Alpha-thalassemia x-linked intellectual disability syndrome

Print

Disease Overview

Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms.  It is caused by mutations in the ATRX gene and is inherited in an x-linked way.  Treatment includes regular visits to the doctor to monitor growth and intellectual development, early intervention and special education programs, and special formula to help with feeding and nutrition.[5523]


Synonyms

  • Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked
  • ATRX syndrome
  • ATR, nondeletion type
  • XLMR hypotonic face syndrome
  • X-linked alpha-thalassemia/intellectual disability syndrome

For more information, visit GARD.

National Organization for Rare Disorders