Muenke syndrome (Q93986)

Muenke syndrome is a syndromic craniosynostosis characterised by premature closure of coronal suture of skull during development (coronal craniosynostosis), which affects the shape of the head and face. It may be uni- or bilateral. When bilateral, it is characterised by a skull with a small antero-posterior diameter (brachycephaly), often with a decrease in the depth of the orbits and hypoplasia of the maxillae. Unilateral closure of the coronal sutures leads to flattening of the orbit on the involved side (plagiocephaly). Intelligence is normal. The extremities are affected in a variable manner: carpal-tarsal fusion is diagnostic when present but is not always present; brachydactyly, carpal bone malsegregation, or coned epiphyses may occur.