Overview
Eye defects-arachnodactyly-cardiopathy syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. The name describes its three main features: eye problems (eye defects), unusually long and slender fingers and toes (arachnodactyly, sometimes called 'spider fingers'), and heart abnormalities (cardiopathy). This syndrome shares some features with other connective tissue disorders such as Marfan syndrome, but it is considered a distinct condition. Patients with this syndrome may experience a range of eye problems, which can include lens dislocation (ectopia lentis), nearsightedness (myopia), or other structural abnormalities of the eye. The heart problems can vary in severity and may involve valve abnormalities or other structural heart defects. The long, thin fingers and toes are often noticeable from birth or early childhood. Because this condition is so rare, there is very limited information about its full range of symptoms, natural history, and optimal treatment. Management is generally supportive and focuses on treating each affected organ system individually. Regular monitoring by eye doctors, heart specialists, and geneticists is important. There is currently no cure or disease-specific therapy available.
Also known as:
Key symptoms:
Unusually long and slender fingers and toes (spider-like fingers)Eye abnormalities such as lens dislocationHeart defects or heart valve problemsNearsightedness or other vision problemsTall and thin body buildJoint hypermobility or loose jointsSkeletal abnormalitiesPossible developmental differences
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Eye defects-arachnodactyly-cardiopathy syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Eye defects-arachnodactyly-cardiopathy syndrome at this time.
New trials open frequently. Follow this disease to get notified.
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 Eye defects-arachnodactyly-cardiopathy syndrome.
Community
No community posts yet. Be the first to share your experience with Eye defects-arachnodactyly-cardiopathy syndrome.
Start the conversation →Latest news about Eye defects-arachnodactyly-cardiopathy syndrome
No recent news articles for Eye defects-arachnodactyly-cardiopathy syndrome.
Follow this condition to be notified when news becomes available.
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 heart and eye problems does my child or I have, and how severe are they?,How often should we have heart and eye check-ups?,Are there any physical activities or sports that should be avoided?,Should we pursue genetic testing, and what would it tell us?,What signs or symptoms should prompt an emergency visit?,Is genetic counseling recommended for our family?,Are there any clinical trials or research studies we could participate in?
Common questions about Eye defects-arachnodactyly-cardiopathy syndrome
What is Eye defects-arachnodactyly-cardiopathy syndrome?
Eye defects-arachnodactyly-cardiopathy syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. The name describes its three main features: eye problems (eye defects), unusually long and slender fingers and toes (arachnodactyly, sometimes called 'spider fingers'), and heart abnormalities (cardiopathy). This syndrome shares some features with other connective tissue disorders such as Marfan syndrome, but it is considered a distinct condition. Patients with this syndrome may experience a range of eye problems, which can include lens dislocation (ectop
How is Eye defects-arachnodactyly-cardiopathy syndrome inherited?
Eye defects-arachnodactyly-cardiopathy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Eye defects-arachnodactyly-cardiopathy syndrome typically begin?
Typical onset of Eye defects-arachnodactyly-cardiopathy syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Eye defects-arachnodactyly-cardiopathy syndrome?
1 specialists and care centers treating Eye defects-arachnodactyly-cardiopathy syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.