Syndrome of Muenke

The syndrome of Muenke is characterized by a premature fusion of the Suture S coronales of the Fœtus (Craniosynostose) or of the child or by a Macrocéphalie. When it exists, fusion can be plain or bilateral. Bilateral fusion involves a Brachycéphalie or a Turribrachycéphalie (deformation of cranium in the shape of turn). A unilateral fusion involves a former Plagiocéphalie (asymmetrical deformation of the face and cranium. Bilateral fusion is twice more frequent than unilateral fusion.

The other joinings of craniums are seldom implied. The operational risk of intracranial hypertension post is higher at the individuals carrying this disease than in the other forms of craniosynostose.

The other cephalic signs of the disease are facial characteristics including/understanding a Hypertélorisme, a Ptosis, a Hypoplasie of the lower half of the face and a very arched oral palate.

A deafness (a third of the individuals), a delay of the development (a third of the individuals) and a fusion of the bones of the Carpus and Tarse are the other signs of the disease.

The demonstrations of this disease are very variable according to the individuals. Some present that signs minor, others are deeply affected.

Sources

Emily S Doherty, Maximilian Muenke, Muenke Syndrome In: GeneReviews At GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1997-2006.

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