Terminology Service for NFDI4Health

Beare-Stevenson Cutis Gyrata Syndrome

Go to external page http://purl.obolibrary.org/obo/NCIT_C123813


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 a skin abnormality called cutis gyrata. The craniosynostosis results in a cloverleaf-shaped skull, wide-set eyes, ear abnormalities, underdeveloped upper jaw, and developmental delays. Cutis gyrata is characterized by a wrinkled skin appearance, especially on the face, near the ears, and on the palms and soles. [ ]

Term info

Label

Beare-Stevenson Cutis Gyrata Syndrome

Synonyms
  • Beare-Stevenson Cutis Gyrata Syndrome
Preferred Name

Beare-Stevenson Cutis Gyrata Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C1852406

code

C123813