicore myopathy, Nemaline bodies, Genu recurvatum, Shoulder girdle muscle weakness, Lumbar hype... |
OMIM:610687 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bones, Talipes e... |
OMIM:255800 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Aplasia/Hypoplasia of the skin, Dermal atrophy, Type E brachydactyly, Macule |
ORPHA:1962 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys... |
OMIM:617719 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... |
OMIM:600785 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Patchy osteosclerosis, Osteopenia, Thin skin, Skeletal muscle atrophy, Diaphyseal cortical sclero... |
OMIM:112250 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Ankle flexion contracture, Proximal muscle weakness in upper limbs, Proximal muscle weakness in l... |
OMIM:616668 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Severe short stature, Rhizomelia, Flared metaphysis, Epiphyseal stippling, Micrognathia, Calcific... |
OMIM:215100 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones |
ORPHA:53697 |
| Hyperekplexia 4 |
|
Umbilical hernia, Inguinal hernia, Kyphoscoliosis, Talipes equinovarus, Distal arthrogryposis, Ad... |
OMIM:618011 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Limited hip movement, Dysplasia of the femoral head, Hip contracture, Disproportionate short-trun... |
ORPHA:99642 |
| Richieri Costa-Da Silva Syndrome |
|
Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Decreased musc... |
ORPHA:3101 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Disproportionate short stature, Arthralgia of the hip, Limitatio... |
ORPHA:93308 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormal ilium morphology, Genu valgum, Micrognathia, Disproportionate short-trunk short stature,... |
ORPHA:93316 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Arthr... |
OMIM:618484 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... |
OMIM:147891 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... |
OMIM:607078 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... |
OMIM:156500 |
| Osteogenesis Imperfecta, Type Ii |
|
Platyspondyly, Abnormal pelvic girdle bone morphology, Disproportionate short-limb short stature,... |
OMIM:166210 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Abnormal vertebral morphology, Intrauterine growth retardation, Hamstring contractures, Micrognat... |
ORPHA:96183 |
| Fetal Encasement Syndrome |
|
Upper limb undergrowth, Tetralogy of Fallot, Congenital diaphragmatic hernia, Lower limb undergro... |
OMIM:613630 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Decreased calvarial ossification, Decreased skull ossification, Joint hypermobility, ... |
OMIM:610915 |
| Flynn-Aird Syndrome |
|
Dermal atrophy, Joint stiffness, Increased bone density with cystic changes, Kyphoscoliosis, Oste... |
OMIM:136300 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Pes planus, Sho... |
OMIM:184095 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Platyspondyly, Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral me... |
OMIM:609324 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... |
ORPHA:457395 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Joint contracture of the hand, Infancy onset short-trunk short stature... |
ORPHA:1159 |
| Congenital Myopathy 23 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi... |
OMIM:609285 |
| Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Overlapping toe, Cutaneous finger syndactyly, Micrognathia, Talipes equino... |
OMIM:114300 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... |
ORPHA:3329 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... |
ORPHA:1988 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Camptodactyly of finger, Thin skin |
ORPHA:1658 |
| Anauxetic Dysplasia 2 |
|
Posterior wedging of vertebral bodies, Intrauterine growth retardation, Hypoplasia of the femoral... |
OMIM:617396 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Limited elbow flexion, Double-layered patella, Hypoplasia of the femoral he... |
OMIM:226900 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
| Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Kyphosis, Atrophic scars, Myopathy, Distal joint ... |
OMIM:616471 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615271 |
| X-Linked Ehlers-Danlos Syndrome |
|
Umbilical hernia, Inguinal hernia, Joint hypermobility, Hernia, Short stature, Thin skin |
ORPHA:75497 |
| Familial Cervical Artery Dissection |
|
Abnormality of connective tissue, Striae distensae, Transient ischemic attack, Cerebral ischemia,... |
ORPHA:36382 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Knee flexion contracture, Kyphoscoliosis, Talipes equino... |
ORPHA:496689 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
| Osteogenesis Imperfecta, Type Xiii |
|
Platyspondyly, Dentinogenesis imperfecta, Skeletal muscle atrophy, Umbilical hernia, Wide distal ... |
OMIM:614856 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Webbed neck, Osteopenia, Flared metaphysis, Decreased fibular diameter, Intrauteri... |
OMIM:616897 |
| Periventricular Nodular Heterotopia |
|
