craniofacial dysostosis


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Related to craniofacial dysostosis: cleidocranial dysostosis, Crouzon's disease, Treacher Collins syndrome

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
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