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loading...| Preferred Name |
Jackson-Weiss syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_1540 |
| alternative_term |
Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome JWS |
| definition |
Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1540 |
| has_age_of_onset |
Neonatal |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
MeSH:C537559 OMIM:123150 ICD-10:Q87.8 UMLS:C0795998 |
| label |
Jackson-Weiss syndrome |
| notation |
ORPHA:1540 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_1540 |
| prefLabel |
Jackson-Weiss syndrome |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Worldwide AND has_cases/families_value : 200.0 (Case) |
| treeView | |
| subClassOf |
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