Apert syndrome

(redirected from MIM 101200)

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.
Farlex Partner Medical Dictionary © Farlex 2012

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

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
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

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
Medical Eponyms © Farlex 2012

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.
Medical Dictionary for the Dental Professions © Farlex 2012