mandibulofacial dysostosis
- mandibulofacial dysostosis
man·di·bu·lo·fa·cial dysostosis man-.dib-yə-lō-.fā-shəl- n a dysostosis of the face and lower jaw inherited as an autosomal dominant trait and characterized by bilateral malformations, deformities of the outer and middle ear, and a usu. smaller lower jaw
called also Treacher Collins syndrome
* * *
a hereditary disorder occurring in two forms: the complete form (Franceschetti syndrome) is autosomal dominant and consists of antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia, hypoplasia of the zygomatic arches, and microtia. The incomplete form (Treacher Collins syndrome) consists of the same anomalies in less pronounced degree; it occurs sporadically and autosomal dominance is suspected.
Mandibulofacial dysostosis.
Medical dictionary.
2011.
Look at other dictionaries:
mandibulofacial dysostosis — ▪ genetic disorder also called Treacher Collins Syndrome, or Francheschetti klein Syndrome, a rare, genetic disorder, inherited as an autosomal dominant trait and characterized by some or all of the following: underdevelopment of the… … Universalium
dysostosis — SYN: dysosteogenesis. [dys + G. osteon, bone, + osis, condition] acrofacial d. mandibulofacial d. associated with malformations of the extremities such as defective radius and thumbs, and radioulnar synostosis. SEE ALSO: Treacher Collins syndrome … Medical dictionary
Nager acrofacial dysostosis — a congenital condition in which mandibulofacial dysostosis is associated with limb deformities consisting of absence of the radius, radioulnar synostosis, and hypoplasia or absence of the thumbs … Medical dictionary
Treacher Collins–Franceschetti syndrome — mandibulofacial dysostosis … Medical dictionary
MFD — mandibulofacial dysostosis; methyl phenidate; midforceps delivery; milkfree diet; minimum fatal dose; multiple fractions per day … Medical dictionary
MFD — • mandibulofacial dysostosis; • methyl phenidate; • midforceps delivery; • milkfree diet; • minimum fatal dose; • multiple fractions per day … Dictionary of medical acronyms & abbreviations
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
Franceschetti–Klein syndrome — Classification and external resources ICD 9 756.0 OMIM 154500 DiseasesDB … Wikipedia
Dysplasia — Abnormal in form. From the Greek dys (bad, disordered, abnormal) and plassein (to form). For example, retinal dysplasia is abnormal formation of the retina during embryonic development. * * * Abnormal tissue development. SEE ALSO: heteroplasia.… … Medical dictionary
Treacher Collins syndrome — Trea·cher Col·lins syndrome trē chər käl ənz n MANDIBULOFACIAL DYSOSTOSIS Collins Edward Treacher (1862 1932) British ophthalmologist. Collins was on the staff of the Royal London Ophthalmic Hospital and a visiting ophthalmic surgeon to several… … Medical dictionary
