| 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 |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Moderately sho... |
ORPHA:157965 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, Short phalanx of finger, Dislocated radial head, Joint... |
OMIM:612350 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
| Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Inguinal hernia, Severe short stature, Abnormality of subcutaneous fat tissue, Femoral hernia, Sc... |
ORPHA:1899 |
| Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Severe short stature, Rhizomelia, Wid... |
OMIM:619598 |
| Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short... |
OMIM:271630 |
| Dysspondyloenchondromatosis |
|
Short stature, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Ab... |
ORPHA:85198 |
| Mazabraud Syndrome |
|
Fibrous dysplasia of the bones, Recurrent fractures |
ORPHA:57782 |
| Acrogeria |
|
Aplasia/Hypoplasia of the skin, Short stature, Lipoatrophy, Micrognathia, Small hand, Skin ulcer,... |
ORPHA:2500 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebr... |
OMIM:616583 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... |
OMIM:620386 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... |
OMIM:600121 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Micrognathia, Irregular vertebral endplates, Knee dislocation, Amelogenesis imperfecta, Microretr... |
OMIM:618363 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Parastremmatic Dwarfism |
|
Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v... |
OMIM:168400 |
| Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... |
OMIM:208230 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvis, Narrow greater... |
OMIM:184252 |
| Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Pes planus, Severe short stature, Recurrent fractures, Talipes, Oste... |
ORPHA:2078 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Long toe, Skeletal muscle atrophy, Pes planus, Arachnodactyly, Short stature, Kyphosc... |
ORPHA:75496 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Autosomal Dominant Brachyolmia |
|
Short stature, Kyphoscoliosis, Increased vertebral height, Platyspondyly, Abnormal metaphysis mor... |
ORPHA:93304 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Abnorm... |
ORPHA:94068 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... |
OMIM:250460 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Micrognathia, Coxa vara, Hernia, Abnormality of subcutaneous fat tissue, Osteomalacia... |
ORPHA:1901 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Short stature, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal b... |
OMIM:600384 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex... |
OMIM:184255 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Kyphoscoliosis, Osteopo... |
OMIM:614727 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Severe short stature, Pes planus, Ovoid vertebral bodies,... |
OMIM:132400 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... |
ORPHA:536516 |
| Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Decreased muscle mass, Short stature, Broad hallux, Kyphoscoliosis, Hypermobility of interphalang... |
ORPHA:3433 |
| Juvenile Hyaline Fibromatosis |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Joint ... |
ORPHA:2028 |
| Hyperekplexia 4 |
|
Inguinal hernia, Kyphoscoliosis, Flexion contracture, Distal arthrogryposis, Talipes equinovarus,... |
OMIM:618011 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, ... |
OMIM:612847 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Skeletal muscle atrophy, Pes planus, Kyphoscoliosis, Myopathy, Atrophic scars, Hernia... |
ORPHA:300179 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Proteus Syndrome |
|
Epidermal nevus, Kyphoscoliosis, Mandibular hyperostosis, Spinal canal stenosis, Multiple lipomas... |
OMIM:176920 |
| Nemaline Myopathy 7 |
|
Pes planus, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Fatty replacement of skeletal ... |
OMIM:610687 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the... |
OMIM:255800 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy, Type E brachydactyly |
ORPHA:1962 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Kyphosc... |
OMIM:215100 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyse... |
OMIM:112250 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... |
ORPHA:99642 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Kyphoscoliosis, Ankle flex... |
OMIM:616668 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones |
ORPHA:53697 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Short sta... |
OMIM:147891 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ... |
OMIM:607078 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o... |
OMIM:166210 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Kyphoscoliosis, Short neck, Micrognathia, Hamstring contractures, Patellar dislocation, Intrauter... |
ORPHA:96183 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... |
OMIM:136300 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial o... |
OMIM:610915 |
| Fetal Encasement Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Upper limb undergrowth, Thin skin, Lower limb under... |
OMIM:613630 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Kypho... |
OMIM:618484 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... |
ORPHA:93316 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Short stat... |
OMIM:609324 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
| Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Congenital hip dislocation, Short neck, Micrognathia, Knee flexion contrac... |
OMIM:114300 |
| Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... |
OMIM:609285 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Short stature, Micrognathia, Abnormal sacrum morphology, Coxa vara,... |
ORPHA:1988 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Camptodactyly of finger, Thin skin |
ORPHA:1658 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Short stature, Flat capit... |
OMIM:226900 |
| Bethlem Myopathy 2 |
|
Scapular winging, Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocation, Myopathy, ... |
OMIM:616471 |
| Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Osteoarthritis, Metaphys... |
OMIM:177170 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615271 |
| Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Skeletal muscle atrophy, Increased bone mineral density, Arachnodactyly, Recur... |
OMIM:614856 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
| X-Linked Ehlers-Danlos Syndrome |
|
Inguinal hernia, Short stature, Joint hyperflexibility, Thin skin, Hernia, Umbilical hernia |
ORPHA:75497 |
| Periventricular Nodular Heterotopia |
|
Shoulder dislocation, Thin skin, Hernia, Scoliosis, Patellar dislocation, Joint hypermobility |
ORPHA:98892 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Dispr... |
ORPHA:40 |
| Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Short stature, Thoracolumbar kyphoscoliosi... |
OMIM:617396 |
| Richieri Costa-Da Silva Syndrome |
|
Decreased muscle mass, Short stature, Diastasis recti, Kyphoscoliosis, Short neck, Metatarsus add... |
ORPHA:3101 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Coxa vara, Abnormal shoulder morphology, Ir... |
ORPHA:1159 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Subcutaneous nodule, Metatarsal osteolysis, Campt... |
OMIM:259600 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Short stature, Camptodactyly of finger, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Adducte... |
OMIM:610758 |
| Central Core Disease |
|
Joint laxity, Pes planus, Multiple joint contractures, Congenital hip dislocation, Kyphoscoliosis... |
ORPHA:597 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Joint laxity, Inguinal hernia, Calcaneovalgus deformity, Mitral valve prola... |
OMIM:225320 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Aplasia/Hypoplasia of the skin, Lipod... |
ORPHA:2348 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Decreased fibular diameter, Multiple prenatal fracture... |
OMIM:616897 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Short stature, Kyphosco... |
OMIM:615349 |
| Winchester Syndrome |
|
Kyphosis, Subcutaneous nodule, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metaca... |
OMIM:277950 |
| Roussy-Lévy Syndrome |
|
Skeletal muscle atrophy, Kyphoscoliosis, Intrinsic hand muscle atrophy, Genu valgum, Distal amyot... |
ORPHA:3115 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Short stature, Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Skele... |
OMIM:255710 |
| Whistling Face Syndrome, Recessive Form |
|
Inguinal hernia, Shoulder flexion contracture, Kyphoscoliosis, Short neck, Micrognathia, Elbow fl... |
OMIM:277720 |
| Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Short phalanx of ... |
ORPHA:56304 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Short stature, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased intraabdominal fat, Xanthomatosis, Muscle hypertrophy of the lower extremities, Hepatom... |
ORPHA:280365 |
| Stuve-Wiedemann Syndrome 1 |
|
Short neck, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, S... |
OMIM:601559 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Pes planus, Spina... |
OMIM:600175 |
| Chst3-Related Skeletal Dysplasia |
|
Short metacarpal, Rhizomelia, Kyphoscoliosis, Flexion contracture, Disproportionate short-trunk s... |
ORPHA:263463 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Pes planus, Inguinal hernia, Sandal gap, Recurrent shoulder dislocation, Short sta... |
ORPHA:230851 |
| Contractural Arachnodactyly, Congenital |
|
Osteopenia, Short neck, Micrognathia, Knee flexion contracture, Wrist flexion contracture, Arachn... |
OMIM:121050 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Short stature, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid pr... |
OMIM:300232 |
| Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Short neck, Hypopla... |
ORPHA:93333 |
| Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Lumbar hyperlordosis, Kyphoscoliosis,... |
OMIM:184253 |
| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ... |
ORPHA:536467 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Joint laxity, Mitral valve prolapse, Atypical scarring of skin, Thin skin, Striae distensae |
