Term Name: Beare-Stevenson cutis gyrata syndrome
Synonyms:
Definition: A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.
Ontology: Human Disease [DOID:0050660]   ( DOID:0050660 )

Relationships
is a type of: autosomal dominant disease syndrome