Muenke Syndrome

Term ID

DOID:0060703

Synonyms

• FGFR3-related craniosynostosis

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. (2)

References

• GARD:7097
• MESH:C537369
• NCI:C84904
• OMIM:602849
• ORDO:53271
• SNOMEDCT_US_2023_03_01:440350001
• UMLS_CUI:C1864436

Ontology

Human Disease   ( DOID:0060703 )