[The Rubinstein-Taybi syndrome or a broad thumb-hallux syndrome].
The Rubinstein-Taybi syndrome (broad thumb-hallux syndrome) is a rare congenital disease with prevalence 1:125,000 of life-born children. It is characterised by multiplex malformations, which includes growth and psychomotor retardation. Up to this date, over 1000 cases have been described in literature. This review is mainly focused on a description of symptoms, which occur in the syndrome mentioned above and serve as main diagnostic markers. Mutations in the CBP and the p300 genes have been associated with this disease as well. Therefore, substantial part is devoted to aetiology, where emphasis is put on a genetic origin of the Rubinstein-Taybi syndrome. Possibilities of this diagnose are mentioned at the end of the article.
Hosek
J
J
Farmaceutická fakulta, Veterinárni a farmaceutická univerzita, Brno. hhosek@gmail.com
Borková
A
A
D006801:Humans; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy