acrocephalosyndactylism


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acrocephalosyndactyly

A family of autosomal dominant conditions caused by premature closure of cranial sutures resulting in a peaked head and facial dysmorphia.
 
Management
Surgery to correct skull and facial abnormalities.

Acrocephalosyndactyly
Type 1: Apert syndrome.
Type 2: Apert-Crouzon syndrome; both are regarded as part of the same condition MIM 101200.
Type 3: Chotzen or Saethre-Chotzen syndrome MIM 101400.
Type 5: Pfeiffer syndrome MIM 101600.

acrocephalosyndactylism

A congenital malformation consisting of a pointed head and fusion of the fingers and toes. The condition is also known as Apert's syndrome. (Eugène Apert, French paediatrician, 1868–1940).
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