Crouzon syndrome-acanthosis nigricans syndrome

Term ID

DOID:0111161

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. (3)

References

• OMIM:612247
• ORDO:93262

Ontology

Human Disease   ( DOID:0111161 )