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Treacher Collins syndrome is inherited in an autosomal-dominant pattern. Mutations in TCOF1, POLR1C, or POLR1D genes can cause Treacher Collins syndrome. [17] TCOF1 gene mutations are the most common cause of the disorder, with POLR1C and POLR1D gene mutations causing an additional 2% of cases. In individuals without an identified mutation in ...
A notable historical example is that of Beriberi, a thiamin deficiency syndrome which was long known as a disease of the wealthy in east Asia: Brown rice and other cereal grains are a good source of thiamin, while white rice is not. Because of the labor and waste involved, white rice was long seen as a luxury, meaning a thiamin-deficient diet ...
Transurethral resection of the prostate syndrome; Transverse myelitis; Treacher Collins syndrome; Trench foot; Tricho-hepato-enteric syndrome; Trichothiodystrophy; Tricho–dento–osseous syndrome; Tricho–rhino–phalangeal syndrome; Trigeminal trophic syndrome; Triple X syndrome; Triploid syndrome; Trisomy 8; Tropical splenomegaly syndrome ...
Sudden wealth syndrome is a term given to the psychological condition or identity crisis characterised by symptoms of isolation, paranoia, guilt, uncertainty, and shock. [9] It is a form of abnormal psychology that can lead to more common mental health diagnoses, such as depression, anxiety, and insomnia.
Treacher Collins can refer to: Treacher Collins syndrome , a rare genetic disorder characterised by craniofacial deformities. Edward Treacher Collins , the surgeon and ophthalmologist after whom the syndrome was named.
Dr. Huda Zoghbi is a prominent Rett syndrome researcher. She worked with NBC News correspondent Richard Engel and his son Henry who died. She shared memories, his impact.
The son of NBC News chief foreign correspondent Richard Engel, Henry Engel, died eight months ago at age 6 — but he’s still at the center of the research that will hopefully prevent other ...
Individuals with Treacher Collins syndrome often have both cleft palate and hearing loss, in addition to other disabilities. Hearing loss is often secondary to absent, small or unusually formed ears ( microtia ) and commonly results from malformations of the middle ear .