A dysmorphy syndrome caused by deletion of the terminal segment of the short arm of chromosome 5p. It is characterized by severe mental deficiency, growth retardation, and a peculiar crying sound resembling that of a suffering kitten (hence the synonym crying cat syndrome), that disappears within weeks or months after birth. Multiple abnormalities include microcephaly, round face, hypertelorism, antimongoloid palpebral slant, epicanthus, large frontal sinuses, broad nasal bones, and low-set ears.
- J. Lejeune, J. Lafourcade, R. Berger, J. Vialatte, M. Boeswillwald, P. Séringe, R. Turpin:
Trois cas de délétion partielle du brascourt d’un chromosome 5.
Comptes rendus de l’Académie des sciences, Paris, 1963, 257: 3098-3102.
What is an eponym?An eponym is a word derived from the name of a person, whether real or fictional. A medical eponym is thus any word related to medicine, whose name is derived from a person.
What is Whonamedit?Whonamedit.com is a biographical dictionary of medical eponyms. It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person.
Disclaimer:Whonamedit? does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.