Term Name: Crouzon syndrome-acanthosis nigricans syndrome
Synonyms: Crouzon-dermoskeletal syndrome, Crouzonodermoskeletal syndrome
Definition: A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16.
Ontology: Human Disease [DOID:0111161]   ( DOID:0111161 )

Relationships
is a type of: autosomal dominant disease bone disease syndrome