Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old man

Am J Med Genet A. 2021 Jul;185(7):2164-2167. doi: 10.1002/ajmg.a.62213. Epub 2021 May 4.


We have followed the clinical course of a 45-year-old man with a severe form of alpha-thalassemia X-linked intellectual disability syndrome for 40 years. The most challenging health issue is the combination of rumination, drooling, and vomiting. The patient achieved present adaptive and motor skills in his teenage years. He is able to move on the floor in a sitting position. He seems happy and has not shown any behavioral or psychiatric symptoms. New signs not described in the literature before are accelerated growth after puberty and atypical sleeping position with upper body resting on legs.

Keywords: X-chromosomal syndrome; alpha-thalassemia X-linked intellectual disability; rumination-drooling-vomiting sign.

Publication types

  • Case Reports

MeSH terms

  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Mental Retardation, X-Linked
  • Middle Aged
  • Motor Skills / physiology*
  • Sleep / genetics
  • alpha-Thalassemia

Supplementary concepts

  • ATR-X syndrome