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Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
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| Preferred Name | Jackson-Weiss syndrome | |
| Synonyms |
JWS Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome |
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| Definitions |
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. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_1540 |
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| alternative_term |
JWS Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
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|
| 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.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1540 |
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| has_age_of_onset |
Neonatal
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| has_inheritance |
Autosomal dominant
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| hasDbXref |
OMIM:123150 MeSH:C537559 UMLS:C0795998 ICD-10:Q87.8
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| label |
Jackson-Weiss syndrome
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|
| notation |
ORPHA:1540
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_1540
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| prefLabel |
Jackson-Weiss syndrome
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| present_in |
Worldwide AND has_cases/families_value : 200.0 (Case) Worldwide AND has_point_prevalence_range : Unknown
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| treeView | ||
| subClassOf |
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