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Muenke syndrome; Muenke non-syndromic coronal craniosynostosis
Genetics:
- associated with defects in FGFR3
Clinical manifestations:
- premature closure of coronal suture of skull during development (coronal craniosynostosis), which affects the shape of the head & face
- may be uni- or bilateral
- when bilateral, characterized by a skull with a small antero-posterior diameter (brachycephaly), often with a decrease in the depth of the orbits & hypoplasia of the maxillae
- unilateral closure of the coronal sutures leads to flattening of the orbit on the involved side (plagiocephaly)
- intellect is normal
- variable features:
a) skeletal abnormalities of hands & feet
b) sensorineural hearing loss
c) mental retardation
d) respiratory insufficiency
General
craniosynostosis
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 602849
References
- UniProt :accession P22607