Beare-Stevenson Cutis Gyrata Syndrome

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123813

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.

Beare-Stevenson Cutis Gyrata Syndrome

Beare-Stevenson Cutis Gyrata Syndrome

C123813

Beare-Stevenson Cutis Gyrata Syndrome

Disease or Syndrome

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193