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Treacher Collins syndrome

an autosomal dominant disorder that affects the development of small bones in the face. The facial anomalies—a small, retracted chin; small, downward-slanting eyes with defects of the iris; cleft palate; and deformed or absent external ears—vary from minimal to severe. Hearing loss may also occur. Most individuals with the syndrome have normal intelligence. Mutations in the TCOF1 gene are the most common cause of the syndrome. Also called Berry syndrome; Franceschetti–Zwahlen–Klein syndrome; mandibulofacial dysostosis. [Edward Treacher Collins (1862–1919), British ophthalmologist]

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May 8th 2024