Crouzon syndrome


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Related to Crouzon syndrome: Pfeiffer syndrome, Treacher Collins syndrome

Crou·zon syn·drome

(krŭ-zŏn[h]'), [MIM*123500]
craniosynostosis with broad forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla; autosomal dominant inheritance, caused by mutation in the fibroblast growth factor receptor 2 gene (FGFR2) on chromosome 10q. Crouzon syndrome with acanthosis nigricans is due to mutation in the fibroblast growth factor receptor 3 gene (FGFR3) on 4p.

Crouzon syndrome

(kro͞o-zŏn′, -zôN′)
n.
A genetic disorder characterized by premature closure of one or more cranial sutures, resulting in craniofacial abnormalities such as oxycephaly, widely spaced, protruding eyes, and hypoplasia of the maxilla. Also called craniofacial dysostosis.

Crouzon syndrome

An autosomal dominant condition (OMIM:123500) characterised by craniosynostosis causing secondary defects of facial bones and structures, including hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.

Molecular pathology
Mutations of FGFR2 cause Crouzon syndrome.

Crou·zon syn·drome

(krū-zōn[h]' sin'drōm)
Craniosynostosis with broad forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla; associated with hearing loss.

Crou·zon syn·drome

(krū-zōn[h]' sin'drōm) [MIM*123500]
Craniosynostosis with broad forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla.
References in periodicals archive ?
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.
Crouzon Syndrome is caused by a problem with genes, and 50 per cent of the time is passed on through the father's sperm.
Crouzon syndrome is an autosomal dominant disease associated with a mutation in the fibroblast growth-factor receptor-2 gene; it is characterized by shallow orbits, premature craniosynostosis, maxillary hypoplasia, and growth hormone deficiency.
THIS series, following children with complex medical conditions as they undergo pioneering treatment at London's Great Ormond Street Hospital, takes a look at a youngster with Crouzon syndrome.
The Macropore system, which was used to correct a Crouzon Syndrome mid-face deformity in a four-year-old girl, proved the efficacy of resorbable implants in craniofacial surgery and offered significant advantages over titanium devices, including reduced surgical time, greater simplicity and ease of use, and a much less invasive follow-up procedure.
However, molecular analysis is difficult at present, especially for Crouzon syndrome, where current methods rely on the sequencing of the aforementioned exons.
But when 38-year-old Beverley discovered her third child would be born with disfiguring Crouzon syndrome she was overwhelmed with fear and dreaded seeing her new baby for the first time.