Living with Ramos-Arroyo syndrome
A very rare genetic syndrome with eye and hearing problems, a bowel nerve condition, short stature, and intellectual disability.
Understanding Ramos-Arroyo syndrome
Features include loss of feeling in the cornea, retinal changes, hearing loss in both ears, distinct facial features, and short stature. A heart vessel that stays open (patent ductus arteriosus), Hirschsprung disease (a bowel condition), and intellectual disability can also occur. GARD lists onset in the newborn or infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Reduced feeling in the cornea
- Retinal changes and reduced vision
- Hearing loss in both ears
- Hirschsprung disease (enlarged colon)
- Open vessel in the heart (patent ductus arteriosus)
- Intellectual disability and delayed motor skills
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says gene changes cause this condition. It is autosomal dominant, meaning one changed copy of a gene from a parent is enough. It doesn't name a gene yet.
Also known as: corneal anesthesia-deafness-intellectual disability syndrome; corneal anesthesia-hearing loss-intellectual disability syndrome; corneal anesthesia, deafness, intellectual disability syndrome; ramos arroyo syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ramos-Arroyo syndrome.
Explore research for Ramos-Arroyo syndrome
Explore actively recruiting Ramos-Arroyo syndrome studies with HealthSpark.
Find actively recruiting studies for Ramos-Arroyo syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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