OMIM:225310 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Short stature, Micrognathia, Wide anterior fontanel, Fibular h... |
OMIM:201170 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotrophy, Knee flexion cont... |
ORPHA:496689 |
| Scholte Syndrome |
|
Reduced subcutaneous adipose tissue, Kyphoscoliosis, Acromicria, Small hand, Patellar hypoplasia,... |
OMIM:300977 |
| Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis... |
OMIM:610968 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Decreased calvarial ossification, Disproportionate short-limb short ... |
OMIM:259410 |
| Familial Cervical Artery Dissection |
|
Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, ... |
ORPHA:36382 |
| Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Inguinal hernia, Short stature, Recurrent fractures, Short ... |
ORPHA:281 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m... |
ORPHA:561 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Generalized joint laxity, Patellar hyp... |
OMIM:609325 |
| Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
| Silver-Russell Syndrome 2 |
|
Short stature, Micrognathia, 2-3 toe syndactyly, Thin skin, Clinodactyly of the 5th finger, Intra... |
OMIM:618905 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Short stature, Rhizomelia, Thora... |
OMIM:613848 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Aplasi... |
ORPHA:79083 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... |
ORPHA:370980 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Decreased muscle ma... |
ORPHA:3041 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Numerous nevi, Multiple joint contractures, Micrognathia, Generalized joint laxity, F... |
ORPHA:536471 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Joint hyperflexibili... |
ORPHA:230839 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Disproportionate short stature, Flattened epiphysis, Tibi... |
ORPHA:93356 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Pes cavus, Ulnar deviation of the hand, Short stature, Kyphoscoliosis, Flexion contracture, Hyper... |
OMIM:275900 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Ulnar deviation of the hand, Limb j... |
OMIM:612079 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Aplasia/Hypoplasia of the clavicles, Short stature, Abnormal fingertip morphology, Mi... |
ORPHA:90154 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Postaxial hand p... |
ORPHA:65759 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract... |
OMIM:166200 |
| Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Short stature, Kyphosis, Reduced bone mineral density, Delayed ossification of c... |
OMIM:618392 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
2-3 toe cutaneous syndactyly, Deep plantar creases, Thin skin, Scoliosis, Broad thumb |
OMIM:617364 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Short stature, Kyphoscol... |
OMIM:616507 |
| Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Ta... |
OMIM:614815 |
| Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... |
OMIM:259450 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li... |
OMIM:147750 |
| Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... |
OMIM:112350 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e... |
OMIM:146000 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Facial palsy, Skin ulcer, Congenital localized absence of skin... |
ORPHA:1114 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Lipoatrophy, Recurrent fractures, Micrognathia, Hyperextensibility of the knee, Sk... |
OMIM:601812 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... |
OMIM:118651 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Pes cavus, Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy |
OMIM:271200 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Congenital hip dislocation, Short stature, Hip dislocation, Distal amyotrophy, U... |
OMIM:219150 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Severe short st... |
OMIM:231070 |
| Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... |
OMIM:184260 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Subcutaneous nodule, Hernia, Macule, Finger syndactyly, Aplasia/... |
ORPHA:2092 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Kyphoscoliosis, Split hand, Hammertoe, Distal amyotrophy, Ulnar claw, Limb muscle weakness, Pes c... |
OMIM:118220 |
| Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Pes planus, Short thumb, Triphalangeal thumb, Aplasia cutis congenita |
ORPHA:79499 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... |
OMIM:608728 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp... |
OMIM:612447 |
| Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... |
OMIM:108720 |
| Metatropic Dysplasia |
|
Severe short stature, Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromeli... |
ORPHA:2635 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Kyphoscoliosis, Coxa valga, Micrognathia, Flexion contracture, Osteoporosis, ... |
OMIM:214150 |
| Warburg Micro Syndrome 1 |
|
Overlapping toe, Short stature, Kyphoscoliosis, Micrognathia, Osteoporosis, Joint hypermobility |
OMIM:600118 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... |
ORPHA:93307 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Kypho... |
OMIM:607855 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Dermal atrophy, Type E brachydactyly |
OMIM:133690 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Postnatal growth reta... |
OMIM:612199 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly |
OMIM:612913 |
| Kniest Dysplasia |
|
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collage... |
OMIM:156550 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Short stature, Kyphoscoliosis, Low... |
ORPHA:35173 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Growth delay, Flexion contracture, Kyphoscoliosis |
OMIM:618006 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Kyphoscoliosis, Split hand, Hammertoe, Distal amyotrophy, Talipes equinovarus, Ulnar claw, Pes ca... |
OMIM:604563 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Kyphoscoliosis, Abnormal foot morphology, Split hand, Upper limb amyotrophy, Hammertoe, Skewfoot,... |
ORPHA:99950 |
| Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Ck Syndrome |
|
Long toe, Microretrognathia, Lumbar hyperlordosis, Kyphoscoliosis, Long fingers, Joint hypermobility |
ORPHA:251383 |
| King-Denborough Syndrome |
|
Muscle fiber atrophy, Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Short neck, Centrally ... |
OMIM:619542 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... |
OMIM:271510 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:600081 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Joint laxity, Thoracolumbar kyphosis, Kyphoscoliosis |
OMIM:236660 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Short stature, Abnormal odont... |
OMIM:277300 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Kyphoscoliosis, Split hand, Hammertoe, Distal amyotrophy, Ulnar claw, Limb muscle weakness, Pes c... |
OMIM:118200 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Short stature, Intervertebral space narrowing, Micrognathia, ... |
OMIM:614078 |
| Short Syndrome |
|
Joint laxity, Enlarged epiphyses, Inguinal hernia, Lipodystrophy, Lipoatrophy, Micrognathia, Abse... |
OMIM:269880 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Distal amyotrophy, Split hand, Talipes equinovarus, Kyphoscoliosis |
OMIM:607831 |
| Ovarian Dysgenesis 1 |
|
Osteoporosis |
OMIM:233300 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Pes cavus, Hammertoe, Distal amyotrophy, Kyphoscoliosis |
OMIM:180800 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Short stature, Flexion contracture, Limitation of joint mobi... |
ORPHA:90153 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Lipoatrophy, Micrognathia, Skin dimple, Thin skin, Intrauterine growth retardation |
ORPHA:261304 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
| Prolidase Deficiency |
|
Aplasia/Hypoplasia of the skin, Arachnodactyly, Micrognathia, Skin ulcer, Genu valgum, Reduced bo... |
ORPHA:742 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Flexion contracture, Flat glenoid fossa, Hemivertebrae, Cutaneous ... |
OMIM:224690 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ... |
OMIM:271640 |
| Arthrogryposis, Distal, Type 2A |
|
Short neck, Knee flexion contracture, Hernia, Spina bifida occulta, Wrist flexion contracture, Ul... |
OMIM:193700 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Vertebral segmentation defect, Short st... |
OMIM:611209 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Short neck, Micrognathia, Flexion contracture, Hyperextensibility at wrists, Knee flexion contrac... |
ORPHA:75840 |
| Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ... |
OMIM:251450 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Left ventricular hypertrophy, Limited elbow movement, ... |
OMIM:300280 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Joint contracture, Kyphoscoliosis |
OMIM:617977 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Short femur, Foot oligodactyly, Scoliosis, Amelia |
OMIM:601357 |
| Pseudoprogeria Syndrome |
|
Growth delay, Short stature, Thin skin, Joint stiffness |
ORPHA:2985 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Skeletal muscle atrophy, Kyphosis, Osteoporosis, Thin skin, Striae distensae |
OMIM:219080 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o... |
OMIM:313400 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Kyphoscoliosis, Upper limb muscle weakness, Distal amyotrophy, Pes cavus, Foot dorsiflexor weakness |
OMIM:605588 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco... |
OMIM:313420 |
| De Barsy Syndrome |
|
Osteopenia, Inguinal hernia, Congenital hip dislocation, Short stature, Lipodystrophy, Kyphoscoli... |
ORPHA:2962 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Short stature, Recurrent fractures, Osteomalacia, B... |
OMIM:300554 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Pes planus, Inguinal hernia, Flexion contracture, Osteoporosis, Elbow flexion contrac... |
OMIM:614438 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Coxa valga, Disproportionate short s... |
OMIM:617425 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Aplasia/Hypoplasia of the skin, Short ... |
ORPHA:1782 |
| Intellectual Developmental Disorder, X-Linked 19 |
