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 ?
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
Kaddy Thomas with two-year-old son Elijah, who both suffer from Apert Syndrome.
a) Clinical diagnosis Cases, n Gene Mutations (cases, n) Apert syndrome 9 FGFR2 S252W (7) S253R (2) Crouzon syndrome 11 FGFR2 C342Y (2) S347C (2) C342S (1) C278F (1) S354C (1) D336G (1) Pfeiffer syndrome 6 FGFR2 C342S (2) A344P (1) C342R (1) F276V (1) Saethre-Chotzen syndrome 8 TWIST1 R116L (1) K145E (1) FGFR3 P250R (2) Plagiocephaly 36 TWIST1 R154T (1) FGFR3 P250R (9) Brachicephaly 22 TWIST1 N114T (1) R118L (1) R118H (1) FGFR3 P250R (4) Complex cases 5 FGFR2 C278F (1) Mixed cases 43 TWIST1 K145N (1) 221delC (1) FGFR3 P250R (1) Syndromic cases 19 (a) Apert, Crouzon, Pfeiffer, and Saethre-Chotzen syndromes are classic acrocephalosyndactyly syndromes.
Apert syndrome has been diagnosed by ultrasound in the third trimester, (20,21) but there are no reports of ultrasound diagnosis at the gestational age at which the affected fetus in this study was examined.
Apert syndrome is one of the syndrome of craniosynostosis.
The paternal age effect in Apert Syndrome is due, in part, to the increased frequency of mutations in sperm.
They may be sporadic, non-hereditary or they may be a part of syndrome such as Treacher Collins syndrome or Apert syndrome in which case they are inherited.
Absence of the superior rectus muscle in Apert syndrome.
Radhika Raj Nair, who has the mental age of a six-year-old, was born with Apert Syndrome -- a condition that prematurely fuses the skull so that it cannot grow normally.
Other conditions linked to older fathers include the most common type of blood cancer, nervous system cancer, dwarfism, Apert syndrome (a malformation of the skull, hands and feet) and Marfan syndrome, which produces defects of the eyes, bones, heart and blood vessels.
ca 1,2,3, 4,5,6,7 French materials ACQUIRED IMMUNE DEFICIENCY SYNDROME See: AIDS ACROCEPHALOSYNDACTYLY, TYPE I See: Apert Syndrome ACROFACIAL DYSOSTOSIS, NAGER TYPE See: Nager & Miller Syndromes ACROMEGALY See: Multiple Endocrine Neoplasia I; Pituitary Tumors ACTH DEFICIENCY See: Adrenal Disorders ACYL-COA DEHYDROGENASE DEFICIENCY, MEDIUM-CHAIN See: Fatty Oxidation Disorder ADDISON DISEASE See: Adrenal Disorders ADIPOGENITAL-RETINITIS PIGMENTOSA-POLYDACTYLY SYNDROME See: Laurence-Moon-Bardet-Biedl Syndrome ADRENAL CORTEX MALE PSEUDOHERMAPHRODITISM See: Adrenal Disorders ADRENAL DISORDERS National Adrenal Diseases Foundation 505 Northern Blvd.