Overview
Otoonychoperoneal syndrome is a very rare inherited condition that affects three main parts of the body: the ears, the nails, and the legs. The name itself gives clues — 'oto' refers to the ears, 'onycho' refers to the nails, and 'peroneal' refers to the muscles and nerves on the outer side of the lower leg. This condition is also sometimes referred to in medical literature simply by its Orphanet code or described by its combination of features rather than a widely used common name. People with this syndrome are typically born with hearing loss or abnormalities of the outer ear, unusual or absent fingernails and toenails, and weakness or wasting of the muscles in the lower legs — particularly those controlled by the peroneal nerve. This muscle weakness can make walking difficult and may cause a characteristic way of lifting the feet when walking, sometimes called foot drop. There is currently no cure for otoonychoperoneal syndrome. Treatment focuses on managing individual symptoms. This may include hearing aids or other hearing support, physical therapy to help with leg weakness, orthopedic devices like ankle-foot braces to improve walking, and nail care support. A team of specialists is usually needed to address the different parts of the body that are affected.
Key symptoms:
Hearing loss, often present from birthAbnormal or absent fingernails and toenailsWeakness in the muscles of the lower legsDifficulty walking or foot drop (trouble lifting the front of the foot)Wasting or thinning of lower leg musclesAbnormalities of the outer ear shape or structurePossible deformities of the feet
Clinical phenotype terms (13)— 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 Otoonychoperoneal syndrome.
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Specialists
View all specialists →No specialists are currently listed for Otoonychoperoneal 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 Otoonychoperoneal syndrome.
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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 genetic tests should we do to confirm the diagnosis and identify the gene responsible?,What type of hearing loss does my child or I have, and what hearing devices would help most?,How quickly might the leg muscle weakness progress, and what can we do to slow it down?,What kind of brace or orthopedic device would be best for managing foot drop?,Are there any clinical trials or research studies we could participate in?,What specialists should be part of our care team, and how often should we see each one?,What should we watch for that would mean we need to seek care urgently?
Common questions about Otoonychoperoneal syndrome
What is Otoonychoperoneal syndrome?
Otoonychoperoneal syndrome is a very rare inherited condition that affects three main parts of the body: the ears, the nails, and the legs. The name itself gives clues — 'oto' refers to the ears, 'onycho' refers to the nails, and 'peroneal' refers to the muscles and nerves on the outer side of the lower leg. This condition is also sometimes referred to in medical literature simply by its Orphanet code or described by its combination of features rather than a widely used common name. People with this syndrome are typically born with hearing loss or abnormalities of the outer ear, unusual or ab
How is Otoonychoperoneal syndrome inherited?
Otoonychoperoneal syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Otoonychoperoneal syndrome typically begin?
Typical onset of Otoonychoperoneal syndrome is neonatal. Age of onset can vary across affected individuals.