|
Long foot, Scoliosis, Kyphoscoliosis |
OMIM:300844 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me... |
OMIM:602111 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Nevus sebaceous, Abnormal toe mor... |
OMIM:163200 |
| Joint Laxity, Short Stature, And Myopia |
|
Inguinal hernia, Short stature, Cervical kyphosis, Kyphoscoliosis, Talipes equinovarus, Umbilical... |
OMIM:617662 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Pes planus, Arachnodactyly, Sandal gap, Short stature, Congenital diaphragmatic hernia, Kyphosis,... |
OMIM:617602 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Facial palsy, Kyphoscoliosis, Split hand, Generalized amyotrophy, Scoliosis, Limb muscle weakness |
OMIM:614707 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Short stature, Kyphoscoliosis |
OMIM:615541 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... |
OMIM:616470 |
| Acromicric Dysplasia |
|
Short metacarpal, Severe short stature, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot... |
OMIM:102370 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... |
OMIM:618019 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth... |
OMIM:619489 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Dorsocervical fat pad, Down-sloping shoulders, Proportionate short stature, Deviati... |
ORPHA:391408 |
| Rahman Syndrome |
|
Talipes equinovarus, Nevus, Kyphoscoliosis, Camptodactyly |
OMIM:617537 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Short stature, Recurrent fractures, Femoral bowing, Increased susceptibility to fract... |
OMIM:615066 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, Irregular... |
OMIM:143095 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Pes planus, Kyphoscoliosis, Split hand, Hammertoe, Distal amyotrophy, Scoliosis, Ulnar claw, Dist... |
OMIM:145900 |
| Bruck Syndrome 2 |
|
Osteopenia, Inguinal hernia, Short stature, Flexion contracture, Elbow flexion contracture, Knee ... |
OMIM:609220 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Short stature, Coxa valga, Advanced ossification of carpal bones, Knee dislocation,... |
OMIM:620269 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe short stature, Talipes, Severe generalized osteoporosis, Kyphoscoliosis, ... |
OMIM:210730 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Joint laxity, Inguinal hernia, Arachnodactyly, Hiatus hernia, Generalized joint laxity, Atrophic ... |
OMIM:130080 |
| Bruck Syndrome |
|
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... |
ORPHA:2771 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Short stature, Skel... |
OMIM:616716 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... |
ORPHA:93296 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Kyphoscoliosis, Abnormal toe morphology, Muscular dystrophy,... |
ORPHA:459033 |
| Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Tarsal synostosis, Abnormal foot morphology, Osteoarthritis, Oste... |
ORPHA:1657 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:241530 |
| Ichthyosis--Cheek--Eyebrow Syndrome |
|
Pes planus, Kyphoscoliosis |
OMIM:146720 |
| Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Short st... |
ORPHA:2980 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow... |
ORPHA:1423 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Micrognathia, Knee dislocation, ... |
ORPHA:536545 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short... |
OMIM:619638 |
| Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Iliac crest serration, Short s... |
OMIM:607326 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Rocker bottom foot, Camptodactyly of finger, Kyphoscoliosis, Micrognathia, Growth delay, Intraute... |
OMIM:610756 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis, Thin skin, Striae distensae |
OMIM:610475 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Pulmonary embolism |
ORPHA:743 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Pes cavus, Kyphoscoliosis |
ORPHA:101081 |
| Glass Syndrome |
|
Inguinal hernia, Short stature, Arachnodactyly, Anterior tibial bowing, Facial hypotonia, Microgn... |
OMIM:612313 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Inguinal hernia, Short stature, Micromelia, Kyphosis, Limited elbow extension, ... |
OMIM:180870 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Pes planus, Facial palsy, Kyphoscoliosis, Tapered finger, Short neck, Micrognathia, Elbow flexion... |
OMIM:272430 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Inguinal hernia, Short stature... |
OMIM:151050 |
| Diastrophic Dysplasia |
|
Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting the phalanges of t... |
ORPHA:628 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:264700 |
| Dermoodontodysplasia |
|
Thin skin |
OMIM:125640 |
| 19P13.3 Microduplication Syndrome |
|
Kyphoscoliosis, Micrognathia, Long fingers, Osteoporosis, Hip dislocation, Growth delay, Hip dysp... |
ORPHA:447980 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Distal amyotrophy, Kyphoscoliosis |
OMIM:619099 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Pulmonary embolism |
ORPHA:745 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:277440 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, Hypoplastic iliac wing, Abnor... |
ORPHA:93315 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Abnormal fibular epiphysis morphology, Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis |
ORPHA:96190 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Micrognathia, Webbed ne... |
ORPHA:536532 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... |
ORPHA:93357 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... |
ORPHA:289176 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Kyphoscoliosis, Macroglossia, Talipes equinovarus, Scoliosis, Camptodactyly, Clinodactyly, Brachy... |
OMIM:616354 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Short long bone, Scoliosis, Camptodactyly, Intrauterine growth retardation |
OMIM:619751 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Facial hypotonia, Kyphoscoliosis, Short neck, Micrognathia, Flexion contracture, Small hand, Scol... |
OMIM:300055 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Aplasia cutis congenita, Growth de... |
ORPHA:217346 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... |
OMIM:224300 |
| Larsen-Like Syndrome |
|
Joint laxity, Short stature, Kyphoscoliosis, Wide anterior fontanel, Radial deviation of the 4th ... |
OMIM:608545 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Flared metaphysis, ... |
ORPHA:93346 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, En... |
OMIM:307800 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Inguinal hernia, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bowing,... |
OMIM:618188 |
| Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip... |
OMIM:619795 |
| Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla... |
ORPHA:485 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... |
OMIM:611717 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... |
ORPHA:2632 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Pes planus, Tapered finger, Prominent crus of helix, Thin skin, Scoliosis, Prominent fingertip pa... |
OMIM:617804 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Increased intervertebral space, Thoracic platyspondyly, Met... |
OMIM:618961 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures, Short neck, Microgna... |
ORPHA:3409 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Kyphosis, Osteoporosis, Thin skin, Biconcave vertebral bodies, Vertebral... |
OMIM:219090 |
| 13Q12.3 Microdeletion Syndrome |
|
Short stature, Kyphoscoliosis, Congenital diaphragmatic hernia, Hip dysplasia, Camptodactyly, Int... |
ORPHA:412035 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subp... |
ORPHA:289157 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Sacral dimple, Short stature, Kyphoscoliosis, Micrognathia, Partial duplication of... |
OMIM:616331 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Short palm, Short phalanx of ... |
OMIM:249420 |
| Adams-Oliver Syndrome 3 |
|
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Aplasia cutis congenita, Short dist... |
OMIM:614814 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Short stature, Hypermelanotic macule, Kyphoscoliosis... |
OMIM:607944 |
| Adams-Oliver Syndrome 4 |
|
Aplasia cutis congenita, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle p... |
OMIM:615297 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Short neck, Postnatal growth retardation, Kyphoscoliosis, Hemi... |
OMIM:302960 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Micrognathia, Increased ver... |
OMIM:616817 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Scoliosis, Webbed neck, Arthrogryposis multiplex conge... |
ORPHA:178148 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of... |
ORPHA:239 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Large tarsal bones, Micrognathia, Prem... |
OMIM:215150 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Short neck, Hip ... |
OMIM:618395 |
| Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Short stature, Recurrent fractures, Osteomalacia, B... |
OMIM:300009 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
| Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Torticollis, Equinovarus deformity, Kyphosis, Campto... |
OMIM:609128 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Abnormality of the knee, Abnormality of the lower limb, Palmoplantar hyperkeratosis, Erythematous... |
ORPHA:158673 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Protrusio ... |
OMIM:225400 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Short neck, Micrognathia, Short metatarsal, Clinodactyly of the 5th finger, Short pha... |
OMIM:266920 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy... |
ORPHA:2976 |
| Recon Progeroid Syndrome |
|
Joint laxity, Skeletal muscle atrophy, Short stature, Arachnodactyly, Proximal placement of thumb... |
OMIM:620370 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyl... |
OMIM:126550 |
| Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
| Coffin-Siris Syndrome 6 |
|
Short stature, Kyphoscoliosis, Micrognathia, Diaphragmatic eventration, Clinodactyly, Brachydactyly |
OMIM:617808 |
| Achondroplasia |
|
Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Dentinogenesis imperfecta, Decreased ... |
