Living with Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
A rare genetic syndrome with no voice, hearing loss, eye problems, big toe differences, and intellectual disability.
Understanding Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
People have moderate to severe intellectual disability, no voice from birth (aphonia), and hearing loss. Eye problems include optic nerve damage and retinal dystrophy. Thumbs are broad and big toes are duplicated. Facial features and genitals can also be affected. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Breakdown of light-sensitive cells in the eye (retinal dystrophy)
- Broad thumbs
- Duplicated big toe bones
- Drooping upper eyelids (ptosis)
- Feeding difficulties
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 is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome; aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome; aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome; aphonia, deafness, retinal dystrophy, duplicated halluces, intellectual disability syndrome; aphonia, hearing loss, retinal dystrophy, duplicated halluces, intellectual disability 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 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome.
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