Shoulder dislocation, Joint hypermobility, Hernia, Patellar dislocation, Scoliosis, Thin skin |
ORPHA:98892 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... |
OMIM:259600 |
| Weismann-Netter Syndrome |
|
Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Ab... |
ORPHA:3344 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Acromesomelia, Disproportionate short stature, Vertebral wedging, Abnormal form of the vertebral ... |
ORPHA:40 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes, Short neck... |
OMIM:601559 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Abnormality of the vertebral column, Slender long bone, Camptodactyly of finger, Elbow flexion co... |
OMIM:610758 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Capillary ... |
ORPHA:75508 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Genu recurvatum, Sandal gap, Atrophic scars, Recurrent shoulder dislocation, Genu valgum, Inguina... |
ORPHA:230851 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Atrophic scars, Mitral regurgitation, Mitral valve prolapse, Joint hypermob... |
OMIM:225320 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Platyspondyly, Epiphyseal dysplasia, Hypoplastic ilia, Osteopenia, Flared metaphysis, Carpal syno... |
OMIM:615349 |
| Atelosteogenesis Type Ii |
|
Hypoplastic cervical vertebrae, Equinovarus deformity, Genu valgum, Micrognathia, Short neck, Bro... |
ORPHA:56304 |
| Whistling Face Syndrome, Recessive Form |
|
Ulnar deviation of finger, Shoulder flexion contracture, Elbow flexion contracture, Micrognathia,... |
OMIM:277720 |
| Central Core Disease |
|
Congenital hip dislocation, Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint con... |
ORPHA:597 |
| Winchester Syndrome |
|
Carpal osteolysis, Osteolysis involving tarsal bones, Generalized osteoporosis, Subcutaneous nodu... |
OMIM:277950 |
| Myotonia With Skeletal Abnormalities And Impaired Intellectual Development |
|
Firm muscles, Vertebral wedging, Irregular femoral epiphysis, Genu valgum, Kyphoscoliosis, Short ... |
OMIM:255710 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Skeletal muscle hypertrophy, Hypertrophic cardiomyopathy, Congestive heart failure, S... |
ORPHA:2348 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Short stature, Kyphosis |
OMIM:618453 |
| Roussy-Lévy Syndrome |
|
Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Genu valgum, Pes cavus, K... |
ORPHA:3115 |
| Mandibuloacral Dysplasia |
|
Increased subcutaneous truncal adipose tissue, Contractures of the large joints, Increased adipos... |
ORPHA:2457 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Atypical scarring of skin, Striae distensae, Mitral valve prolapse, Joint hypermobility, Thin skin |
OMIM:225310 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Reduced subcutaneous adipose tissue, Myopathy, Loss of ... |
ORPHA:280365 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ... |
OMIM:600175 |
| Chst3-Related Skeletal Dysplasia |
|
Rhizomelia, Abnormal form of the vertebral bodies, Irregular epiphyses, Small epiphyses, Genu val... |
ORPHA:263463 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process, Cone-shape... |
OMIM:300232 |
| Contractural Arachnodactyly, Congenital |
|
Micrognathia, Hip contracture, Arachnodactyly, Bowing of the long bones, Short neck, Talipes equi... |
OMIM:121050 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Beaking of vertebral bodies, Pes planus, Broad toe, Flat acetabular roof,... |
OMIM:609616 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atlantoaxial dislocation, Postnatal growth retardation, Dysplasia of the femoral head, Micrognath... |
ORPHA:536467 |
| Pelviscapular Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me... |
ORPHA:93333 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... |
ORPHA:83451 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Severe short stature, Hypoplasia of proximal radius, Short tubular bones of the ha... |
OMIM:184253 |
| Osteogenesis Imperfecta, Type X |
|
Platyspondyly, Dentinogenesis imperfecta, Rhizomelia, Osteopenia, Micromelia, Genu valgum, Fibula... |
OMIM:613848 |
| Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta, Osteopenia, Vertebral wedging, Increased susceptibility to fractures, ... |
OMIM:610968 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... |
OMIM:201170 |
| Monosomy 5P |
|
Preauricular skin tag, Small hand, Microretrognathia, Finger syndactyly, Intrauterine growth reta... |
ORPHA:281 |
| Achondroplasia |
|
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Femoral bowing, Limited elbo... |
OMIM:100800 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Disproportionate short-limb short stature, Bowing of limbs due to multiple fractures, Decreased c... |
OMIM:259410 |
| Scholte Syndrome |
|
Small hand, Patellar hypoplasia, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Short foot,... |
OMIM:300977 |
| Marshall-Smith Syndrome |
|
Slender long bone, Reduced bone mineral density, Increased susceptibility to fractures, Joint hyp... |
ORPHA:561 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo... |
ORPHA:536471 |
| Silver-Russell Syndrome 2 |
|