OMIM:259440 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Short stature, Acute rhabdomyolysis, Kyphoscoliosis, Genu recurvatum, Split hand, Talipes equinov... |
OMIM:604168 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis, Thin skin, Striae distensae |
OMIM:610489 |
| Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Flexion cont... |
ORPHA:115 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Neonatal short-limb short stature, Severe limb shortening, Radial bowing,... |
OMIM:151210 |
| Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... |
OMIM:601419 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Short stature, Rhizomelia, Short neck, Abnormality of the... |
ORPHA:3098 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Arachnodactyly, Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, Scol... |
OMIM:236200 |
| Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Inguinal hernia, Short neck, Postnata... |
OMIM:616145 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Short stature, Recurrent fracture... |
OMIM:309583 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Corona... |
OMIM:620076 |
| Foxg1 Syndrome |
|
Severe postnatal growth retardation, Kyphoscoliosis, Short stature, Scoliosis |
ORPHA:561854 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
| Arterial Tortuosity Syndrome |
|
Inguinal hernia, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necr... |
ORPHA:3342 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Kyphoscoliosis, Talipes cavus equinovarus, Distal amyotrophy, Hammertoe, Pes... |
OMIM:601455 |
| Ane Syndrome |
|
Multiple joint contractures, Lipoatrophy, Short stature, Kyphoscoliosis, Ulnar deviation of the h... |
ORPHA:157954 |
| Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... |
OMIM:304120 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... |
OMIM:259420 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Clubbi... |
OMIM:619574 |
| Arthrogryposis Multiplex Congenita 5 |
|
Short neck, Micrognathia, Flexion contracture, Scoliosis, Hand clenching, Umbilical hernia, 11 pa... |
OMIM:618947 |
| Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Heart block, Periauricular skin pits, Atrophic scars, Skin pit, ... |
ORPHA:79100 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Kyphoscoliosis, Hip dislocation, Limb undergrowth, Intrauterine growth... |
OMIM:618005 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Short stature, Craniosyno... |
OMIM:616723 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Ulnar claw, Hammertoe, Distal amyotrophy, Kyphoscoliosis |
OMIM:214400 |
| Parkinson-Dementia Syndrome |
|
Kyphoscoliosis |
OMIM:260540 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Limited elbow movement, ... |
ORPHA:268 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, O... |
OMIM:259770 |
| Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Genu varum, Joint la... |
OMIM:615777 |
| Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Joint laxity, Ventricular hypertrophy, Inguinal hernia, Arachnodactyly, Con... |
OMIM:208050 |
| Dermoodontodysplasia |
|
Thin skin, Melanocytic nevus |
ORPHA:1660 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Kyphoscoliosis |
OMIM:117850 |
| Autosomal Recessive Spastic Paraplegia Type 23 |
|
Kyphoscoliosis, Hip dislocation, Short stature, Multiple lentigines |
ORPHA:101003 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Anterior wedging of L1, Lumbar... |
OMIM:253200 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosi... |
ORPHA:3454 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Short neck, Microgn... |
OMIM:224400 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Short stature, Micromelia, Short neck, Wide distal femoral metaphysis, Pos... |
OMIM:613320 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Congenital diaphrag... |
OMIM:200980 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Sandal gap, Rhizomelia, Hypoplasia of the radius, Talipes equinovarus... |
OMIM:607143 |
| Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Pes planus, Short stature, Kyphoscoliosis, Flexion contracture, Ankle cl... |
ORPHA:59 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Joint laxity, Hip contracture, Microretrognathia, Overlapping toe, Rocker bottom foot, Short stat... |
ORPHA:488642 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... |
ORPHA:3092 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Micrognathia, Flexion contracture, Calcinosis, Short clavicles, Short distal phalanx ... |
OMIM:248370 |
| Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Kyphoscoliosis, Camptodactyly, Intrauterine growth retardation |
OMIM:614846 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Back pain, Localized osteoporosis, Cervical spondylosis, Kyphoscoliosis |
ORPHA:199354 |
| Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Severe short stature, Joint hypermobility, Thoraco... |
OMIM:618853 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... |
OMIM:614096 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Kyphoscoliosis |
OMIM:301107 |
| Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Kyphoscoliosis, Micrognathia, Postnatal growth retardation, Flexion contra... |
OMIM:614222 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax... |
OMIM:210710 |
| Microphthalmia, Syndromic 13 |
|
Short stature, Kyphoscoliosis |
OMIM:300915 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Pes planus, Inguinal hernia, Nevus flammeus, Arachnodactyly,... |
OMIM:615582 |
| Seckel Syndrome 8 |
|
Short stature, Kyphoscoliosis, Micrognathia |
OMIM:615807 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... |
OMIM:269250 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Kyphoscoliosis, Coxa valga, Micrognathia, Long fin... |
OMIM:608149 |
| Monosomy 18P |
|
Short stature, Kyphoscoliosis, Short neck, Micrognathia, Webbed neck, Brachydactyly |
ORPHA:1598 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Short stature, Re... |
ORPHA:140 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Joint contracture, Lower limb amyotrophy, Kyphoscoliosis |
OMIM:260600 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Pes planus, Aplasia/Hypoplasia of the skin, Lipodystrophy, L... |
ORPHA:1979 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Short stature, Kyphoscoliosis, Metatarsus adductus, Postnatal growth retardation,... |
OMIM:612513 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Skeletal muscle atrophy, Micrognathia, Reduced bone mineral density, Fing... |
ORPHA:79474 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Short stature, Abnormal dental enamel morphology, Coxa valga, Short nec... |
ORPHA:582 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Dislocated radial head, Joint laxit... |
OMIM:102500 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Patellar hypoplasia, Short phalanx of finger, Genu varum, Calcinosis, Short metacarpa... |
ORPHA:221016 |
| Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin |
ORPHA:735 |
| Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... |
OMIM:614302 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Inguinal hernia, Decreased muscle mass, Cervical kyphosis, Craniosynostosis, T... |
ORPHA:2953 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Thin skin |
ORPHA:1810 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Angulated humerus, Bowing of the long bones, Microretrognathia, Short stature, Recurr... |
OMIM:616229 |
| Basal Cell Nevus Syndrome 1 |
|
Skin tags, Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Palmar pits, Plantar pits, I... |
OMIM:109400 |
| Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... |
ORPHA:860 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Stiff neck, Kyphoscoliosis |
OMIM:618230 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Calcinosis, Short stature, Abn... |
ORPHA:221008 |
| Restrictive Dermopathy 1 |
|
Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Ankylosis, Wide anterio... |
OMIM:275210 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial musculature, Incr... |
OMIM:620265 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Femo... |
OMIM:617952 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Sho... |
ORPHA:93324 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Hypopigmented skin patches, Skin ulcer... |
ORPHA:2907 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Aplasia/Hypoplasia of the skin, Short stature, Short neck, Micrognathia, Small... |
ORPHA:1787 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Scarring, Subcutaneous nodule, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule |
ORPHA:89843 |
| Emanuel Syndrome |
|
Preauricular pit, Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Inguina... |
ORPHA:96170 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Kyphoscoliosis, Short stature, 2-3 toe syndactyly, Scoliosis |
ORPHA:391307 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Genu valgum, Growth delay, Blue nevus, Joint hypermobility |
OMIM:617798 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Abnormal thumb morphology, Congestive hear... |
ORPHA:324410 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Aplasia cutis congenita, As... |
OMIM:300887 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Inguinal hernia, Arachnodactyly, Short stature, Abnormal thumb morphology, Limitation of joint mo... |
ORPHA:2719 |
| Laron Syndrome |
|
Delayed menarche, Short long bone, Severe short stature, Limb undergrowth |
OMIM:262500 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co... |
OMIM:616007 |
| Epiphyseal Dysplasia, Baumann Type |
|
Joint laxity, Epiphyseal dysplasia, Carpal bone aplasia, Pes planus, Hypoplasia of the femoral he... |
OMIM:610797 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Aplasia/Hypoplasia of th... |
ORPHA:2909 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Dysmetria, Ca... |
OMIM:256550 |
| Three M Syndrome 1 |
|
Pes planus, Scapular winging, Short stature, Short neck, Postnatal growth retardation, Increased ... |
OMIM:273750 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Kyphoscoliosis, Short neck, Postnatal growth retar... |
ORPHA:254519 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Osteogenesis Imperfecta, Type Iv |
|
Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral... |
