Overview
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome is an extremely rare genetic condition that combines three main features: ophthalmoplegia (difficulty moving the eyes), intellectual disability, and lingua scrotalis (a deeply furrowed or grooved tongue, sometimes called scrotal tongue). This syndrome affects the nervous system and the muscles that control eye movement, as well as brain development and function. People with this condition typically have limited or absent ability to move their eyes in certain directions, which can affect vision and coordination. The intellectual disability can range from mild to more significant, affecting learning, reasoning, and daily functioning. The furrowed tongue is usually not painful but gives the tongue a distinctive wrinkled appearance. Some individuals may also have additional neurological features such as facial weakness or other cranial nerve problems. Because this syndrome is so rare, there is very limited information about it in the medical literature. Only a handful of cases have been described. There is currently no cure, and treatment focuses on managing symptoms. This may include special education support, vision aids, physical therapy, and regular monitoring by a team of specialists. Early intervention with developmental support can help individuals reach their full potential.
Also known as:
Key symptoms:
Inability or difficulty moving the eyesIntellectual disability or learning difficultiesDeeply grooved or furrowed tongueFacial muscle weaknessDelayed developmental milestonesDifficulty with speechProblems with coordinationDrooping eyelidsDouble vision or difficulty focusingDifficulty swallowing in some cases
Clinical phenotype terms (13)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome.
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Specialists
View all specialists →No specialists are currently listed for Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome.
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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 the eye movement problems, and are there aids that can help?,What level of intellectual disability does my child have, and what support services are available?,Should we pursue genetic testing such as whole exome sequencing?,Are there any clinical trials or research studies we could participate in?,What therapies (speech, occupational, physical) would benefit my child most?,Is this condition expected to stay stable or could it change over time?,What is the chance of having another child with this condition?
Common questions about Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
What is Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome?
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome is an extremely rare genetic condition that combines three main features: ophthalmoplegia (difficulty moving the eyes), intellectual disability, and lingua scrotalis (a deeply furrowed or grooved tongue, sometimes called scrotal tongue). This syndrome affects the nervous system and the muscles that control eye movement, as well as brain development and function. People with this condition typically have limited or absent ability to move their eyes in certain directions, which can affect vision and coordination. The intellectual
How is Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome inherited?
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome typically begin?
Typical onset of Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome is childhood. Age of onset can vary across affected individuals.