Intrauterine growth retardation, Micrognathia, 2-3 toe syndactyly, Short stature, Clinodactyly of... |
OMIM:618905 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Short toe, Patellar hypoplasia, Decreased muscle mass, Hyperextensibility of the finger joints, L... |
ORPHA:3041 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Hypertrophic cardiomyopathy, Congestive heart failure, Loss of facia... |
ORPHA:79083 |
| Hypochondroplasia |
|
Disproportionate short-limb short stature, Flared metaphysis, Lumbar hyperlordosis, Trident hand,... |
OMIM:146000 |
| Atelosteogenesis Type I |
|
Platyspondyly, Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes e... |
ORPHA:1190 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Disproportionate short stature, Flared metaphysis, Small epiphyses, Femora... |
ORPHA:93356 |
| Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Fe... |
OMIM:602080 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Distal amyotrophy, Clinodactyly, Lower limb muscle weakness, Pes cavus, Kyphoscoliosis, Ankle clo... |
OMIM:275900 |
| Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta, Osteopenia, Femoral bowing, Biconcave flattened vertebrae, Increased s... |
OMIM:166200 |
| Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... |
ORPHA:166011 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Melanocytic nevus, Reduced subcutaneous adipose tissue, Kyphoscoliosis, ... |
OMIM:612079 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... |
OMIM:603546 |
| Carpenter Syndrome |
|
Toe syndactyly, Broad thumb, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... |
ORPHA:65759 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Joint hypermobility,... |
ORPHA:230839 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Reduced bone mineral density, Inguinal hernia, Brachydactyly, Short stature, Short femoral neck, ... |
OMIM:618392 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis |
OMIM:166260 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
2-3 toe cutaneous syndactyly, Broad thumb, Deep plantar creases, Scoliosis, Thin skin |
OMIM:617364 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
| Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Hypoplastic ilia, Micromelia, Lethal short-limbed short stature, Joint stiffness, ... |
ORPHA:1860 |
| Joubert Syndrome 18 |
|
Intrauterine growth retardation, Trident pelvis, Kyphoscoliosis, Postaxial polydactyly, Bowing of... |
OMIM:614815 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Osteogenesis Imperfecta, Type Xvii |
|
Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Decreased muscle mass, Recurr... |
OMIM:616507 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal fingertip morphology, Short distal phalanx of finger, Dermal atrophy, Generalized lipody... |
ORPHA:90154 |
| Premature Aging Syndrome, Penttinen Type |
|
Short distal phalanx of finger, Keloids, Slender long bone, Dermal atrophy, Hyperextensibility of... |
OMIM:601812 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
| Weismann-Netter Syndrome |
|
Severe short stature, Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hypero... |
OMIM:112350 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascular necrosis of th... |
OMIM:184100 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Congenital hip dislocation, Distal amyotrophy, Umbilical hernia, Intrauterine growth retardation,... |
OMIM:219150 |
| Odontochondrodysplasia 1 |
|
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... |
OMIM:184260 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Pes cavus, Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis |
OMIM:271200 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Congenital knee ... |
OMIM:130060 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Finger syndactyly, Dermal atrophy, Congenital diaphragmatic hernia, Hernia, Subcu... |
ORPHA:2092 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... |
ORPHA:1145 |
| Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Triphalangeal thumb, Aplasia cutis congenita, Short thumb, Pes planus |
ORPHA:79499 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Ulnar claw, Distal amyotrophy, Pes cavus, Limb muscle weakness, Foot dorsiflexor weakness, Kyphos... |
OMIM:118220 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Disproportionate short-limb short stature, Metaphyseal spurs, Micromelia, Irregula... |
OMIM:608728 |
| Aplasia Cutis Congenita |
|
Toe syndactyly, Skin ulcer, Finger syndactyly, Aplasia cutis congenita, Aplasia cutis congenita o... |
ORPHA:1114 |
| Atelosteogenesis, Type I |
|
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Short neck, Aplasia/H... |
OMIM:108720 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba... |
OMIM:156550 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... |
OMIM:612447 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Micrognathia, Dumbbell-shaped long ... |
ORPHA:440354 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Dermal atrophy, Type E brachydactyly |
OMIM:133690 |
| Warburg Micro Syndrome 1 |
|
Overlapping toe, Micrognathia, Kyphoscoliosis, Joint hypermobility, Short stature, Osteoporosis |
