The foundation was started because we want parents and professionals to be able to share information about the rare atr-x syndrome. In The Netherlands there are about 25 boys known to have the syndrome. ATR-x is one of the many genetic disorders that may cause a developmental delay.
ATR-x Syndroom stands for: x-linked Alpha Thalassaemia mental Retardation Syndrome.
The 3 main symptoms of the ATR-x syndrome are:
- severe developmental delay
- characteristic facial features
- an unusual type of anaemia
Only Males express the symptoms of the syndrome, and Females are generally only carriers of the atr-x gene. – However it should be noted that there are circumstances in which the atr-x gene is present due to a ‘mistake at conception’ and the mother is not a carrier.
The goal of this website is to provide information about the syndrome and the foundation.