Overview
Ramos-Arroyo syndrome is a very rare condition that affects multiple parts of the body, most notably the eyes and the nervous system. It was first described by doctors Ramos and Arroyo, and only a small number of cases have been reported in the medical literature. The syndrome is sometimes referred to as a congenital syndrome with coloboma and other eye abnormalities combined with intellectual disability and distinctive physical features. People with Ramos-Arroyo syndrome are typically born with problems affecting the structure of the eyes, including coloboma (a gap or hole in part of the eye), which can lead to vision problems or even blindness. Many individuals also have some degree of intellectual disability, meaning they may need extra support with learning and daily tasks. Other features can include unusual facial features, hearing difficulties, and problems with other organ systems. Because this condition is so rare, there is no specific cure, and treatment focuses on managing each symptom as it appears. A team of specialists — including eye doctors, neurologists, and developmental pediatricians — typically works together to support affected individuals. Early intervention programs, special education, and vision rehabilitation can make a meaningful difference in quality of life.
Also known as:
Key symptoms:
Coloboma (a gap or missing piece in part of the eye)Vision problems or reduced visionIntellectual disability or learning difficultiesDistinctive facial featuresHearing loss or difficulty hearingSmall head size (microcephaly)Short statureDelayed development and milestonesAbnormalities of other internal organs
Clinical phenotype terms (46)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Ramos-Arroyo syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Ramos-Arroyo 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 Ramos-Arroyo 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 tests should we do to confirm the diagnosis and look for a genetic cause?,What specialists should be part of our care team, and how often should we see them?,What early intervention or therapy programs do you recommend starting right away?,Are there any complications we should watch for, and what are the warning signs?,How will this condition affect my child's development and ability to learn?,Are there any clinical trials or research studies we could participate in?,Where can we find support groups or connect with other families affected by this condition?
Common questions about Ramos-Arroyo syndrome
What is Ramos-Arroyo syndrome?
Ramos-Arroyo syndrome is a very rare condition that affects multiple parts of the body, most notably the eyes and the nervous system. It was first described by doctors Ramos and Arroyo, and only a small number of cases have been reported in the medical literature. The syndrome is sometimes referred to as a congenital syndrome with coloboma and other eye abnormalities combined with intellectual disability and distinctive physical features. People with Ramos-Arroyo syndrome are typically born with problems affecting the structure of the eyes, including coloboma (a gap or hole in part of the eye
How is Ramos-Arroyo syndrome inherited?
Ramos-Arroyo syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ramos-Arroyo syndrome typically begin?
Typical onset of Ramos-Arroyo syndrome is neonatal. Age of onset can vary across affected individuals.