mandibulofacial dysostosis
- 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 cheek and jaw bones, widely separated eyes, malformation of the lower eyelid and lack of eyelashes, malformation of the ear auricle, lack of an external ear canal with resultant conductive deafness, and
other, less common abnormalities. Respiratory problems may be present in the newborn. Intelligence is normal. Treatment includes correction of the deafness by use of a hearing aid or by surgical construction of an ear canal and, sometimes, plastic surgery to enlarge the jaw.
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Universalium.
2010.
Look at other dictionaries:
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… … Medical dictionary
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