OMIM:166220 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Metaphyseal irreg... |
OMIM:269920 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Decreased muscle mass, Micrognathia, Postnatal growth retardation, Metaphyseal widening, Abnormal... |
ORPHA:73230 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Short stature, Abnormal dental enamel morphology, Kyphoscoliosis, Atypic... |
OMIM:601701 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Short long bone, Limb undergrowth, Brachydactyly |
ORPHA:221054 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Micrognathia, Kyphosis, Osteoporosis... |
OMIM:615381 |
| Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Anterior beaking of lu... |
OMIM:253000 |
| Tatton-Brown-Rahman Syndrome |
|
Kyphoscoliosis, Proportionate short stature, Short toe, Widely spaced toes, Umbilical hernia, Joi... |
ORPHA:404443 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Kyphoscoliosis |
OMIM:616684 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Postnatal growth retar... |
OMIM:614732 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus |
OMIM:618845 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti... |
OMIM:253250 |
| Developmental And Epileptic Encephalopathy 41 |
|
Flexion contracture, Kyphoscoliosis |
OMIM:617105 |
| Congenital Myasthenic Syndrome |
|
Joint laxity, Neuropathic spinal arthropathy, Microretrognathia, Congenital hip dislocation, Kyph... |
ORPHA:590 |
| Melnick-Needles Syndrome |
|
Omphalocele, Short humerus, Pes planus, Hypoplastic scapulae, Anterior concavity of thoracic vert... |
OMIM:309350 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Joint laxity, Neuropathic spinal arthropathy, Microretrognathia, Congenital hip dislocation, Kyph... |
ORPHA:98914 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Joint laxity, Thoracic scoliosis, Torticollis, Kyphoscoliosis, Micrognathia, Metatarsus adductus,... |
ORPHA:300570 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the skin, Craniosynostosis, Abnormality ... |
ORPHA:1553 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Congestive heart failure, Splenomegaly, Dilated cardiomyop... |
OMIM:615895 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
| Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... |
ORPHA:3312 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Tibial bowing, Hypoplastic iliac wi... |
ORPHA:96334 |
| Mucopolysaccharidosis, Type Iiic |
|
Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Hernia, Beaking of vertebral bodi... |
OMIM:252930 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... |
OMIM:602535 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever... |
ORPHA:85167 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... |
OMIM:212138 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Ataxia, Cardiomegaly, Myopathy, Distal arthrogryposis, Let... |
ORPHA:42 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Abnormal fibula morphology, Thin ... |
ORPHA:1812 |
| Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Short stature, Kyphoscoliosis, Micrognathia, Partial duplication o... |
OMIM:618348 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
| Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Postnatal g... |
ORPHA:263508 |
| Dystonia-Deafness Syndrome 1 |
|
Kyphoscoliosis, Hypoplastic scapulae, Femoral retroversion |
OMIM:607371 |
| Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Sandal gap, Postnatal growth retardation, Capitate-hamate fusion, ... |
OMIM:206920 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
| Loeys-Dietz Syndrome |
|
Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Atypical sca... |
ORPHA:60030 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Preauricular pit, Tricuspid regurgitation, Ventricular septal defect, Craniosynostosis, Right bun... |
OMIM:617506 |
| Spinal Arteriovenous Metameric Syndrome |
|
Nevus flammeus, Cutaneous angiolipomas, Abnormality of the vertebral column, Kyphoscoliosis |
ORPHA:53721 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Coxa valga, Tapered finger, Postnatal growth retardation, Kyphosis, Absent fronta... |
OMIM:301040 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa... |
OMIM:212140 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Short neck, Micrognath... |
OMIM:263210 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Growth delay, Atrophic scars, Palmoplantar keratoderma, Aplasia cutis... |
ORPHA:79402 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy... |
OMIM:619048 |
| Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Joint laxity, Hyperlordosis, Hypop... |
OMIM:253010 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Micrognathia,... |
OMIM:608612 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Micrognathia, Metaph... |
OMIM:156400 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Lethargy |
OMIM:600649 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Joint laxity, Hypertension, Thin skin, Mitral valve prolapse |
ORPHA:449291 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Joint contracture, Kyphoscoliosis |
OMIM:617664 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia |
OMIM:618815 |
| Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-onset short-trunk shor... |
OMIM:113500 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
| Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Pes planus, Broad hallux, Sandal gap, Short stature, Tapered finger, Hyperlordosis,... |
OMIM:615873 |
| Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Short stature, Ovoid vertebral bodies, Micrognathia, Metatarsus adduc... |
OMIM:244450 |
| Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Congenital hip dislocation, Ankle flexion contracture, Hyperlordosis, Kyphoscoli... |
ORPHA:2020 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Kyphoscoliosis, Macroglossia, Talipes equinovarus, Camptodactyly,... |
ORPHA:397709 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Short palm, Elbow ... |
ORPHA:2658 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Pes planus, Inguinal hernia, Abnormal foot morphology, Osteoarthritis, Limitation of joint mobili... |
ORPHA:285 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Bone cyst, Knee osteoarthritis, Osteoporosis, Coxa... |
ORPHA:2848 |
| Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Macroglossia, Umbilical hernia, Bradycardia, Le... |
ORPHA:95717 |
| Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Joint stiffness, Kyphosis, Bone cyst, Skin ulcer, Dermal atrophy, Scoliosis |
ORPHA:2047 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Hypoplastic vertebral bodies, Loss of facial adipose tissue, Long toe, Short stature,... |
ORPHA:3455 |
| Episodic Ataxia Type 1 |
|
Hand clenching, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis |
ORPHA:37612 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga... |
OMIM:239850 |
| Kosaki Overgrowth Syndrome |
|
Thoracolumbar scoliosis, Xanthelasma, Thin skin, Scoliosis, Long foot |
OMIM:616592 |
| Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Skin ulcer, Melanocytic nevus, Split foot, Thin skin |
ORPHA:978 |
| Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... |
OMIM:215140 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Portal hypert... |
ORPHA:465508 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... |
OMIM:187600 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Short long bone, Polydactyly, Scoliosis, Brachydactyly |
OMIM:613819 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
| Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Micrognathia, Flexion contracture, Generalized amyotrophy, Genu varum, Long toe, Shor... |
OMIM:264090 |
| 8Q24.3 Microdeletion Syndrome |
|
Skin tags, Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Naevus flammeu... |
ORPHA:508488 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Coxa val... |
OMIM:618150 |
| Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... |
OMIM:228520 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Aplasia cutis congenita, Flexion contracture |
OMIM:612138 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Short stature, Abnormal dental enamel m... |
ORPHA:1798 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Skeletal muscle atrophy, Short femur, Flexion contracture, Ragged-red muscle fiber... |
ORPHA:17 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Severe short stature, Micromelia, Bowing of the legs, Hypoplastic ilia, Short n... |
ORPHA:1865 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Subcutaneous nodule, Kyphoscoliosis |
OMIM:618339 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
| Refsum Disease, Classic |
|
Short fourth metatarsal, Ataxia, Cardiomegaly, Congestive heart failure, Limb muscle weakness, Ca... |
OMIM:266500 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Micrognathia, Knee flexion contracture, Abnormal calc... |
OMIM:271665 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Limb joint contracture, Scarring alopecia of scalp, Atypical scarring of skin... |
ORPHA:251393 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, Short stature, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Thin skin, Ena... |
OMIM:129400 |
| Cln3 Disease |
|
Ataxia, Bradykinesia, T-wave inversion, Bradycardia, Shuffling gait, Left ventricular hypertrophy... |
ORPHA:228346 |
| Even-Plus Syndrome |
|
Epiphyseal dysplasia, Severe short stature, Short neck, Vertebral clefting, Coronal cleft vertebr... |
OMIM:616854 |
| Rhyns Syndrome |
|
Osteopenia, Radial bowing, Short stature, Osteoporosis, Short long bone, Short femoral neck, Brac... |
OMIM:602152 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
| Fibrochondrogenesis 2 |
|
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl... |
OMIM:614524 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Congenital localized absence of skin, Atrophic scars, Enamel hypoplasia, Milia |
OMIM:226700 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Pes planus, Kyphoscoliosis, Hand muscle weakness, Abnorm... |
ORPHA:99956 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Osteopenia, Joint laxity, Bicuspid aor... |
ORPHA:363705 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Short stature, Kyphoscoliosis, Micrognathia, Short thumb, Osteoporosi... |
OMIM:268400 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus, Limb hypertonia |
