Overview
Coxoauricular syndrome is an extremely rare genetic condition that affects the development of the hip joints and the ears. The name comes from 'coxo' (referring to the hip) and 'auricular' (referring to the ear). People born with this syndrome typically have hip joint abnormalities, including hip dysplasia or dislocation, along with malformations of the outer ear (also called pinna abnormalities). Some individuals may also have short stature and other skeletal problems. This condition is present from birth, and the combination of hip and ear abnormalities is what helps doctors recognize it as a distinct syndrome rather than isolated birth defects. Because it is so rare, with only a handful of cases described in the medical literature, much about this condition remains poorly understood. There is currently no cure for coxoauricular syndrome. Treatment focuses on managing the individual symptoms. Hip problems may require orthopedic interventions such as bracing, physical therapy, or surgery to improve joint function and mobility. Ear abnormalities may be addressed through reconstructive surgery or hearing aids if hearing is affected. A team of specialists working together provides the best care for affected individuals.
Key symptoms:
Hip joint abnormalities or hip dislocation present at birthMalformed or unusually shaped earsShort statureLimited hip movementPossible hearing lossSkeletal abnormalitiesFacial differencesDifficulty walking or delayed walking
Clinical phenotype terms (9)— 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 Coxoauricular syndrome.
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Specialists
View all specialists →No specialists are currently listed for Coxoauricular 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 Coxoauricular 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.How severe is my child's hip abnormality, and what treatment options are available?,Does my child have any hearing loss, and if so, what can be done about it?,Should we pursue genetic testing to confirm the diagnosis or identify the cause?,What is the chance of having another child with this condition?,What physical therapy or exercises should we be doing at home?,Will my child need surgery for the hip or ear problems?,Are there any other specialists we should be seeing?
Common questions about Coxoauricular syndrome
What is Coxoauricular syndrome?
Coxoauricular syndrome is an extremely rare genetic condition that affects the development of the hip joints and the ears. The name comes from 'coxo' (referring to the hip) and 'auricular' (referring to the ear). People born with this syndrome typically have hip joint abnormalities, including hip dysplasia or dislocation, along with malformations of the outer ear (also called pinna abnormalities). Some individuals may also have short stature and other skeletal problems. This condition is present from birth, and the combination of hip and ear abnormalities is what helps doctors recognize it as
How is Coxoauricular syndrome inherited?
Coxoauricular syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Coxoauricular syndrome typically begin?
Typical onset of Coxoauricular syndrome is neonatal. Age of onset can vary across affected individuals.