Overview
Acrootoocular syndrome is an extremely rare genetic condition that affects multiple parts of the body, particularly the hands and feet (acro-), ears (oto-), and eyes (ocular). This syndrome is present from birth and involves a combination of birth defects. People with this condition may have malformations of the fingers and toes, such as short digits or fused fingers, along with abnormalities of the outer ear and hearing problems. Eye abnormalities can also occur, including small eyes or other structural differences that may affect vision. Because this syndrome is so rare, with only a handful of cases described in the medical literature, our understanding of the full range of symptoms and the best approaches to care is still limited. The condition falls under the broader category of multiple congenital anomaly syndromes, classified under ICD-10 code Q87.0. There is currently no cure for acrootoocular syndrome. Treatment focuses on managing individual symptoms and may involve surgery to correct structural abnormalities of the hands, feet, ears, or eyes. Hearing aids or other assistive devices may be recommended if hearing loss is present. A team of specialists typically works together to address the various aspects of this condition. Early intervention and supportive therapies can help improve quality of life for affected individuals.
Key symptoms:
Short fingers or toesFused fingers or toesAbnormally shaped earsHearing lossSmall eyes or other eye abnormalitiesVision problemsFacial differencesFoot deformitiesHand malformationsPossible developmental delays
Clinical phenotype terms (42)— hover any for plain English
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 Acrootoocular syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Acrootoocular syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Acrootoocular 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 Acrootoocular syndrome.
Community
No community posts yet. Be the first to share your experience with Acrootoocular syndrome.
Start the conversation →Latest news about Acrootoocular syndrome
No recent news articles for Acrootoocular 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 abnormalities does my child have, and how severe are they?,Is genetic testing recommended for our family, and what might it tell us?,What surgeries or treatments are recommended, and when should they happen?,How often should my child's hearing and vision be checked?,What early intervention services should we start right away?,What is the chance of having another child with this condition?,Are there any specialists or centers with experience in this syndrome?
Common questions about Acrootoocular syndrome
What is Acrootoocular syndrome?
Acrootoocular syndrome is an extremely rare genetic condition that affects multiple parts of the body, particularly the hands and feet (acro-), ears (oto-), and eyes (ocular). This syndrome is present from birth and involves a combination of birth defects. People with this condition may have malformations of the fingers and toes, such as short digits or fused fingers, along with abnormalities of the outer ear and hearing problems. Eye abnormalities can also occur, including small eyes or other structural differences that may affect vision. Because this syndrome is so rare, with only a handful
How is Acrootoocular syndrome inherited?
Acrootoocular syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Acrootoocular syndrome typically begin?
Typical onset of Acrootoocular syndrome is neonatal. Age of onset can vary across affected individuals.