Living with Alpha thalassemia-X-linked intellectual disability syndrome
An inherited condition, almost only in males, with intellectual disability, delayed speech, and distinct facial features.
Understanding Alpha thalassemia-X-linked intellectual disability syndrome
Males have intellectual disability and delayed development. Speech is greatly delayed, and most never speak or sign more than a few words. Most children have low muscle tone, which delays sitting, standing, and walking. Almost everyone has distinct facial features, such as widely spaced eyes and a small nose with upturned nostrils. Most have mild signs of alpha thalassemia, a blood disorder.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability and delayed development
- Very limited speech
- Low muscle tone (hypotonia)
- Small head size (microcephaly)
- Acid reflux
- Differences in the male genitals
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists, brain and nervous system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in ATRX are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Simons Searchlight and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ATRX gene cause this condition, and it is inherited in an X-linked way.
Also known as: alpha thalassemia x-linked intellectual deficit; alpha thalassemia x-linked intellectual disability syndrome; alpha thalassemia/intellectual disability syndrome x-linked; alpha-thalassemia-x-linked intellectual disability syndrome; alpha-thalassemia/impaired intellectual development syndrome, x-linked; alpha-thalassemia/intellectual disability syndrome nondeletion type
Patient organizations
- Simons SearchlightAlpha thalassemia-X-linked intellectual disability syndrome · United States
- ATRX Research AllianceAlpha thalassemia-X-linked intellectual disability syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Alpha thalassemia-X-linked intellectual disability syndrome.
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