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 ?
Coexistence of Crouzon syndrome with ventricular septal defect.
Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods.
(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 with acanthosis vnigricans: a case-based update.
Because the cephalometric examination and fibroblast growth factor receptor 2 were normal, we could exclude the diagnosis of Crouzon syndrome. The diagnoses of brain tumor and pseudotumor cerebri as causes of papilledema could be ruled out because the patient's intracranial pressure and brain magnetic resonance venography were normal.
Ceridwen took images of children including Isabel Gardner, who has encephalitis, and Matthew Hogg, who has Crouzon syndrome. Encephalitis is an inflammation of the brain, while Crouzon syndrome causes a child's skull and facial bones to fuse early in development.
Before Alice fell ill, Vicky and dad Simon had already endured years of hospitals when younger daughter Milly was diagnosed with Crouzon syndrome, a genetic condition that caused her facial bones to fuse.
Hadyn has Crouzon syndrome, a facial condition which has seen him so far undergo 40 operations and has left him partially deaf.
Among those being treated is two-year-old Coral who suffers from Crouzon syndrome, a rare genetic disorder that causes her brain to grow through her skull.
Medical conditions which increase the risk of developing SDB compared to the general population include overweight (including Prader-Willi syndrome), syndromes with midface hypoplasia (e.g., Pierre Robin sequence, Treacher Collins, Crouzon syndrome), large tongue (e.g., Trisomy 21, Beckwith Wiedeman syndrome) and neuromuscular disorders (e.g., cerebral palsy and myotonic dystrophy) (14).
Abby was born with Crouzon Syndrome, which affects one in 60,000 babies born in the UK.