Terminology Service for NFDI4Health

Jackson-Weiss Syndrome

Go to external page http://purl.obolibrary.org/obo/NCIT_C123814


A rare, autosomal dominant inherited disorder caused by mutations in the FGFR2 gene. It is characterized by the premature fusion of the bones of the skull (craniosynostosis) and foot abnormalities. The craniosynostosis results in a malformed skull, widely spaced eyes, and a bulging forehead. The foot abnormalities consist of short and wide first toes, which bend away from the other toes. In addition, syndactyly in some toes may be present. The hands are almost always normal. [ ]

Term info

Label

Jackson-Weiss Syndrome

Synonyms
  • Jackson-Weiss Syndrome
Preferred Name

Jackson-Weiss Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0795998

code

C123814