Overview
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. The name of the syndrome describes its main features: aphonia (inability to speak or produce voice), deafness (hearing loss), retinal dystrophy (a progressive eye condition that damages the retina and can lead to vision loss), bifid halluces (the big toes are split or duplicated), and intellectual disability (difficulties with learning and thinking skills). Because this syndrome involves so many different parts of the body — including the eyes, ears, voice, brain, and skeletal system — it is classified as a multi-system disorder. Children affected by this condition typically show signs early in life, and the combination of hearing loss, vision problems, and intellectual disability can significantly affect development and daily functioning. Because the condition is so rare, there is currently no specific cure or targeted treatment. Management focuses on addressing each symptom individually, such as using hearing aids or cochlear implants for deafness, vision support for retinal problems, speech therapy alternatives for aphonia, and special education services for intellectual disability. Orthopedic care may also be needed for the foot abnormalities. A team of specialists working together is essential to provide the best possible care.
Also known as:
Key symptoms:
Inability to produce voice or speak (aphonia)Hearing loss or deafnessProgressive vision loss due to retinal damageSplit or duplicated big toes (bifid halluces)Intellectual disabilityDelayed developmental milestonesDifficulty with learning and communicationNight blindness or poor vision in dim lightAbnormal toe or foot structureSpeech and language delays
Clinical phenotype terms (35)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability 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 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability 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 is the expected progression of the retinal dystrophy, and how often should my child's eyes be checked?,Would cochlear implants or hearing aids be beneficial for my child's type of hearing loss?,What communication methods do you recommend given the combination of aphonia and deafness?,Are there genetic tests that could identify the exact cause and help with family planning?,What early intervention services should we start right away?,Is there any ongoing research or clinical trials related to this syndrome?,What specialists should be part of our care team, and how often should we see them?
Common questions about Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
What is Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome?
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is an extremely rare genetic condition that affects multiple body systems at the same time. The name of the syndrome describes its main features: aphonia (inability to speak or produce voice), deafness (hearing loss), retinal dystrophy (a progressive eye condition that damages the retina and can lead to vision loss), bifid halluces (the big toes are split or duplicated), and intellectual disability (difficulties with learning and thinking skills). Because this syndrome involves so many different parts of the bod
How is Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome inherited?
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome typically begin?
Typical onset of Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.