OMIM:600118 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho... |
ORPHA:93307 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Deep longitudinal plantar crease, Elbow flexion contracture, Micro... |
OMIM:214150 |
| Metatropic Dysplasia |
|
Severe short stature, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coar... |
ORPHA:2635 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Webbed neck, Minicore myopathy, Lumbar hyperlordosis,... |
OMIM:619542 |
| Ck Syndrome |
|
Microretrognathia, Lumbar hyperlordosis, Kyphoscoliosis, Joint hypermobility, Long toe, Long fingers |
ORPHA:251383 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis |
OMIM:612913 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu... |
OMIM:271510 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Geroderma Osteodysplasticum |
|
Platyspondyly, Severe short stature, Osteopenia, Hyperextensibility of the finger joints, Femoral... |
OMIM:231070 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Hypoplastic cervical vertebrae, Lower limb asymmetry, Epiphyseal stippling, Erythematous plaque, ... |
ORPHA:35173 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Flexion contracture, Growth delay, Kyphoscoliosis |
OMIM:618006 |
| Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Congenital absence of skin of limbs, Aplasia cutis congenita |
OMIM:600360 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Ulnar claw, Distal amyotrophy, Pes cavus, Foot dorsiflexor weakness, Kyphoscoliosis, Talipes equi... |
OMIM:604563 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Skewfoot, Abnormal foot morphology, Pes cavus, Kyphoscoliosis, Distal lower limb muscle weakness,... |
ORPHA:99950 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Short femoral neck, Pathologic fracture, Postnatal growth retardation, Metaphyseal sc... |
OMIM:612199 |
| Bruck Syndrome 1 |
|
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Increased... |
OMIM:259450 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Growth delay, Bulging epiphyses, Rickets, Fibular bowing, Femora... |
OMIM:600081 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Joint hypermobility, Kyphoscoliosis |
OMIM:236660 |
| Short Syndrome |
|
Clinodactyly, Slender long bone, Radial deviation of finger, Intrauterine growth retardation, Mic... |
OMIM:269880 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... |
OMIM:618654 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Microgn... |
OMIM:614078 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Ulnar claw, Distal amyotrophy, Pes cavus, Limb muscle weakness, Foot dorsiflexor weakness, Kyphos... |
OMIM:118200 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Squared... |
ORPHA:93352 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615270 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentati... |
OMIM:277300 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Facial diplegia, Kyphoscoliosis, Pro... |
ORPHA:370980 |
| Ovarian Dysgenesis 1 |
|
Osteoporosis |
OMIM:233300 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... |
OMIM:609813 |
| Prolidase Deficiency |
|
Palmoplantar keratoderma, Skin ulcer, Abnormal hip bone morphology, Genu valgum, Micrognathia, Ar... |
ORPHA:742 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Small hand, Shallow acetabular fossae, Postnatal growth retardation, Micrognathia, Talipes equino... |
OMIM:611209 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Intrauterine growth retardation, Micrognathia, Skin dimple, Lipoatrophy, Thin skin |
ORPHA:261304 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Talipes equinovarus, Distal amyotrophy, Split hand, Kyphoscoliosis |
OMIM:607831 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short distal phalanx of finger, Limitation of joint mobility, Dermal atrophy, Aplasia/Hypoplasia ... |
ORPHA:90153 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino... |
OMIM:271640 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Pes ... |
OMIM:251450 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Distal amyotrophy, Hammertoe, Pes cavus, Kyphoscoliosis |
OMIM:180800 |
| Meier-Gorlin Syndrome 1 |
|
Joint contracture of the hand, Small hand, Cutaneous finger syndactyly, Genu valgum, Micrognathia... |
OMIM:224690 |
| Kyphomelic Dysplasia |
|
Platyspondyly, Disproportionate short stature, Limitation of joint mobility, Radial bowing, Flare... |
OMIM:211350 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Kyphoscoliosis |
OMIM:607855 |
| De Barsy Syndrome |
|
Congenital hip dislocation, Osteopenia, Decreased muscle mass, Umbilical hernia, Talipes calcaneo... |
ORPHA:2962 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Joint contracture of the hand, Pes cavus, Kyphoscoliosis, Camptodacty... |
OMIM:300280 |
| Ullrich Congenital Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Micrognathia, Short neck, Torticollis, Hip disloc... |
ORPHA:75840 |
| Arthrogryposis, Distal, Type 2A |
|
Joint contracture of the hand, Postnatal growth retardation, Hip contracture, Hernia, Talipes equ... |
OMIM:193700 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Skeletal muscle atrophy, Striae distensae, Osteoporosis, Kyphosis, Thin skin |