OMIM:620306 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Ulnar... |
OMIM:619135 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
| Focal Facial Dermal Dysplasia Type I |
|
Skin dimple, Atrophic scars, Spotty hypopigmentation, Aplasia cutis congenita |
ORPHA:79133 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Aplasia/Hypoplasia of the skin, Joint stiffness, Subcutaneous nodule, Atypical scarring of skin, ... |
ORPHA:1366 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Osteoporosis, Telangiectasia,... |
OMIM:235200 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the skin, Micrognathia, Blue nevus, Skin... |
ORPHA:1556 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Osteopenia, Tachycardia, Atrial fibrillation, Hepatomegaly, Lipodystrophy,... |
OMIM:613327 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Abnormal denta... |
ORPHA:2050 |
| Adult Syndrome |
|
Toe syndactyly, Split hand, Split foot, Thin skin, Dermal atrophy |
OMIM:103285 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2... |
OMIM:612394 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Short stature, Craniosynostosis, Irregular carpal... |
OMIM:252600 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Craniofacial hyperostosis, Macule, Telangiectasia of the skin, Ataxi... |
ORPHA:910 |
| X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Decreased muscle mass, Arachnodactyly, Recurrent fractures, Short stature, Kyphoscolios... |
ORPHA:3063 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Pes planus, Kyphoscoliosis, Atlantoaxial in... |
OMIM:614557 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Stiff neck, Torticollis, Short neck, Micrognathia, Increased var... |
OMIM:617022 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Short femur, Short stature, Talipes, Short neck, Micrognathia, Talipes equinovarus, B... |
OMIM:300990 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Lethargy, Cardiomegaly |
OMIM:619064 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Pes planus, Inguinal hernia, Congenital hip dislocation, Short stature, Lipodystrophy... |
ORPHA:2834 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Short stature, Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic... |
ORPHA:163654 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, EMG: myopathic abnormalities, Cardiomyopathy, Gai... |
OMIM:609286 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Short stature, Kyphoscoliosis |
ORPHA:3077 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
| Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated sk... |
OMIM:620351 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Marfan Syndrome |
|
Decreased muscle mass, Genu recurvatum, Equinus calcaneus, Incisional hernia, Micrognathia, Flexi... |
OMIM:154700 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Truncal ataxia, Pulm... |
OMIM:619051 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the o... |
OMIM:252500 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Postnatal growth retardation, ... |
OMIM:616294 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Short statur... |
OMIM:239000 |
| Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin, Micrognathia |
ORPHA:1214 |
| Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... |
ORPHA:615 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Limb ataxia, Gait ataxia, Cardiomy... |
OMIM:619259 |
| Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Ataxia, Gait... |
ORPHA:100 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
| Xylt1-Cdg |
|
Joint laxity, Pes planus, Short stature, Coxa valga, Flared metaphysis, Growth delay, Short long ... |
ORPHA:370930 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ... |
OMIM:615745 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Kyphoscoliosis |
OMIM:300886 |
| Oculocerebrocutaneous Syndrome |
|
Skin tags, Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the skin, Talipes... |
ORPHA:1647 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... |
OMIM:276820 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Clinodactyly of the 5th finger, Pes cavus, Growth delay, Lumbar kyphoscoliosis |
OMIM:619422 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Joint stiffness, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Dense c... |
OMIM:252920 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Inguinal hernia, Aplasia/Hypoplasia of the skin, Short stature, Camptodactyly ... |
ORPHA:2990 |
| Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m... |
ORPHA:1328 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Short stature, Kyphoscoliosis, Micrognathia, Fatty replacement of skelet... |
OMIM:255995 |
| Congenital Toxoplasmosis |
|
Macule, Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Atrial septal d... |
OMIM:245600 |
| Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalac... |
ORPHA:1652 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Clinodactyly of the 5th finger, Kyphoscoliosis |
OMIM:620075 |
| Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Short stature |
ORPHA:1643 |
| Werner Syndrome |
|
Skeletal muscle atrophy, Increased bone mineral density, Aplasia/Hypoplasia of the skin, Short st... |
ORPHA:902 |
| Geleophysic Dysplasia 1 |
|
Osteopenia, Short stature, Camptodactyly of finger, Joint stiffness, Coxa valga, Hypoplasia of th... |
OMIM:231050 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Joint hypermobility, Joint stiffness, Postnatal growth retardation, Short long ... |
OMIM:619184 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left v... |
OMIM:201475 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Clinodactyly of the 5th fi... |
OMIM:608747 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Inguinal hernia, Aplasia cutis congenita, Splenomegaly, Right atrial e... |
OMIM:616028 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... |
OMIM:606721 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Skin erosion, Growth delay, Atrophic scars, Palmoplantar keratoderma, Mitten deformity, Aplasia c... |
ORPHA:79411 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Long fingers, Atrioventricular block, Joint contracture of the 5th finger, Bradyc... |
OMIM:614407 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Cardiomegal... |
ORPHA:2463 |
| Stiff Skin Syndrome |
|
Aplasia/Hypoplasia of the skin, Lipoatrophy, Short stature, Limitation of joint mobility, Subcuta... |
ORPHA:2833 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Equinovarus deformity, Hip dysplasia, Lower limb amyotrophy, Kyphoscoliosis |
ORPHA:466722 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Kyphoscoliosis, Short neck, Tapered finger, Growth delay, Limb hypertonia |
OMIM:615803 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly |
OMIM:614702 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Palmar telangiectasia, Thin skin |
OMIM:607823 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Diffuse palmoplantar hyperkeratosis, Dermal atrophy |
OMIM:617294 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia |
OMIM:614654 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Osteomalacia,... |
ORPHA:198 |
| Superficial Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Thin skin |
ORPHA:455 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Toe syndactyly, Camptodactyly of finger, Growth delay, Thin skin, Umbilical hernia |
ORPHA:920 |
| Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Elbow flexion contracture, Osteolytic defects of the phalanges of the ... |
OMIM:618175 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
| Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Thin ... |
OMIM:200110 |
| Floating-Harbor Syndrome |
|
Joint laxity, 11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the han... |
OMIM:136140 |
| Monosomy 18Q |
|
Pes planus, Short stature, Arachnodactyly, Kyphoscoliosis, Tapered finger, Growth delay, Talipes ... |
ORPHA:1600 |
| Distal Deletion 12Q |
|
Broad hallux, Overlapping toe, Short stature, Short neck, Kyphoscoliosis, Wide anterior fontanel,... |
ORPHA:96149 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Erythematous papule, Dermal atrophy |
ORPHA:3406 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Cushing Disease |
|
Dorsocervical fat pad, Myocardial infarction, Osteoporosis, Skin ulcer, Proximal amyotrophy, Hype... |
ORPHA:96253 |
| Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Narrow vertebral interpedicular distan... |
OMIM:250250 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Knee flexion c... |
OMIM:600920 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Multiple cafe-au-lait spots, Abnormal sacroiliac joint morphology, Aplasia/Hypoplasia of the skin... |
ORPHA:1807 |
| Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Inability to walk, Quadriceps muscle weakne... |
ORPHA:70 |
| Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:409 |
| Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Hepatomegaly, Short fourth metatarsal, Multiple joint contractures, Ataxia, Brachyd... |
OMIM:618143 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Bifid femur, Increased susceptibi... |
ORPHA:2769 |
| Leopard Syndrome 1 |
|
Scapular winging, Short stature, Limited elbow movement, Short neck, Kyphoscoliosis, Missing ribs... |
OMIM:151100 |
| Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones... |
OMIM:258480 |
| Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Hypoplas... |
OMIM:119600 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Myopathy, Dermal atrophy, Skin... |
ORPHA:257 |
| 3Mc Syndrome |
|
Diastasis recti, Craniosynostosis, Hyperlordosis, Postnatal growth retardation, Hip dislocation, ... |
ORPHA:293843 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... |
ORPHA:2256 |
| Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Macroglossia, Umbilical hernia, Bradycardia, Le... |
ORPHA:95716 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Clinodactyly of the 5th finger, Microretrognathia, Kyphoscoliosis, Brachydactyly |
OMIM:620237 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Lethargy, Cardiomegaly |
OMIM:255120 |
| Osteogenesis Imperfecta, Type Xx |
|
Kyphoscoliosis, Multiple prenatal fractures, Disproportionate short-limb short stature, Intrauter... |
OMIM:618644 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Inguinal hernia, Overlapping fingers, Overlapping toe, Kyphoscoliosis, S... |
ORPHA:798 |
