Terminology Service for NFDI4Health
Muenke Syndrome
Go to external page
http://purl.obolibrary.org/obo/NCIT_C84904
A rare autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by premature fusion of cranial bones, resulting in head shape abnormalities, flattened cheekbones, and wide-set eyes. [ ]
Term info
Label
Muenke Syndrome
Synonyms
- Muenke Syndrome
Preferred Name
Muenke Syndrome
Semantic Type
Disease or Syndrome
UMLS CUI
C1864436
code
C84904