loading...| Preferred Name | Weill-Marchesani syndrome | |
| Synonyms |
Spherophakia-brachymorphia syndrome |
|
| Definitions |
Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_3449 |
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| alternative_term |
Spherophakia-brachymorphia syndrome |
|
| definition |
Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3449 |
|
| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive Autosomal dominant |
|
| hasDbXref |
UMLS:C0265313 ICD-11:9C61.42 ICD-10:Q87.0 OMIM:277600 OMIM:608328 MedDRA:10064963 OMIM:614819 OMIM:613195 MeSH:D056846 |
|
| label |
Weill-Marchesani syndrome |
|
| notation |
ORPHA:3449 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_519294 http://www.orpha.net/ORDO/Orphanet_519292 http://www.orpha.net/ORDO/Orphanet_98638 http://www.orpha.net/ORDO/Orphanet_522554 http://www.orpha.net/ORDO/Orphanet_102285 |
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| prefixIRI |
ORDO:Orphanet_3449 |
|
| prefLabel |
Weill-Marchesani syndrome |
|
| present_in |
Worldwide AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_519294 http://www.orpha.net/ORDO/Orphanet_519292 http://www.orpha.net/ORDO/Orphanet_98638 http://www.orpha.net/ORDO/Orphanet_522554 http://www.orpha.net/ORDO/Orphanet_102285 |
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| subClassOf |