Living with Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
A rare genetic syndrome present from birth with a heart wall defect, narrow eyelid openings, and arm and bowel opening differences.
Understanding Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
It involves a hole in the wall between heart chambers (atrioventricular septal defect) and narrow openings between the eyelids (blepharophimosis). The forearm bone (radius) and thumb may be missing or small, and the anus may be blocked or in a different position. It is noticed in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hole in the heart wall (septal defect)
- Narrow opening between the eyelids
- Missing or small thumb and forearm bone
- Blocked or misplaced anus
- Small head and small lower jaw
- Crossed eyes and hearing differences
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 eye disease specialists, genetic specialists and heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- 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 changes in genes (also called variants) cause this syndrome but doesn't list a specific gene or inheritance pattern.
Also known as: atrioventricular septal defect with blepharophimosis and anal and radial defects; houlston-ironton-temple 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 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome.
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