OMIM:219080 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Severe short stature, Short finger, Sclerosis of skull base, Hip contracture, Knee... |
OMIM:313420 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Joint contracture, Kyphoscoliosis |
OMIM:617977 |
| Pseudoprogeria Syndrome |
|
Short stature, Joint stiffness, Growth delay, Thin skin |
ORPHA:2985 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Distal amyotrophy, Upper limb muscle weakness, Pes cavus, Foot dorsiflexor weakness, Kyphoscoliosis |
OMIM:605588 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Amelia, Omphalocele, Scoliosis, Short femur |
OMIM:601357 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... |
OMIM:313400 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... |
OMIM:300554 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Elbow flexion contracture, Intrauterine growth retardation, Inguinal hernia, Pes plan... |
OMIM:614438 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Seve... |
OMIM:620639 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Platyspondyly, Epiphyseal dysplasia, Thoracolumbar kyphosis, Disproportionate short stature, Hypo... |
OMIM:617425 |
| Dysosteosclerosis |
|
Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnormal dental e... |
ORPHA:1782 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... |
OMIM:604765 |
| Intellectual Developmental Disorder, X-Linked 19 |
|
Long foot, Scoliosis, Kyphoscoliosis |
OMIM:300844 |
| Joint Laxity, Short Stature, And Myopia |
|
Cervical kyphosis, Umbilical hernia, Inguinal hernia, Kyphoscoliosis, Joint hypermobility, Talipe... |
OMIM:617662 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal ... |
OMIM:113000 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Muscular dystrophy, Pes cavus, Kyphoscoliosis, Distal lower ... |
ORPHA:459033 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Rhizomelia, Radial bowing, Flared meta... |
OMIM:602111 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Sandal gap, Intrauterine growth retardation, Congenital diaphragmatic hernia, Joint hypermobility... |
OMIM:617602 |
| Acromicric Dysplasia |
|
Severe short stature, Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short phalanx of ... |
OMIM:102370 |
| Achondrogenesis Type 2 |
|
Hypoplastic ilia, Unossified sacrum, Micromelia, Absent vertebral body mineralization, Delayed pu... |
ORPHA:93296 |
| Rahman Syndrome |
|
Camptodactyly, Talipes equinovarus, Nevus, Kyphoscoliosis |
OMIM:617537 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Slender finger, Clinodactyly, Intrauterine growth retardation, Dorsocervical fat pad, Micrognathi... |
ORPHA:391408 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Decreased fibular diameter, Postnatal growth retardation, Arachnodactyly, Long toe, L... |
OMIM:619489 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Kyphoscoliosis, Joint hypermo... |
OMIM:616470 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal cupping, Skeletal muscle atrophy, Contractures of the large joints, Short femoral nec... |
OMIM:616716 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Short stature, Scoliosis, Recu... |
OMIM:615066 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Growth delay, Nevus, Hypophosphatemic rickets, Linear nevus sebaceous, Kyphoscoliosis... |
OMIM:163200 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu valgum, Intervertebral space narrowing, Narrow vertebral interpedicular distance, Talipes eq... |
OMIM:143095 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Short stature, Hallux valgus, Kyphoscoliosis |
OMIM:615541 |
| Bruck Syndrome 2 |
|
Platyspondyly, Osteopenia, Elbow flexion contracture, Femoral bowing, Inguinal hernia, Knee flexi... |
OMIM:609220 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Hypoplastic cervical vertebrae, Knee dislocation, Small epiphyses, Joint hypermobility, Lumbar sc... |
OMIM:620269 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Ulnar claw, Distal amyotrophy, Pes cavus, Foot dorsiflexor weakness, Kyphoscoliosis, Distal lower... |
OMIM:145900 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmetry, Growth delay, Osteom... |
ORPHA:289176 |
| Bruck Syndrome |
|
Platyspondyly, Joint stiffness, Recurrent fractures, Bowing of the long bones, Talipes equinovaru... |
ORPHA:2771 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Limb muscle weakness, Kyphoscoliosis, Split hand, Facial palsy, Scoliosis, Generalized amyotrophy |
OMIM:614707 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Umbilical hernia, Atrophic scars, Inguinal hernia, Generalized joint hypermobility, Hiatus hernia... |
OMIM:130080 |
| Microcephalic osteodysplastic primordial dwarfism, type III |
|
Severe short stature, Ulnar deviation of finger, Slender long bone, Hypoplasia of the capital fem... |
OMIM:210730 |
| Ichthyosis--Cheek--Eyebrow Syndrome |
|
Pes planus, Kyphoscoliosis |
OMIM:146720 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Intrauterine growth retardatio... |
OMIM:620494 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Growth delay, Bulging epiphyses, Rickets, Fibular bowing, Femora... |
