Print this Article What is ATR-X Syndrome?
aka: Alpha Thalassemia X-Linked Mental Retardation
ATR-X Sydrome
Alpha-Thalassemia/Mental Retardation Syndrome, nondeletion type
ATR, nondeletion type XLMR-Hypotonic Face Syndrome
Features:
A high percentage have:
Severe mental retardation
a thalassemia
Normal birth weight
Neonatal hypotonia
Characteristic face
Microcephaly
Genital abnormalities
Skeletal abnormalities
Short stature
Gut dysmotily
A fewer number have:
Cardiac defects
Renal/Urinary abnormalities
Seizures
Here's where you can find out more:
ATR-X Yahoo Group: An email/forum support group. A valuable place to obtain specific information about ATR-X from those in the know. For parents of ATR-X kids and professionals with an interest. Open to the public. Offering online support and information. http://health.groups.yahoo.com/group/atr-x
Group Frustration: An email/forum support group for parents, carers and family members of kids/adults with ATR-X, and those displaying similar clinical features. For members only, so anything said here is only between members and can not be viewed by passers by. Created to enable families and friends to vent their frustrations, ask questions and explore the world of ATR-X. Offering support and friendship. http://health.groups.yahoo.com/group/Frustration To subscribe send a blank email here: Frustration-subscribe@yahoogroups.com and follow the instructions.
The Gibbons Labratory: Providing a highly detailed look into ATR-X, testing, characteristics of the syndrome and genetics. In language that is relatively easy to understand for the novice. http://www.imm.ox.ac.uk/mhu/Home_Pages/Gibbons/index.html
Disclaimer: The materials provided at this site are for informational purposes and are not intended for use as a diagnosis or treatment tool or as a substitute for consulting a licensed medical professional. Please remember I am just a mum and have absolutely no medical expertise what so ever. This site will not be held responsible for any inaccuracy's present.