Arachnodactyly-intellectual disability-dysmorphism syndrome

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Overview

Arachnodactyly-intellectual disability-dysmorphism syndrome is an extremely rare genetic condition that affects multiple parts of the body. The name describes its main features: arachnodactyly (unusually long, slender fingers and toes that resemble spider legs), intellectual disability, and dysmorphism (unusual facial and body features). This syndrome was first described in a small number of patients and remains very poorly characterized in the medical literature. People with this condition typically have distinctive facial features, long thin fingers and toes, and varying degrees of intellectual disability that can affect learning and daily functioning. Some individuals may also have growth abnormalities and skeletal differences. Because so few cases have been reported, the full range of symptoms and their severity is not completely understood. There is currently no cure or specific treatment for this syndrome. Management focuses on supportive care, including special education services, physical therapy, occupational therapy, and regular monitoring by a team of specialists. Early intervention programs can help children reach their developmental potential. The rarity of this condition means that research is very limited, and much remains to be learned about its cause, progression, and best management strategies.

Also known as:

Key symptoms:

Unusually long, slender fingers and toesIntellectual disabilityUnusual facial featuresDevelopmental delaysGrowth abnormalitiesJoint looseness or hypermobilitySkeletal differencesSpeech and language delaysLearning difficultiesLow muscle tone

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Arachnodactyly-intellectual disability-dysmorphism syndrome.

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No actively recruiting trials found for Arachnodactyly-intellectual disability-dysmorphism syndrome at this time.

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Search ClinicalTrials.gov ↗Join the Arachnodactyly-intellectual disability-dysmorphism syndrome community →

No specialists are currently listed for Arachnodactyly-intellectual disability-dysmorphism 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 Arachnodactyly-intellectual disability-dysmorphism syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Arachnodactyly-intellectual disability-dysmorphism 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 tests can help confirm this diagnosis and rule out similar conditions?,Should our family have genetic testing, and what would the results mean for future pregnancies?,What therapies and early intervention services do you recommend for my child?,How often should we schedule follow-up visits, and with which specialists?,What educational supports should we request from our school district?,Are there any clinical studies or research programs we could participate in?,What is the expected developmental trajectory, and how can we best support progress?

Common questions about Arachnodactyly-intellectual disability-dysmorphism syndrome

What is Arachnodactyly-intellectual disability-dysmorphism syndrome?

Arachnodactyly-intellectual disability-dysmorphism syndrome is an extremely rare genetic condition that affects multiple parts of the body. The name describes its main features: arachnodactyly (unusually long, slender fingers and toes that resemble spider legs), intellectual disability, and dysmorphism (unusual facial and body features). This syndrome was first described in a small number of patients and remains very poorly characterized in the medical literature. People with this condition typically have distinctive facial features, long thin fingers and toes, and varying degrees of intellec

How is Arachnodactyly-intellectual disability-dysmorphism syndrome inherited?

Arachnodactyly-intellectual disability-dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Arachnodactyly-intellectual disability-dysmorphism syndrome typically begin?

Typical onset of Arachnodactyly-intellectual disability-dysmorphism syndrome is neonatal. Age of onset can vary across affected individuals.