OMIM:241530 |
| Dermatoosteolysis, Kirghizian Type |
|
Skin ulcer, Abnormal diaphysis morphology, Abnormal foot morphology, Abnormal metaphysis morpholo... |
ORPHA:1657 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Striae distensae, Osteoporosis, Kyphosis, Thin skin |
OMIM:610475 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ... |
ORPHA:1423 |
| Acrootoocular Syndrome |
|
Small hypothenar eminence, Short toe, Sandal gap, Short finger, Grayish enamel, Micrognathia, Kyp... |
ORPHA:2980 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Micrognathia, Myopathy, Arachnodactyly, Talipes equinovarus, Pes planus, Hip dislocation, Osteope... |
ORPHA:536545 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Pulmonary embolism, Skin ulcer, Thin skin |
ORPHA:743 |
| Smith-Mccort Dysplasia 1 |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... |
OMIM:607326 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpa... |
OMIM:619638 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Intrauterine growth retardation, Micrognathia, Kyphoscoliosis, Rocker bo... |
OMIM:610756 |
| Glass Syndrome |
|
Micrognathia, Facial hypotonia, Inguinal hernia, Arachnodactyly, Talipes equinovarus, Camptodacty... |
OMIM:612313 |
| Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Micrognathia, Bowing of the long bones, Abnormal metacarpal morph... |
ORPHA:628 |
| Idiopathic Hypercalciuria |
|
Osteoporosis, Osteopenia |
ORPHA:2197 |
| Ruvalcaba Syndrome |
|
Small hand, Micromelia, Limited elbow extension, Inguinal hernia, Short phalanx of finger, Short ... |
OMIM:180870 |
| Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Limb muscle weakness, Shor... |
ORPHA:239 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Radial deviation of finger, Elbow flexion contracture, Micrognathia, Limited elbow extension, Kyp... |
OMIM:272430 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... |
OMIM:618052 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Elbow flexion contract... |
OMIM:151050 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Calf muscle hypertrophy, Pes cavus, Skeletal muscle atrophy, Kyphoscoliosis |
ORPHA:101081 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Pulmonary embolism, Thin skin |
ORPHA:745 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Growth delay, Bulging epiphyses, ... |
OMIM:264700 |
| Dermoodontodysplasia |
|
Thin skin |
OMIM:125640 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Distal amyotrophy, Kyphoscoliosis |
OMIM:619099 |
| 19P13.3 Microduplication Syndrome |
|
Clinodactyly, Intrauterine growth retardation, Micrognathia, Pes cavus, Kyphoscoliosis, Long fing... |
ORPHA:447980 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Growth delay, Bulging epiphyses, ... |
OMIM:277440 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... |
ORPHA:93315 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti... |
ORPHA:93346 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Cellulitis, Micrognathia, Arachnodactyly, Ventral hernia, Pes planus, Hip dislocation, Osteopenia... |
ORPHA:536532 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Hypoplastic iliac wing, Postnatal growth retardation, Carpal bon... |
OMIM:611717 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Rhizomelic arm shortening, Short lower limbs, Abnormal fibular epiphysis morphology, Kyphoscoliosis |
ORPHA:96190 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Mesomelia, Short distal phalanx of finger, Broad thumb, Clinodactyly, Umbilical hernia, Micrognat... |
OMIM:616331 |
| Stuve-Wiedemann Syndrome 2 |
|
Intrauterine growth retardation, Bowing of the long bones, Short long bone, Camptodactyly, Scoliosis |
OMIM:619751 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ... |
ORPHA:93357 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... |
OMIM:114290 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Disproportiona... |
ORPHA:168549 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Umbilical hernia, Osteolysis, Postnatal growth retardation, Joint stiffness, Diastasis recti, Kyp... |
ORPHA:423461 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Erythem... |
ORPHA:485 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Ven... |
OMIM:115197 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Webbed neck, Arthrogryposis multiplex congenita, Clinodactyly, Increased endom... |
ORPHA:178148 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Small hand, Micrognathia, Pes cavus, Kyphoscoliosis, Wrist flexion contracture, Short neck, Facia... |
OMIM:300055 |
| 19Q13.11 Microdeletion Syndrome |
|
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Intrauterine gro... |
ORPHA:217346 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Fractured rib, Metaphyseal spurs, Umbilical hernia, Femoral bowing, Inguinal hernia, ... |
OMIM:618188 |
| Larsen-Like Syndrome |
|
Radial deviation of the 4th finger, Kyphoscoliosis, Joint hypermobility, Talipes equinovarus, Bip... |
OMIM:608545 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Platyspondyly, Metaphyseal irregularity, Scoliosis, Short iliac bones, Rheumatoid arthritis, Juve... |
