Saethre-Chotzen syndrome (DOID:14768)
Alliance: disease page
Synonyms: acrocephalosyndactyly type III
Alt IDs: OMIM:101400, OMIM:180750, MESH:D000168, NCI:C75034, ORDO:794, UMLS_CUI:C0175699
Definition: An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.