trisomy 13

a syndrome involving an extra chromosome 13, resulting in the birth of an infant with a variety of problems, including severe intellectual disability; cleft lip and palate; polydactyly (extra fingers or toes); cerebral anomalies; and ocular abnormalities, such as missing or very small eyes, cataracts, and defects in the iris. Many infants with the syndrome die within their first days or weeks of life, and less than 20% of children with this condition live past their first year. Also called D trisomy syndrome; Patau syndrome.

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Psychology term of the day

January 15th 2025

Laurence–Moon–Bardet–Biedl syndrome

an autosomal recessive disorder first described in 1866 by British ophthalmologist John Zachariah Laurence (1830–1870) and his colleague, British-born U.S. ophthalmologist Robert C. Moon (1844–1914), in four siblings with progressive visual impairment, obesity, paralysis, and cognitive impairment. In 1920 and 1922, respectively, French physician George Bardet (1885–1970) and Romanian-born Austrian physician Artur Biedl (1869–1933) independently described patients sharing only some of the symptoms seen in the original siblings, plus additional symptoms that they did not exhibit (e.g., polydactyly, impaired speech, hypogonadism). The syndrome was thus divided into two related disorders, Laurence–Moon syndrome and Bardet–Biedl syndrome (BBS). However, because of overlapping phenotypes, it is thought to be one syndrome, with BBS being the term now commonly used to cover both syndromes. Also called Laurence–Moon–Biedl–Bardet syndrome.