OMIM:607944 |
| Osteogenesis Imperfecta, Type Xxii |
|
Multiple small vertebral fractures, Dentinogenesis imperfecta, Slender long bone, Intrauterine gr... |
OMIM:619795 |
| Spondyloperipheral Dysplasia |
|
Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala... |
OMIM:271700 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Clinodactyly, Kyphoscoliosis, Talipes equinovarus, Brachydactyly, Camptodactyly, Macroglossia, Sc... |
OMIM:616354 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot... |
OMIM:250420 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Platyspondyly, Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ... |
OMIM:215150 |
| Langer Mesomelic Dysplasia |
|
Severe short stature, Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Dispr... |
ORPHA:2632 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Thoracic platyspondyly, Increased intervertebral space, Sho... |
OMIM:618961 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... |
OMIM:615297 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... |
ORPHA:3409 |
| Adams-Oliver Syndrome 3 |
|
Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Aplasia cutis congenita, Short... |
OMIM:614814 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Broad thumb, Thin skin, Prominent fingertip pads, Prominent crus of helix, Joint hypermobility, T... |
OMIM:617804 |
| Dysosteosclerosis |
|
Absent paranasal sinuses, Sclerosis of hand bone, Dermal atrophy, Micrognathia, Increased interve... |
OMIM:224300 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Dermal atrophy, Milia, Erythematous plaque, Abnormality of the lower limb, Palmoplantar hyperkera... |
ORPHA:158673 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Abnormal vertebral morphology, Intrauterine growth retardation, Increased vertebral height, Micro... |
OMIM:616817 |
| Achondroplasia |
|
Flat acetabular roof, Disproportionate short stature, Cervical spinal canal stenosis, Limited elb... |
ORPHA:15 |
| Frank-Ter Haar Syndrome |
|
Micrognathia, Anterior concavity of thoracic vertebrae, Bowing of the long bones, Talipes equinov... |
OMIM:249420 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Narrow vertebral interpedicular distance, Short neck, Genu varum... |
OMIM:602557 |
| 13Q12.3 Microdeletion Syndrome |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia, Kyphoscoliosis, Hip dysplasia, ... |
ORPHA:412035 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Striae distensae, Biconcave vertebral bodies, Osteoporosis, Vertebral co... |
OMIM:219090 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoi... |
OMIM:151210 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pelvic girdle bone morphology, Rhizomelia, Postnatal growth retardation, Punctate verteb... |
OMIM:302960 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, Short neck, Co... |
OMIM:266920 |
| Dent Disease 1 |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... |
OMIM:300009 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Platyspondyly, Metaphyseal irregularity, Short femoral neck, Knee dislocation, Joint hypermobilit... |
OMIM:618395 |
| Danon Disease |
|
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... |
OMIM:300257 |
| Arthrogryposis, Distal, Type 4 |
|
Osteopenia, Camptodactyly of 2nd-5th fingers, Equinovarus deformity, Deviation of the 2nd toe, Fi... |
OMIM:609128 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Recurrent fr... |
OMIM:259440 |
| Recon Progeroid Syndrome |
|
Skeletal muscle atrophy, Growth delay, Long thumb, Joint hypermobility, Arachnodactyly, Short sta... |
OMIM:620370 |
| Coffin-Siris Syndrome 6 |
|
Clinodactyly, Micrognathia, Kyphoscoliosis, Brachydactyly, Short stature, Diaphragmatic eventration |
OMIM:617808 |
| Congenital Contractural Arachnodactyly |
|
Congenital contracture, Congenital kyphoscoliosis, Arthrogryposis multiplex congenita, Camptodact... |
ORPHA:115 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Metaphyseal irregularity, Abnormal pelvic girdle bone morphology, R... |
OMIM:307800 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Progressive congenital scoliosis, Platyspondyly, Congenital hip dislocation, Osteopenia, Mollusco... |
OMIM:225400 |
| Stickler Syndrome, Type Iv |
|
Platyspondyly, Epiphyseal dysplasia, Short femoral neck, Hypoplastic iliac wing, Irregular femora... |
OMIM:614134 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Striae distensae, Osteoporosis, Kyphosis, Thin skin |
OMIM:610489 |
| Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Rhizomelia, Kyphosis, Abnormal form of the vertebral bodies, Abno... |
ORPHA:3098 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Osteopenia, Severe short stature, Femoral bowing, Osteoporosis, Scoliosis, Recurre... |
OMIM:126550 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Genu recurvatum, Pes cavus, Kyphoscoliosis, Talipes equinovarus, Split hand, Short stature, Acute... |
OMIM:604168 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... |
OMIM:616201 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Webbed neck, Decreased muscle mass, Long hallux, Kyphoscoliosis, Talipes equinovarus, Short neck,... |
