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Muenke Syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease craniosynostosis
Related Genes
