Overview
External auditory canal atresia-vertical talus-hypertelorism syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The name describes its three main features: atresia (closure or absence) of the external ear canal, vertical talus (a foot deformity sometimes called 'rocker-bottom feet'), and hypertelorism (eyes that are spaced wider apart than usual). Because the ear canal is closed or missing, affected individuals typically have significant hearing loss on one or both sides. The foot abnormality causes the sole of the foot to have a rounded shape, which can make walking difficult or painful without treatment. Additional features may include other facial differences and skeletal abnormalities. This syndrome has been described in only a handful of patients in the medical literature, making it one of the rarest multi-system conditions known. Because so few cases have been reported, the full range of symptoms and the natural history of the disease are not completely understood. Treatment is focused on managing each individual symptom. Hearing aids or surgical reconstruction may help with hearing loss, and orthopedic surgery can correct the foot deformity. Early intervention with hearing support and physical therapy is important for development. Genetic counseling is recommended for affected families to understand the chance of the condition occurring in future children.
Also known as:
Key symptoms:
Absent or closed ear canal (one or both sides)Hearing loss or deafnessWidely spaced eyesRocker-bottom feet (vertical talus)Flat feet or foot deformityDifficulty walkingAbnormal ear shape or small earsFacial differencesPossible speech and language delays due to hearing lossSkeletal abnormalities
Clinical phenotype terms (6)— 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 External auditory canal atresia-vertical talus-hypertelorism syndrome.
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Specialists
View all specialists →No specialists are currently listed for External auditory canal atresia-vertical talus-hypertelorism 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 External auditory canal atresia-vertical talus-hypertelorism 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
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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 degree of my child's hearing loss, and what hearing devices are recommended?,When is the best time to consider surgery for the foot deformity?,Should we pursue genetic testing, and what might it tell us?,What early intervention services should we start right away?,What is the chance of this condition occurring in future pregnancies?,Are there other health problems we should screen for?,Can you refer us to specialists experienced with this condition?
Common questions about External auditory canal atresia-vertical talus-hypertelorism syndrome
What is External auditory canal atresia-vertical talus-hypertelorism syndrome?
External auditory canal atresia-vertical talus-hypertelorism syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The name describes its three main features: atresia (closure or absence) of the external ear canal, vertical talus (a foot deformity sometimes called 'rocker-bottom feet'), and hypertelorism (eyes that are spaced wider apart than usual). Because the ear canal is closed or missing, affected individuals typically have significant hearing loss on one or both sides. The foot abnormality causes the sole of the foot to have a rounded sh
How is External auditory canal atresia-vertical talus-hypertelorism syndrome inherited?
External auditory canal atresia-vertical talus-hypertelorism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does External auditory canal atresia-vertical talus-hypertelorism syndrome typically begin?
Typical onset of External auditory canal atresia-vertical talus-hypertelorism syndrome is neonatal. Age of onset can vary across affected individuals.