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Muenke syndrome

ORPHA53271
Synonym(s) -
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q87.0
OMIM
UMLS
  • C1864436
MeSH
  • C537369
MedDRA -

Summary

Disease definition

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis (more often bilateral than unilateral), midfacial retrusion, strabismus, hearing loss and developmental delay.

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Detailed information

Clinical genetics review
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