Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

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ORPHA:397973OMIM:606772Q87.8
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8Treatment centers

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Overview

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome (also sometimes referred to by its Orphanet designation OMIM-related syndromic intellectual disability) is an extremely rare genetic condition that affects multiple body systems. People with this syndrome typically have intellectual disability of varying severity, obesity that often develops in childhood, and prognathism, which means the lower jaw sticks out more than usual. In addition, affected individuals may have eye problems such as abnormalities of the retina or other parts of the eye, and skin anomalies including unusual pigmentation or texture changes. Because this condition is so rare, it has been described in only a very small number of individuals or families in the medical literature. The combination of intellectual disability, obesity, a prominent jaw, and eye and skin findings together helps doctors distinguish this syndrome from other conditions that share some of these features. There is currently no cure for this syndrome. Treatment focuses on managing individual symptoms, such as special education support for intellectual disability, weight management programs for obesity, eye care from an ophthalmologist, and dermatological treatment for skin issues. Early intervention services and supportive therapies can help affected individuals reach their fullest potential.

Also known as:

Key symptoms:

Intellectual disability or learning difficultiesObesity or significant weight gain in childhoodProminent or protruding lower jaw (prognathism)Eye abnormalities such as vision problems or retinal changesSkin anomalies such as unusual pigmentation or textureDelayed developmental milestonesBehavioral difficultiesDistinctive facial featuresSpeech and language delaysPossible short stature or growth differences

Clinical phenotype terms (27)— hover any for plain English
Hyperopic astigmatismHP:0000484Hallux valgusHP:0001822Crowded maxillary incisorsHP:0006333Abducens palsyHP:0006897Cone-shaped epiphyses of the toesHP:0010164
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

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-obesity-prognathism-eye and skin anomalies syndrome.

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No actively recruiting trials found for Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome at this time.

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No specialists are currently listed for Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

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-obesity-prognathism-eye and skin anomalies syndrome.

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Community

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Latest news about Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

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Caregiver Resources

NORD Caregiver Resources

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

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

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 specific genetic testing would you recommend for my child, and what can it tell us?,How severe is the intellectual disability, and what therapies would be most helpful?,What can we do to manage weight gain effectively and safely?,How often should my child have eye exams, and what eye problems should we watch for?,Are there any skin treatments that could help with the skin anomalies?,What educational supports and services should we be requesting at school?,Are there any clinical trials or research studies we could participate in?

Common questions about Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

What is Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome?

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome (also sometimes referred to by its Orphanet designation OMIM-related syndromic intellectual disability) is an extremely rare genetic condition that affects multiple body systems. People with this syndrome typically have intellectual disability of varying severity, obesity that often develops in childhood, and prognathism, which means the lower jaw sticks out more than usual. In addition, affected individuals may have eye problems such as abnormalities of the retina or other parts of the eye, and skin anomalies includin

At what age does Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome typically begin?

Typical onset of Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is childhood. Age of onset can vary across affected individuals.