Medical Definition of Apert syndrome
1.
Apert (1906) defined a syndrome characterised by skull malformation (acrocephaly of brachysphenocephalic type) due to the premature closure of the cranial sutures and syndactyly of the hands and feet of a special type (complete distal fusion with a tendency to fusion also of the bony structures). The hand, when all the fingers are webbed, has been compared to a spoon and, when the thumb is free, to an obstetric hand.
Two clinical categories are distinguished, a 'typical' acrocephalosyndactyly, to which Apert's name is appropriately applied and other forms lumped together as 'atypical' acrocephalosyndactyly.
The feature distinguishing the two types is a middigital hand mass with a single nail common to digits 2-4, found in Apert syndrome and lacking in the others. A frequency of Apert syndrome of 1 in 160,000 births is estimated.
Evidence suggests that Apert syndrome results from mutations in the gene encoding fibroblast growth factor receptor-2.
Progressive synostosis occurs in the feet, hands, carpus, tarsus, cervical vertebrae, and skull, and proposed 'progressive synosteosis with syndactyly' is possibly a more appropriate designation.
Clinical features: flat facies, shallow orbits, hypertelorism, narrow palate, craniosynostosis, brachysphenocephalic acrocephaly, syndactyly, broad thumb, broad great toe, single nail digits 2-4, variable mental retardation, corpus callosum and/or limbic malformations, fused cervical vertebrae.
A skull X-ray can confirm the diagnosis. Treatment is surgical.
Inheritance: autosomal dominant, paternal age effect.
(05 Aug 1998)
Lexicographical Neighbors of Apert Syndrome
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