Intellectual disability-strabismus syndrome

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ORPHA:363528OMIM:615286H50.8
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1Specialists8Treatment centers

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Overview

Intellectual disability-strabismus syndrome is a very rare genetic condition that combines learning difficulties (intellectual disability) with strabismus, which is a condition where the eyes do not line up properly — commonly known as crossed eyes or squint. People with this syndrome typically show delays in reaching developmental milestones such as talking and learning new skills. The strabismus component means that one or both eyes may turn inward, outward, upward, or downward, which can affect depth perception and vision if not treated. Because this is an extremely rare condition, the medical understanding of it is still limited. The intellectual disability can range from mild to more significant, affecting a person's ability to learn, reason, and function independently. Strabismus in this syndrome may be present from early childhood and can sometimes be managed with glasses, eye patches, or surgery. There is currently no cure for this syndrome. Treatment focuses on managing symptoms — special education services and therapies for intellectual disability, and ophthalmological interventions for the eye misalignment. Early intervention with speech therapy, occupational therapy, and physical therapy can help children reach their fullest potential. Regular eye exams are important to monitor and treat the strabismus to prevent further vision problems such as amblyopia (lazy eye).

Key symptoms:

Intellectual disability or learning difficultiesCrossed eyes or misaligned eyes (strabismus)Delayed speech and language developmentDelayed motor milestones such as sitting or walkingDifficulty with problem-solving and reasoningPoor depth perceptionDouble vision or blurred visionDifficulty with coordinationBehavioral challengesReduced ability to function independently

Clinical phenotype terms (50)— hover any for plain English
Inheritance

X-linked recessive

Carried on the X chromosome; typically affects males more than females

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Intellectual disability-strabismus syndrome.

View clinical trials →

No actively recruiting trials found for Intellectual disability-strabismus syndrome at this time.

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Specialists

1 foundView all specialists →
HP
H HL Goossens, PhD
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Intellectual disability-strabismus syndrome.

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Community

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.What is the severity of my child's intellectual disability, and what level of support will they need?,What type of strabismus does my child have, and what are the best treatment options?,Should we pursue genetic testing to look for a specific cause?,What early intervention therapies do you recommend, and how often should they occur?,Is surgery needed for the eye misalignment, and what are the risks and benefits?,What educational accommodations should we request at school?,Are there any other specialists we should see?

Common questions about Intellectual disability-strabismus syndrome

What is Intellectual disability-strabismus syndrome?

Intellectual disability-strabismus syndrome is a very rare genetic condition that combines learning difficulties (intellectual disability) with strabismus, which is a condition where the eyes do not line up properly — commonly known as crossed eyes or squint. People with this syndrome typically show delays in reaching developmental milestones such as talking and learning new skills. The strabismus component means that one or both eyes may turn inward, outward, upward, or downward, which can affect depth perception and vision if not treated. Because this is an extremely rare condition, the med

How is Intellectual disability-strabismus syndrome inherited?

Intellectual disability-strabismus syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Intellectual disability-strabismus syndrome typically begin?

Typical onset of Intellectual disability-strabismus syndrome is childhood. Age of onset can vary across affected individuals.

Which specialists treat Intellectual disability-strabismus syndrome?

1 specialists and care centers treating Intellectual disability-strabismus syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.