Term Name: Saethre-Chotzen syndrome
Synonyms: acrocephalosyndactyly type III
Definition: An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.
Ontology: Human Disease [DOID:14768]   ( DOID:14768 )

Relationships
is a type of: acrocephalosyndactylia autosomal dominant disease