craniofacial dysostosis

(redirected from craniofacial anomalies)


defective ossification; a defect in the normal ossification of fetal cartilages.
cleidocranial dysostosis an autosomal dominant condition in which there is defective ossification of the cranial bones, complete or partial absence of the clavicles, so that the shoulders may be brought together, or nearly together, in front, and dental and vertebral anomalies. See illustration.
Cleidocranial dysostosis. From Dorland's, 2000.
craniofacial dysostosis an autosomal dominant condition marked by a pointed or conical skull, protruding wide-set eyes, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism. Called also Crouzon's disease.
mandibulofacial dysostosis a hereditary disorder occurring in two different forms: the complete form is Franceschetti syndrome and the incomplete form is Treacher Collins syndrome. Persons with the condition have downslanting eyes (antimongoloid palpebral fissures); absence of all or part of the lower lid; underdeveloped cheekbones that appear depressed; a prominent nose, wide mouth, and small receding chin; underdeveloped, malformed, or prominent ears; and small tufts of hair in front of the ears. There is often, but not always, some degree of hearing loss, usually conductive.
metaphyseal dysostosis a skeletal abnormality in which the epiphyses are normal or nearly so, and the metaphyseal tissues are replaced by masses of cartilage, producing interference with endochondral bone formation and expansion and thinning of the metaphyseal cortices.
orodigitofacial dysostosis orofaciodigital syndrome.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

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.
Farlex Partner Medical Dictionary © Farlex 2012

craniofacial dysostosis

The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

craniofacial dysostosis

(1) Apert syndrome (see there); acrocephalosyndactyly type I, OMIM:101200. 
(2) Crouzon craniofacial dysostosis (see there), OMIM:123500.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

craniofacial dysostosis

Crouzon's disease Pediatrics An AD condition characterized by cranial suture defects, widened skull, a high forehead, ocular hypertelorism, exophthalmos, beaked nose and maxillary hypoplasia
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.


Octave, French physician, 1874-1938.
Crouzon disease - craniostosis with widening of the skull and high forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla. Synonym(s): craniofacial dysostosis
Crouzon-Apert disease - Synonym(s): Apert syndrome
Medical Eponyms © Farlex 2012
References in periodicals archive ?
The topics include an overview of diagnosis and treatment, the neuro-developmental assessment of swallowing and feeding, pediatric gastroenterology, clinical swallowing and feeding assessment, pulmonary manifestations and management considerations for aspiration, and clinical genetics: evaluating and managing patients with craniofacial anomalies associated with feeding disorders.
Although the treatment of children with CLP and other types of craniofacial anomalies in SA has been ongoing for >6 decades, [39] comprehensive care is still lacking.
Later, subjects with no previous loss of primary molars, no history of previous orthodontic or prosthodontic treatment, serial extraction, without acquired or congenitally missing teeth, having no stainless steel crowns or large restorations, facial and/or dental trauma, and no craniofacial anomalies were selected.
were the first to apply distraction osteogenesis to the craniofacial skeleton in 1990's in children having congenital craniofacial anomalies. [7-9] Since then, it has been applied to various bones of the craniofacial skeleton.
According to a WHO study on craniofacial anomalies carried out in 13 countries, the incidence varies from 0.22 to 1.67 per thousand live births.
Common craniofacial anomalies: Facial clefts and encephaloceles.
The neonate displayed various craniofacial anomalies including low set ears with thickened helices, flattened nasal bridge, ankyloglossia, and abnormal calvarial shape.
It is usually in the medial canthus of the eye [3, 5]; it may be isolated [4] or in association with other craniofacial anomalies [3, 4, 6].
Hajdu-Cheney syndrome (HCS) is a rare disorder which is characterized by developmental delay, craniofacial anomalies, congenital heart defects, hearing deficit, polycystic kidneys, and bone abnormalities, including progressive osteoporosis, acroosteolysis, wormian bones, and abnormal bone fractures.[1] Truncating mutations in Notch homolog protein 2 gene ( NOTCH2 ) are the principal cause of HCS.
The company was a Bronze Sponsor of an event in support of children with clefts and other craniofacial anomalies