| Long Qt Syndrome 8 |
|
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... |
OMIM:618447 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... |
ORPHA:3103 |
| Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Pes planus, Kyphoscoliosis, Hyperlo... |
ORPHA:573278 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Short stature, Kyphoscoliosis, Bifid distal phalanx of the ... |
ORPHA:97360 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... |
ORPHA:40366 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Macule, Short stature, Kyphoscoliosis, Hyperlordosis, Micrognathia, Long foot, Abnormal tibia mor... |
ORPHA:363700 |
| Desmosterolosis |
|
Increased bone mineral density, Severe short stature, Aplasia/Hypoplasia of the skin, Talipes, Mi... |
ORPHA:35107 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Macroglossia, Bradycardia, Umbilical hernia, Absent ossification... |
ORPHA:226313 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... |
ORPHA:1517 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... |
OMIM:618652 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis... |
OMIM:207410 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnorm... |
ORPHA:2636 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
| 3Q27.3 Microdeletion Syndrome |
|
Arachnodactyly, Kyphoscoliosis |
ORPHA:397695 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Kyphoscoliosis, Hip dislocation, Hip dyspla... |
OMIM:617403 |
| Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Congenital localized absence of skin |
OMIM:132000 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
| You-Hoover-Fong Syndrome |
|
Clinodactyly, Kyphoscoliosis, Brachydactyly |
OMIM:616954 |
| Autosomal Recessive Spastic Paraplegia Type 9B |
|
Skeletal muscle atrophy, Short stature, Kyphoscoliosis, Absent Achilles reflex, Growth delay |
ORPHA:447760 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Short stature, Tapered finger |
OMIM:618367 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Aplasia cutis congenita, Widely spaced toes, Mitten deformity, Clinodacty... |
OMIM:609638 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Keutel Syndrome |
|
Short stature, Dermal atrophy, Calcification of cartilage, Short distal phalanx of finger |
ORPHA:85202 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Short long bone, Dispro... |
OMIM:224410 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth... |
ORPHA:330001 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Short stature, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Ge... |
OMIM:615630 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short stature, Postaxial polydactyly,... |
OMIM:614091 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... |
ORPHA:365 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Joint laxity, Reduced subcutaneous adipose tissue, Pes planus, Overlapping toe, Short stature, Ky... |
OMIM:617402 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Hepatomegaly, Tapered toe, Cardiomegaly, Tapered finger, Long fingers, Dilated cardiomy... |
OMIM:608836 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology... |
ORPHA:980 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Microretrognathia, Sacral dimple, Short neck, Postnatal growth retardation, Kyphosis,... |
OMIM:300966 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy |
OMIM:617713 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Aplasia/Hypoplasia of the skin, Talipes, Abnormality of the low... |
ORPHA:974 |
| Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abn... |
ORPHA:666 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Limb joint contracture, Bradycardia |
OMIM:619814 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
| Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Pes planus, Lumbar hyperlordosis, Arachnodactyly, Facial hypotonia, Kyphoscoliosis,... |
ORPHA:457359 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon... |
OMIM:615503 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Dyskeratosis Congenita |
|
Macule, Aplasia/Hypoplasia of the skin, Short stature, Recurrent fractures, Hypermelanotic macule... |
ORPHA:1775 |
| Glutamine Deficiency, Congenital |
|
Flexion contracture, Bradycardia, Micromelia, Camptodactyly |
OMIM:610015 |
| Primary Dystonia, Dyt4 Type |
|
Torticollis, Kyphoscoliosis |
ORPHA:98805 |
| Hsd10 Disease, Infantile Type |
|
Choreoathetosis, Loss of ambulation, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Joint contracture, Bradycardia, Limb hypertonia |
OMIM:614498 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... |
ORPHA:308552 |
| Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Ataxia, Cardiomegaly, Hepatosplen... |
OMIM:268800 |
| Vascular Ehlers-Danlos Syndrome |
|
Osteoarthritis, Subcutaneous nodule, Internal hemorrhage, Macule, Cigarette-paper scars, Joint hy... |
ORPHA:286 |
| Noonan Syndrome 1 |
|
Short stature, Kyphoscoliosis, Short neck, Postnatal growth retardation, Micrognathia, Synovitis,... |
OMIM:163950 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Impaired myocardial contractility, Hy... |
ORPHA:158687 |
| Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Flexion contracture, Atrioventricular block, Reduced bone mineral density, Loss of ... |
ORPHA:581 |
| Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... |
OMIM:225500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Hallux valgus, Pes planus, Kyphoscoliosis, Kyphosis, Left ventricular noncompaction... |
OMIM:300967 |
| Adams-Oliver Syndrome 2 |
|
Micrognathia, Absent distal phalanges, Short middle phalanx of finger, Aplasia cutis congenita, L... |
OMIM:614219 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Short stature, Kyphosis, Flexion contr... |
ORPHA:3042 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Ankylosis, Dilated cardiomyopathy,... |
OMIM:208000 |
| Hypohidrotic Ectodermal Dysplasia |
|
Thin skin |
ORPHA:238468 |
| Gm1 Gangliosidosis Type 1 |
|
Hypoplastic vertebral bodies, Macroglossia, Flared iliac wing, Short long bone, Platyspondyly, Be... |
ORPHA:79255 |
| Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
| Abetalipoproteinemia |
|
Osteopenia, Kyphoscoliosis, Myopathy, Talipes equinovarus, Distal lower limb muscle weakness, Pes... |
ORPHA:14 |
| Bohring-Opitz Syndrome |
|
Nevus flammeus, Facial hypotonia, Cardiomegaly, Inability to walk, Limitation of joint mobility, ... |
ORPHA:97297 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Lyme Disease |
|
Skin nodule, Atrioventricular block, Arthritis, Dermal atrophy, Arrhythmia |
ORPHA:91546 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Inguinal hernia, Toe syndactyly, Split hand, Split foot, Hand polydactyly, Thin skin |
OMIM:129900 |
| Tetanus |
|
Tachycardia, Stiff neck, Localized skin lesion, Hypertension, Bradycardia |
ORPHA:3299 |
| Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Panniculitis |
ORPHA:33577 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... |
OMIM:614921 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Atrial septal defect, Hepatomegaly, Ventricular septal defect, Camptodactyly of fi... |
OMIM:602782 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Joint hypermobility, Cardiomegaly |
OMIM:618798 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Lowe Oculocerebrorenal Syndrome |
|
Short stature, Camptodactyly of finger, Osteomalacia, Postnatal growth retardation, Kyphosis, Sub... |
OMIM:309000 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... |
OMIM:218600 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia, Lethargy |
OMIM:617397 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Focal dermal aplasia/hypoplasia |
OMIM:164180 |
| Basilar Impression, Primary |
|
Limb muscle weakness, Kyphoscoliosis, Short neck |
OMIM:109500 |
| Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Cardiomegaly |
ORPHA:349 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial ... |
OMIM:616300 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Limited hip extension, Ventricular septal defect, Flexion contracture, Retinal hemor... |
OMIM:614653 |
| Mevalonic Aciduria |
|
Short stature, Kyphoscoliosis |
OMIM:610377 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Thin skin, Hypoplastic-absent sebaceous glands |
OMIM:305100 |
| Floating-Harbor Syndrome |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Kyphoscoliosis, Short neck, Ava... |
ORPHA:2044 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Cardiomegaly, Limb ataxia, Cardiomyopathy, Truncal ataxia, Orthostatic hypotension due to... |
OMIM:105210 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Congenital foot contractures, Tip-toe gait, Bradycardia, Loss of ambulation, Prominent calcaneus,... |
ORPHA:565624 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
| Necrotizing Enterocolitis |
|
Shock, Abnormal heart morphology, Bradycardia, Hypotension, Lethargy |
ORPHA:391673 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Dorsocervical fat pad, Osteoporosis, Skin ulcer, Proximal amyotrophy, Pedal edema, Thin skin, Ver... |
ORPHA:99889 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Joint laxity, Hallux valgus, Pes planus, Kyphoscoliosis, Synostosis involving the 1st metacarpal,... |
ORPHA:466791 |
| Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly |
ORPHA:99931 |
| Dermatomyositis |
|
Pericarditis, Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Myocardial infarction, ... |
ORPHA:221 |
| Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Vertebral fusion, Short stature, Short toe, Generalized muscl... |
OMIM:139210 |
| Alg9-Cdg |
|
Omphalocele, Microretrognathia, Torticollis, Ulnar deviation of the hand, Rhizomelia, Lipodystrop... |
ORPHA:79328 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Kyphoscoliosis |
ORPHA:99750 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Delayed proximal femoral epiphyseal ossification, Macroglossia, Umbilical hernia, Bradycardia, Le... |
ORPHA:90673 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Cardiomegaly, Adipose tissue loss, Flexion contracture, Loss of facial a... |
OMIM:256040 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... |
OMIM:305600 |
| Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin, Palmoplantar keratoderma |
ORPHA:384 |
| Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Sh... |
