Term Name: Pfeiffer syndrome
Synonyms: acrocephalosyndactylia type V
Definition: An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
Ontology: Human Disease [DOID:14705]   ( DOID:14705 )

Relationships
is a type of: acrocephalosyndactylia autosomal dominant disease