orodigitofacial dysostosis


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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.

or·o·fa·ci·o·dig·i·tal syn·drome (OFD),

an inherited syndrome, lethal in males, with varying combinations of defects of the oral cavity, face, and hands, including lobulated or bifid tongue, cleft or pseudocleft palate, tongue tumors, missing or malpositioned teeth, hypoplastic nasal alar cartilage, depressed nasal bridge, brachydactyly, clinodactyly, incomplete syndactyly, and, frequently, mental retardation; autosomal recessive [MIM 252100 and MIM 258850] or X-linked [MIM 311200] inheritance.

orodigitofacial dysostosis

Papillon-Léage,

E., 20th century French dentist.
Papillon-Léage and Psaume syndrome - an inherited, lethal, syndrome in males, with varying combinations of defects of the oral cavity, face, and hands, and, frequently, mental retardation. Synonym(s): orodigitofacial dysostosis

or·o·fa·ci·o·dig·i·tal syn·drome

(OFD) (ōrō-fāshē-ō-diji-tăl sindrōm)
Inherited syndrome, lethal in males, with varying combinations of defects of oral cavity, face, and hands, including lobulated or bifid tongue, cleft or pseudocleft palate, tongue tumors, and missing or malpositioned teeth.
Synonym(s): orodigitofacial dysostosis.

orodigitofacial dysostosis (OFD syndrome),

n a syndrome characterized by abnormal development of the jaws and tongue, cleft lip and palate, hypoplasia of bones of the skull with ocular hypertelorism, nasal alar deformity, malformation of digits (frequently manifested as brachydactyly and syndactyly), mental retardation, granular skin, and alopecia of the scalp.