Living with Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
A very rare condition present from birth with a heart vessel difference, facial differences, and intellectual disability.
Understanding Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
It involves a right-sided aortic arch (a difference in how the main blood vessel from the heart curves), a smaller head, and differences in the shape of facial bones. It was seen in 4 members of one family across 2 generations. GARD notes there have been no further descriptions in the medical literature since 1968.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Difference in the shape of the aortic arch
- Smaller-than-average head (microcephaly)
- Intellectual disability
- Broad forehead
- Facial asymmetry
- Small mouth with downturned corners
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 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); 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 changes in genes (also called variants) cause this syndrome. It appears to be autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
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 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome.
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