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.

Synonym(s): acrocephalosyndactyly type I

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.

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

Mentioned in

References in periodicals archive

Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet 1995; 57: 321-8.

Two patients with Apert syndrome with different mutations: the importance of early diagnosis

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

Apert Syndrome: Report of a rare congenital malformation

(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.

Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis

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.

Obstetric ultrasound by family physician: adequacy as assessed by pregnancy outcome

They can occur by themselves as isolated conditions or in conjunction with other symptoms as one aspect of multi-symptom diseases like Apert syndrome, Meckel syndrome, Poland syndrome, VACTERL association, etc.

A CLINICAL STUDY OF CONGENITAL ANOMALIES OF THE DIGITS

The youngster, who was diagnosed with Apert Syndrome when he was a baby, which causes abnormal development of the skull and other areas of the body, has endured several operations at the hospital.

News /Queen in Liverpool Adorable Lewis, 3, wins nation's heart

The paternal age effect in Apert Syndrome is due, in part, to the increased frequency of mutations in sperm.

Paternal factors in spontaneous first trimester miscarriage

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.

CRANIOPLASTY OUR EXPERIENCE IN LAST 5 YEARS

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.

Critical operation: Living on hope

Michael was born with Apert Syndrome, a condition which causes abnormal bone and cartilage formation.

Family runs to raise awareness; In just over a month's time, 50,000 runners will set off on the 27th Great North Run. This year The Journal has teamed up with organiser Nova International to bring you expert advice on how to succeed in the 13.1-mile challenge from Newcastle to South Shields. Each week we'll be giving you training tips on how to stay fit and healthy in the build-up to the event, which takes place on Sunday, September 30