A symptom complex only observed in girls. The child develops normally for 6 to 12 months, and then the disease manifests in the age 6 months to 4 years. It is a progressive neurodevelopmental disorder characterised by acquired microcephaly, severe dementia, autism, purposeless hand movements, characteristic hand-wringing stereotypy, and jerky ataxia of the trunk. Hypotonia (loss of muscle tone) is usually the first symptom. Inheritance is probably X-linked dominant with lethality in the hemizygous males. The disorder was originally described by Andreas Rett of Austria in 1966, but was not known worldwide until two decades later following a report by Hagberg et al describing 35 affected girls from Sweden, Portugal, and France. The syndrome affects approximately 1 in every 10,000-15,000 live female births. The gene causing the disorder has now been identified.
In the spring of 1965, Andreas Rett observed two young girls sitting on their mothers’ laps in his waiting room. Like mirror images of each other, they were petite and profoundly disabled and were wringing their hands together incessantly. After searching his files, Dr. Rett found six other girls with a similar clinical picture and wrote the first description of the syndrome that now bears his name.
one of a kind
so we thought
but 'tis not true
now we find she is one of a few
Poem by Gail Smith
- A. Rett:
Über ein eigenartiges hirnatrophisches Syndrom bei Hyperammonämie im Kindesalter.
Wiener medizinische Wochenschrift, 1966, 116: 723-726 eller 723-738.
- A. Rett:
Über ein cerebral-atrophisches Syndrom bei Hyperammonämie. Wien, Bruder-Hollinek. 1972.
- B. Leiber, G. Olbrich:
Die klinischen Syndrome: Rett' Syndrom.
München, Urban & Schwarzenberg, 1982, pp. 763-764.
- B. Hagberg, Jean Aicardi (1926–), K. ias, O. Ramos:
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand ise girls: Rett syndrome: report of 35 cases.
Annals of Neurology, Boston, 1983, 14: 471-479.
- B. Hagberg:
Rett syndrome: Swedish approach to analysis of prevalence and cause.
Brain Dev. 1985, 7: 277-280.
- J. M. Opitz, J. F. Reynolds, L. M. Spano, H. W. Moser, editors:
The Rett syndrome.
American Journal of Medical Genetics, New York, 1986; 24 (supplement 1): 1-415.
- A. Rett:
Rett syndrome: history and general overview.
American Journal of Medical Genetics, New York, 1986, 24, Supplement 1: 21-25.
- A. Kerr, J. Corbett:
Rett syndrome: from gene to gesture.
Journal of the Royal Society of Medicine, London, 1994, 87: 562-565.