OMIM:269860 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Scarring alopecia of scalp, Skin erosion, Flexion cont... |
ORPHA:158684 |
| Neurofibroma |
|
Skin tags, Kyphoscoliosis, Spinal canal stenosis, Melanocytic nevus, Periarticular subcutaneous n... |
ORPHA:252183 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Inguinal hernia, Bradycardia, Skeletal muscle atrophy |
OMIM:619272 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly, Kyphoscoliosis, Micrognathia, Joint stiffness |
OMIM:618820 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short neck, Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radia... |
OMIM:180700 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Skin erosion, Dilated cardiomyopathy, Flexion contracture, Atypical scar... |
ORPHA:89842 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Sagittal craniosynostosis, Absent thumb, Proportionate shor... |
ORPHA:500150 |
| Lichen Planopilaris |
|
Dermal atrophy, Papule, Hypopigmented skin patches, Skin ulcer |
ORPHA:525 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Cranial hyperostosis, Short stature, Hypoplastic pilosebaceous units |
OMIM:601345 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Pes planus, Short stature, Kyphoscoliosis, Tapered finger, Short neck, Micrognathia, Talipes calc... |
OMIM:309580 |
| Incontinentia Pigmenti |
|
Scarring, Short stature, Hemivertebrae, Kyphoscoliosis |
OMIM:308300 |
| Hallermann-Streiff Syndrome |
|
Proportionate short stature, Hyperlordosis, Micrognathia, Metaphyseal widening, Slender long bone... |
OMIM:234100 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Coxa valga, Splenomegaly, Flexion contracture, Macroglossia, Hernia, ... |
OMIM:230000 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Short neck, Micrognathia, Wide anterior fontanel, Preaxial polydactyly, Hy... |
OMIM:617925 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Severe short stature, Postnatal growth retardation, Kyphosis... |
OMIM:133540 |
| Williams-Beuren Syndrome |
|
Osteopenia, Joint laxity, Hallux valgus, Inguinal hernia, Short stature, Down-sloping shoulders, ... |
OMIM:194050 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard... |
ORPHA:679 |
| Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ... |
ORPHA:79480 |
| Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Pap... |
ORPHA:740 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex ... |
OMIM:608013 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Disproportion... |
OMIM:619479 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Abnormal dental ename... |
ORPHA:2908 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Waddling gait, Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardi... |
OMIM:182250 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Asymmetric, linear skin defects, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:300952 |
| Xeroderma Pigmentosum Variant |
|
Dermal atrophy, Telangiectasia |
ORPHA:90342 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Ataxia, Hypermelanotic macule, Telangiectasia, Choreoathetosis, Dermal atrophy, Verrucous epiderm... |
OMIM:278700 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Congenital diaphragmatic hernia, Short n... |
OMIM:601803 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... |
ORPHA:85165 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardia, Atri... |
OMIM:300855 |
| Tooth Agenesis, Selective, 4 |
|
Palmoplantar hyperhidrosis, Thin skin |
OMIM:150400 |
| Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Hyperlordosis, Proximal amyotr... |
ORPHA:653 |
| Hallermann-Streiff Syndrome |
|
Recurrent fractures, Proportionate short stature, Micrognathia, Small hand, Reduced bone mineral ... |
ORPHA:2108 |
| Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
| Encephalitis Lethargica |
|
Upper limb muscle weakness, Lethargy, Stiff neck, Bradycardia |
ORPHA:83600 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Inguinal hernia, Transient ischemic attack, Bicuspid aortic valve, Subarach... |
ORPHA:91387 |
| Microphthalmia, Syndromic 1 |
|
Syndactyly, Lumbar hyperlordosis, Down-sloping shoulders, Kyphoscoliosis, Webbed neck, Growth del... |
OMIM:309800 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... |
OMIM:618775 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Aplasia cutis congenita on trunk or limbs, Scarring, Craniosynostos... |
ORPHA:79396 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Subcutaneous nodule,... |
ORPHA:79280 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia |
ORPHA:228308 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Macroglossia, Umbilical hernia, Bradycardia, Le... |
ORPHA:90674 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short stature, Abnormal denta... |
ORPHA:1896 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Dysmetria, Atrial septal ... |
ORPHA:904 |
| Xfe Progeroid Syndrome |
|
Severe short stature, Absence of subcutaneous fat, Corneal scarring, Dermal atrophy, Scoliosis, E... |
OMIM:610965 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Overlapping fingers, Left v... |
ORPHA:79330 |
| Poikiloderma With Neutropenia |
|
Joint laxity, Plantar hyperkeratosis, Short stature, Joint stiffness, Micrognathia, Growth delay,... |
OMIM:604173 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni... |
OMIM:309801 |
| Ring Chromosome 7 Syndrome |
|
Short stature, Hyperpigmented nevi, Prominent crus of helix, Small hand, Genu valgum, Short 5th f... |
ORPHA:1449 |
| Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Postauricular pit, Clinodactyly of the 5th... |
OMIM:113620 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Sacral dimple, Tricuspid regurgitation, Aplasia/Hypoplasia of the skin, Abnormal dental enamel mo... |
ORPHA:2556 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy,... |
OMIM:130650 |
| Toriello-Lacassie-Droste Syndrome |
|
Growth delay, Brachydactyly, Aplasia/Hypoplasia of the skin, Short palm |
ORPHA:3339 |
| Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Lipoatrophy, Cardiomegaly, Raynaud phenomenon, Hepatosplen... |
ORPHA:51 |
| Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Cardiomegaly, Abnormal finger morphology, Aplasia of... |
ORPHA:3472 |
| Congenital Tracheomalacia |
|
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous... |
ORPHA:95430 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal fingertip morphology, Skin erosion, Dilated cardiomyopathy, Osteoporosis, Bradycardia, M... |
ORPHA:79404 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Growth delay, Atrophic sca... |
ORPHA:79408 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Macroglossia, Umbilical hernia |
ORPHA:96191 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Car... |
ORPHA:116 |
| Sickle Cell Disease |
|
Splenomegaly, Hypertension, Cardiomegaly, Hepatomegaly |
OMIM:603903 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Abnormal left ventricular function, Internal hemorrhage, Hepatom... |
ORPHA:99827 |
| Lujo Hemorrhagic Fever |
|
Shock, Stiff neck, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension |
ORPHA:319213 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Dermal atrophy, Osteoporosis, Budd-Chiari syndrome, Ataxia |
OMIM:127550 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Splenomegaly, Bradycardia, Hypotension |
ORPHA:90051 |
| De Sanctis-Cacchione Syndrome |
|
Severe short stature, Hypermelanotic macule, Equinovarus deformity, Dermal atrophy, Bilateral cox... |
OMIM:278800 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Dermal atrophy, Palmar telangiectasia |
ORPHA:69735 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Ataxia, Telangiectasia, Choreoathetosis, Dermal atrophy, Corneal neovascularization |
OMIM:278730 |
| D-Glyceric Aciduria |
|
Bradycardia |
OMIM:220120 |
| Pmm2-Cdg |
|
Osteopenia, Joint laxity, Pes planus, Multiple joint contractures, Lipodystrophy, Kyphoscoliosis,... |
ORPHA:79318 |
| Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Bradycardia, Hypotension, Arrhythm... |
ORPHA:94093 |
| Subacute Cutaneous Lupus Erythematosus |
|
Dermal atrophy, Annular cutaneous lesion, Vasculitis in the skin |
ORPHA:163525 |
| Acute Radiation Syndrome |
|
Skin ulcer, Dermal atrophy, Hypotension, Telangiectasia |
ORPHA:454831 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Delayed proximal femoral epiphyseal ossification, Macroglossia, Hand polydactyly, Umbilical herni... |
ORPHA:226307 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone... |
OMIM:617088 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Cardiac myxoma, Congestive heart failure, 3-4 finger cutaneous syndactyly, 2-3... |
OMIM:181270 |
| Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Transient ischemic attack, Osteomalacia, Cardiomegaly, Pericardial effus... |
ORPHA:51608 |
| Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Arthri... |
ORPHA:99826 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Macroglossia, Lethargy, Umbilical hernia, Bradycardia |
OMIM:218700 |
| Liver Disease, Severe Congenital |
|
Joint laxity, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Left atrial enlargement, ... |
OMIM:619991 |
| Oculoectodermal Syndrome |
|
Transient ischemic attack, Epidermal nevus, Preauricular skin tag, Atrial septal defect, Aplasia ... |
OMIM:600268 |
| Barber-Say Syndrome |
|
Lipodystrophy, Micrognathia, Talipes equinovarus, Dermal atrophy, Clinodactyly of the 5th finger,... |
OMIM:209885 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Bradycardia, Pulmonary insuffic... |
OMIM:614437 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
| Xeroderma Pigmentosum, Variant Type |
|
Growth delay, Dermal atrophy |
OMIM:278750 |
| Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Dermal atrophy, Telangiectasia |
OMIM:278740 |
| Barber-Say Syndrome |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1231 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Dermal atrophy, Telangiectasia |
OMIM:278720 |
| Kindler Syndrome |
|
Dermal atrophy, Telangiectasia of the skin, Spotty hypopigmentation, Diffuse skin atrophy |
OMIM:173650 |
| Dyskeratosis Congenita, X-Linked |
|
Intrauterine growth retardation, Osteoporosis, Dermal atrophy, Short stature |
OMIM:305000 |
| Yellow Fever |
|
Shock, Supraventricular arrhythmia, Hematemesis, Pancreatic hyperplasia, Capillary leak, Reduced ... |
ORPHA:99829 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia |
OMIM:617248 |
