Details of Disease

General Information of Disease (ID: DISCMUU1)

Disease Name Muenke syndrome
Synonyms MNKES; syndrome of coronal craniosynostosis; Muenke nonsyndromic coronal craniosynostosis; FGFR3-related craniosynostosis; Muenke syndrome
Definition
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.
Disease Hierarchy
DISEUVBK: Syndromic craniosynostosis
DISCMUU1: Muenke syndrome
Disease Identifiers
MONDO ID
MONDO_0011274
MESH ID
C537369
UMLS CUI
C1864436
OMIM ID
602849
MedGen ID
355217
Orphanet ID
53271
SNOMED CT ID
440350001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FGFR3 TTST7KB Definitive Autosomal dominant [1]
FGFR3 TTST7KB Definitive Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FGFR3 OTSAXDIL Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Muenke syndrome: Medical and surgical comorbidities and long-term management.Am J Med Genet A. 2019 Aug;179(8):1442-1450. doi: 10.1002/ajmg.a.61199. Epub 2019 May 20.