OMIM:309583 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
| Catel-Manzke Syndrome |
|
Hyperphalangy of the 2nd finger, Short toe, Umbilical hernia, Ulnar deviation of the 2nd finger, ... |
OMIM:616145 |
| Foxg1 Syndrome |
|
Short stature, Severe postnatal growth retardation, Scoliosis, Kyphoscoliosis |
ORPHA:561854 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Generalized osteoporosis, Limitation of joint mobility, Inguinal hernia, Biconcave vertebral bodi... |
OMIM:236200 |
| Arterial Tortuosity Syndrome |
|
Rocker bottom foot, Avascular necrosis of the capital femoral epiphysis, Inguinal hernia, Joint h... |
ORPHA:3342 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Osteopenia, Short 1st metac... |
OMIM:620076 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Distal amyotrophy, Pes cavus, Claw hand deformity, Kyphoscoliosis, Talipes cavus equinovarus, Ham... |
OMIM:601455 |
| Ane Syndrome |
|
Multiple joint contractures, Kyphoscoliosis, Delayed puberty, Ulnar deviation of the hand, Short ... |
ORPHA:157954 |
| Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Hypoplastic pilosebaceous units, Atrophic scars, Periauricular skin pits, ... |
ORPHA:79100 |
| Czech Dysplasia |
|
Platyspondyly, Limitation of joint mobility, Short toe, Short femoral neck, Thoracic kyphosis, In... |
OMIM:609162 |
| Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove... |
OMIM:304120 |
| Acromesomelic Dysplasia 2C |
|
Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia... |
OMIM:201250 |
| Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Wide anterior fontanel, Neonatal short-limb short stature, Disproporti... |
OMIM:259420 |
| Arthrogryposis Multiplex Congenita 5 |
|
Hand clenching, Arthrogryposis multiplex congenita, Micrognathia, Talipes equinovarus, Short neck... |
OMIM:618947 |
| Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Di... |
OMIM:253200 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Ulnar claw, Distal amyotrophy, Hammertoe, Kyphoscoliosis |
OMIM:214400 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Pes cavus, Foot dorsiflexor weakness, Kyphoscoliosis,... |
OMIM:619574 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Disproportionate short-limb short stature, Short femoral neck, Flared metaphysis, Short palm, Equ... |
ORPHA:2502 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Disproportionate short-trunk short stature,... |
OMIM:300106 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Intrauterine growth retardation, Kyphoscoliosis, Limb undergrowth, Joint contracture,... |
OMIM:618005 |
| Arterial Tortuosity Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Umbilical hernia, Ischemic ... |
OMIM:208050 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Broad foot, Short neck, Pes plan... |
OMIM:615777 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Platyspondyly, Osteopenia, Proximal femoral epiphysiolysis, Short femoral neck, Overlapping toe, ... |
OMIM:616723 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Severe short stature, Joint contracture of the hand, Neonatal short-limb short stature, Limitatio... |
OMIM:224400 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tip-toe gait, L... |
ORPHA:268 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ... |
OMIM:259770 |
| Autosomal Recessive Spastic Paraplegia Type 23 |
|
Multiple lentigines, Short stature, Hip dislocation, Kyphoscoliosis |
ORPHA:101003 |
| Dermoodontodysplasia |
|
Melanocytic nevus, Thin skin |
ORPHA:1660 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Long foot, Abnormal odontoid process morphology, Genu valgum, Delayed pubic bone ossification, Me... |
ORPHA:2976 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Kyphoscoliosis |
OMIM:117850 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Distal amyotrophy, Kyphosis, Limitation of joint mobility, Clinodactyly of the 5th finger, Scolio... |
ORPHA:3454 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Dysplastic sacrum, Wide distal ... |
OMIM:613320 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
| Otopalatodigital Syndrome, Type I |
|
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... |
OMIM:311300 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula, Elbow fle... |
OMIM:200980 |
| Anauxetic Dysplasia 3 |
|
Platyspondyly, Broad middle phalanx of finger, Metaphyseal cupping, Severe short stature, Short m... |
OMIM:618853 |
| Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Kyphoscoliosis, Ankle clonus, Pes valgus, Pes planus, Limb hypertonia, S... |
ORPHA:59 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... |
ORPHA:2041 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Sandal gap, Short tibia, Butterfly vertebrae, Short humerus, Short ribs, Talipes equi... |
OMIM:607143 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Osteomalacia, Postnatal ... |
ORPHA:289157 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Small hand, Rocker bottom foot, Microretrognathia, Clinodactyly, Overlapping toe, Intrauterine gr... |
ORPHA:488642 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... |
ORPHA:3092 |
| Schneckenbecken Dysplasia |
|
