Apert syndrome


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Related to Apert syndrome: Treacher Collins syndrome

A·pert syn·drome

(ah-par'), [MIM*101200]
disorder characterized by craniosynostosis and syndactyly of all the fingers and usually the toes as well; the thumbs are free; mental retardation is a variable feature. Autosomal dominant mutation with most cases sporadic, caused by mutation in the fibroblast growth factor receptor 2 gene (FGFR2) on 10q.
See also: acrocephalosyndactyly.

Apert syndrome

A rare (1:160,000 births) autosomal dominant condition characterised by skull malformation (acrocephaly, brachysphenocephalic type, caused by premature closure of the cranial sutures), accompanied by syndactyly of the hands and feet with complete distal fusion ± including bones; the hand, with all fingers webbed, has been likened to a spoon and, when the thumb is free, to an obstetric hand.
Clinical forms
• Typical acrocephalosyndactyly (AS), characterised by a middigital hand mass with a single nail common to digits 2–4.
• Atypical acrocephalosyndactyly
Clinical Progressive synostosis of feet, hands, carpus, tarsus, cervical vertebrae, skull; flat faces, shallow orbits, hypertelorism, narrow palate, craniosynostosis, brachysphenocephalic acrocephaly, syndactyly, broad thumb and great toe, variable mental retardation, corpus callosum and/or limbic malformations, fused cervical vertebrae.
Imaging Skull X-ray.
Management Surgery.

A·pert syn·drome

(ah-pār' sin'drōm)
Disorder characterized by craniosynostosis and syndactyly; associated with hearing loss; mental retardation is a variable feature.
See also: acrocephalosyndactyly

Apert,

Eugène, French pediatrician, 1868-1940.
Apert hirsutism - excessive body or facial hair caused by a virilizing disorder of adrenocortical origin.
Apert syndrome - type I acrocephalosyndactyly. Synonym(s): Crouzon-Apert disease
Crouzon-Apert disease - Synonym(s): Apert syndrome

A·pert syn·drome

(ah-pār' sin'drōm) [MIM*101200]
Disorder characterized by craniosynostosis and syndactyly of all the fingers and usually the toes as well; the thumbs are free; mental retardation is a variable feature. Autosomal dominant mutation with most cases sporadic, caused by mutation in the fibroblast growth factor receptor 2 gene (FGFR2) on 10q.
References in periodicals archive ?
Although some patients with Apert syndrome are mentally retarded to a varying degree, most of them are able, or can be taught, to care for themselves.
Apert Syndrome is a genetic syndrome that affects one in 160,000 to 200,000 live births.
In the skull of a child affected by Apert Syndrome, these plates are prematurely fused, restricting brain growth and causing increased pressure on the brain.
There are only a handful of other children with Apert Syndrome in Northern Ireland.
We hadn't heard of Apert Syndrome, but we feel like experts now.
Finn was born last year with Apert syndrome, a rare condition affecting one in six-anda-half million children.
Finn also had a several large bumps on his forehead which consultants were already linking to Apert syndrome.
CONVENTIONAL notions of beauty and vanity are challenged in this moving film made by 17-year-old Jess who was born with a disfiguring and distressing condition called Apert syndrome.
In Apert syndrome, for example, the head has a rounded shape accentuated by flattening at the back.
The 20-year-old was born with Apert Syndrome, a congenital condition which restricted the growth of his skull and caused his finger and toe bones to fuse together.