craniofacial dysostosis

(redirected from craniofacial anomalies)

dysostosis

 [dis″os-to´sis]
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.

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.

craniofacial dysostosis

(krā′nē-ō-fā′shəl)

craniofacial dysostosis

Etymology: Gk, kranion + L, facies, face; Gk, dys, bad, osteon, bone
an abnormal hereditary condition characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism. This condition is transmitted as an autosomal-dominant trait. See also dysostosis.

craniofacial dysostosis

(1) Apert syndrome (see there); acrocephalosyndactyly type I, OMIM:101200. 
(2) Crouzon craniofacial dysostosis (see there), OMIM:123500.

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

Crouzon,

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
References in periodicals archive ?
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.
The company was a Bronze Sponsor of an event in support of children with clefts and other craniofacial anomalies
Cleft lip and/or cleft palate (CL/P) are the most common congenital craniofacial anomalies with varying incidence.
The exact incidence of craniofacial anomalies is not known in the country, however, for craniosynostosis, it has been found as 2 per 2,360 live births in the northern part of the country.
2,3) This study was done to detect ocular involvement in patients with craniofacial anomalies and also to emphasise importance of routine ophthalmic examination in these patients.
6 in children between the ages of 7 and 13 years, without craniofacial anomalies, diseases of the muscles and joints and without obstruction of the upper airways.
Parenting stress in infancy and psychosocial adjustment in toddlerhood: A longitudinal study of children with craniofacial anomalies.
A variety of craniofacial anomalies have also been reported in KFS, few of which are quite common, such as cleft palate and bifid uvula (15%) and facial asymmetry (13%), whereas others are represented by isolated cases.
66-million hospital to treat craniofacial anomalies, or facial deformities.
Enter Santa Barbara-based, non-profit Look At Us Alliance which helps kids and young adults with craniofacial anomalies pay for otherwise out-of-reach medical care and surgeries.