loading...| Preferred Name | Schwartz-Jampel syndrome | |
| Synonyms |
Burton syndrome SJS Dysostosis enchondralis metaepiphysaria, Catel-Hempel type Catel-Hempel syndrome Aberfeld syndrome SJS1 Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies Burton skeletal dysplasia Schwartz-Jampel-Aberfeld syndrome Schwartz-Jampel syndrome type 1 Myotonic chondrodystrophy Osteochondromuscular dystrophy |
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| Definitions |
A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia). |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_800 |
|
| alternative_term |
Burton syndrome SJS Dysostosis enchondralis metaepiphysaria, Catel-Hempel type Catel-Hempel syndrome Aberfeld syndrome SJS1 Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies Burton skeletal dysplasia Schwartz-Jampel-Aberfeld syndrome Schwartz-Jampel syndrome type 1 Myotonic chondrodystrophy Osteochondromuscular dystrophy |
|
| definition |
A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia). |
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| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=800 |
|
| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
ICD-10:Q78.8 MedDRA:10082378 ICD-10:G71.1 OMIM:255800 ICD-11:8C71.1 UMLS:C0036391 |
|
| label |
Schwartz-Jampel syndrome |
|
| notation |
ORPHA:800 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_207101 http://www.orpha.net/ORDO/Orphanet_253 http://www.orpha.net/ORDO/Orphanet_206644 http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_674499 |
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| prefixIRI |
ORDO:Orphanet_800 |
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| prefLabel |
Schwartz-Jampel syndrome |
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| present_in |
Worldwide AND has_cases/families_value : 129.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_207101 http://www.orpha.net/ORDO/Orphanet_253 http://www.orpha.net/ORDO/Orphanet_206644 http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_674499 |
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| subClassOf |