Living with Intellectual disability, X-linked syndromic, Turner type
An X-linked condition (HUWE1-related) that affects brain development, with delayed speech, delayed walking, and facial differences.
Understanding Intellectual disability, X-linked syndromic, Turner type
It is caused by changes in the HUWE1 gene. In some families only males are affected, and in others females can be too. Symptoms can include delayed development, poor or absent speech, delayed walking, scoliosis, or mild skeletal differences. Males may also have undescended testicles.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Delayed walking
- Crossed eyes (strabismus)
- Deep-set eyes
- Broad nasal tip
- Ears rotated toward the back
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 HUWE1 gene cause this condition. It follows an X-linked pattern of inheritance.
Also known as: brooks wisniewski brown syndrome; brooks-wisniewski-brown syndrome; intellectual developmental disorder, x-linked, syndromic, turner type; mrxst; syndromic x-linked intellectual disability turner type; x-linked intellectual disability, brooks type
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, Turner type.
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