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:
  • skeletal abnormalities of hands & feet
  • sensorineural hearing loss
  • mental retardation
  • respiratory insufficiency

More general terms

• craniosynostosis
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/602849