Preferred Label : Muenke syndrome;
ICD-11 definition : Muenke syndrome is a syndromic craniosynostosis characterized 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
characterized 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.;
Origin ID : 1860572017;
Currated CISMeF NLP mapping
Muenke syndrome is a syndromic craniosynostosis characterized 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
characterized 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.
