Muenke Syndrome (DOID:0060703)
Alliance: disease page
Synonyms: FGFR3-related craniosynostosis
Alt IDs: OMIM:602849, MESH:C537369, NCI:C84904, ORDO:53271, UMLS_CUI:C1864436
Definition: A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.