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

apertura sinus sphenoidalis
apertura thoracis inferior
apertura thoracis superior
apertura tympanica canaliculi chordae tympani
aperture
aperture
apertured
apertures
aperture correction
aperture diaphragm
aperture for electron microscopy
aperture function
aperture of mastoid antrum
aperture of orbit
aperture plane
Apert syndrome
apery
apes
apetalies
apetalous
apetalous
apetalous flower
apetaly
apex
apex
apexcardiogram
apexcardiography
apexes
apexification
apexigraph

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