Muenke syndrome (Q93986): Difference between revisions
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A síndrome de Muenke é uma craniossinostose sindrômica caracterizada pelo fechamento prematuro da sutura coronal do crânio durante o desenvolvimento (craniossinostose coronal), que afeta o formato da cabeça e da face. Pode ser uni ou bilateral. Quando bilateral, caracteriza-se por um crânio com pequeno diâmetro ântero-posterior (braquicefalia), muitas vezes com diminuição da profundidade das órbitas e hipoplasia da maxila. O fechamento unilateral das suturas coronais leva ao achatamento da órbita do lado envolvido (plagiocefalia). A inteligência é normal. As extremidades são afetadas de maneira variável: a fusão carpo-tarsal é diagnóstica quando presente, mas nem sempre está presente; braquidactilia, má segregação do osso carpal ou epífises em cone podem ocorrer. | |||
| description / en | description / en | ||
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. | |||
Revision as of 09:05, 16 August 2026
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.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1860572017 |
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| English | Muenke syndrome |
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. |
