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Jackson-Weiss syndrome

Disease Summary
Associated Targets (2)
Tclin

2


GARD Rare
Mondo Description 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.
Uniprot Description An autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence.
Mondo Term and Equivalent IDs
MONDO:0007400:  Jackson-Weiss syndrome
DOID:0111337: 
GARD:0006796: 
MESH:C537559: 
NCIT:C123814: 
Orphanet:1540: 
SCTID:709105005: 
UMLS:C0795998: