Living with Wilson-Turner syndrome
A very rare X-linked condition with learning difficulty, weight gain around the trunk, breast enlargement in males, and short stature.
Understanding Wilson-Turner syndrome
Features include intellectual disability, weight gain around the trunk, enlarged breasts in males (gynecomastia), low sex hormone production (hypogonadism), distinctive facial features, and short stature. Signs often appear in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Developmental delay
- Short stature
- Enlarged male breasts (gynecomastia)
- Low sex hormone production (hypogonadism)
- Mood swings (emotional lability)
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, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in LAS1L 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); 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 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
Wilson-Turner syndrome is caused by changes in the LAS1L gene and follows an X-linked pattern of inheritance.
Also known as: intellectual developmental disorder, x-linked, syndromic, wilson-turner type; intellectual disability, x-linked, syndromic 6; intellectual disability, x-linked, with gynecomastia and obesity; mrxs6; wilson turner syndrome; wilson-turner syndrome, x-linked recessive
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 Wilson-Turner syndrome.
Explore research for Wilson-Turner syndrome
Explore actively recruiting Wilson-Turner syndrome studies with HealthSpark.
Find actively recruiting studies for Wilson-Turner syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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