Living with Intellectual disability, X-linked, syndromic 33
A rare X-linked syndrome (TAF1-related) with developmental delay, intellectual disability, hearing loss, and distinct facial features.
Understanding Intellectual disability, X-linked, syndromic 33
Other features include distinct facial features, low muscle tone, loose joints, and variable neurological features. Eye, skin, bone, muscle, digestive, and heart differences have also been described. It begins during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed movement skills
- Intellectual disability
- Autistic behavior
- Repeated middle ear infections
- Crossed eyes (strabismus)
- Differences in facial shape
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in TAF1 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
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- 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 rare disease patient organizations for support
- 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 TAF1 gene cause this condition. It is inherited in an X-linked pattern, meaning the gene is on the X chromosome.
Also known as: intellectual developmental disorder, x-linked syndromic 33, x-linked recessive; intellectual developmental disorder, x-linked, syndromic 33; intellectual disability, x-linked, syndromic type 33; mrxs33; taf1 x-linked syndromic intellectual disability; x-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Intellectual disability, X-linked, syndromic 33.
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