Overview
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is an extremely rare genetic condition that affects brain development and physical features. The name describes its main characteristics: children with this condition have significant intellectual disability, meaning they have serious difficulties with learning, thinking, and problem-solving. Their ability to develop speech and language is very limited. They also have strabismus, which means their eyes do not line up properly (sometimes called crossed eyes or squint). Their facial expressions may appear unusual, often described as a grimacing appearance. Their fingers tend to be noticeably long. Because this syndrome affects multiple body systems — the brain, eyes, face, and hands — it is classified as a multi-system developmental disorder. This condition is so rare that very few cases have been described in the medical literature, which means knowledge about it is still growing. There is currently no cure for this syndrome. Treatment focuses on managing individual symptoms and providing supportive therapies such as speech therapy, physical therapy, occupational therapy, and special education services. Eye care, including possible surgery for strabismus, may also be needed. Early intervention programs can help children reach their best potential, even though challenges will remain throughout life.
Key symptoms:
Severe intellectual disabilityVery limited or absent speech and languageCrossed eyes or misaligned eyes (strabismus)Unusual grimacing facial expressionsAbnormally long fingersDelayed developmental milestonesDifficulty with fine motor skillsBehavioral challengesDifficulty with self-care and daily activitiesPossible feeding difficulties in early life
Clinical phenotype terms (48)— hover any for plain English
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome.
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Specialists
View all specialists →No specialists are currently listed for Severe intellectual disability-poor language-strabismus-grimacing face-long fingers 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 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome.
Community
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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 genetic tests should be done to confirm the diagnosis and look for the underlying cause?,What therapies are most important to start right away for my child's development?,How should we manage the eye misalignment, and will surgery be needed?,Are there any signs of seizures or other neurological concerns we should watch for?,What educational and support services are available for my child?,Is genetic counseling recommended for our family regarding future pregnancies?,Are there any research studies or clinical trials we could participate in?
Common questions about Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
What is Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome?
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is an extremely rare genetic condition that affects brain development and physical features. The name describes its main characteristics: children with this condition have significant intellectual disability, meaning they have serious difficulties with learning, thinking, and problem-solving. Their ability to develop speech and language is very limited. They also have strabismus, which means their eyes do not line up properly (sometimes called crossed eyes or squint). Their facial expressions may appea
At what age does Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome typically begin?
Typical onset of Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is infantile. Age of onset can vary across affected individuals.