- death) rate among children with Rett syndrome is increased (1.2% per year). A high proportion (26%) of the deaths are sudden and associated with a heart conduction problem, namely an abnormally prolonged QT interval on the electrocardiogram. Rett syndrome is a most unusual disease because ONLY GIRLS have it. It is an X-linked dominant disorder that is lethal in males. Females who receive the Rett syndrome gene (symbolized RTT) have Rett syndrome. Males who receive the RTT gene apparently die before birth. The RTT gene has been found on the X chromosome in chromosome band Xq28 near the very end of the long (q) arm of the X chromosome. Rett syndrome is caused by mutation in the gene encoding methyl-CpG-binding protein-2 (MECP2). The syndrome that bears his name was first described by Andreas Rett, an Austrian pediatrician, in 1966. The frequency of Rett syndrome — about 1 in 10-20,000 girls — appears similar in southwest Sweden, North Dakota, and metropolitan Tokyo.
* * *(ret) [Andreas Rett, Austrian physician, 20th century] see under syndrome.
Medical dictionary. 2011.
Look at other dictionaries:
Rett syndrome — Classification and external resources ICD 10 F84.2 ICD 9 330.8 … Wikipedia
Rett syndrome — ▪ pathology also called cerebroatrophic hyperammonemia rare progressive neurological disorder that causes mental retardation (intellectual disability), compulsive hand movements, reduced muscle tone, difficulties in walking, autism,… … Universalium
Rett syndrome — /ˈrɛt sɪndroʊm/ (say ret sindrohm) noun a syndrome which affects girls between 6 and 18 months of age, exhibiting itself in such symptoms as social withdrawal and loss of hand coordination, and adversely affecting physical and mental development … Australian English dictionary
Rett syndrome — noun An inherited, neurological disease of (mostly female) children characterized by a small head, and by repetitive hand movements … Wiktionary
RTT (Rett syndrome) — A genetic disease that is a uniform and striking, progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. After normal development up to the age of 6 to 18 months, developmental stagnation … Medical dictionary
Syndrome de Reth — Syndrome de Rett Syndrome de Rett Autre nom Aucun Référence MIM 312750 … Wikipédia en Français
Syndrome de Rett — Référence MIM 312750 Transmission Dominante liée à l X Chromosome Xq28 Gène MECP2 … Wikipédia en Français
Syndrome de rett — Autre nom Aucun Référence MIM 312750 … Wikipédia en Français
Rett's syndrome — or Rett syndrome ret(s) n a familial disorder that affects females usu. during infancy, that results from arrested brain development, and that is characterized by cognitive and psychomotor deterioration, dementia, stunted head growth, stereotyped … Medical dictionary
Syndrome de Prader-Willy — Syndrome de Prader Willi Syndrome de Prader Willi Autre nom Syndrome de Prader Labhart Willi Référence MIM … Wikipédia en Français