Overview
Caudal appendage-deafness syndrome is an extremely rare condition that is present from birth. It is characterized by two main features: a caudal appendage (a small tail-like growth at the base of the spine) and hearing loss (deafness). The caudal appendage is a soft, skin-covered projection found in the lower back or tailbone area. It may contain fat, connective tissue, or sometimes cartilage, but it does not contain bone or spinal cord tissue. The hearing loss associated with this syndrome can range from moderate to severe and may affect one or both ears. It is typically sensorineural, meaning it results from problems in the inner ear or the nerve pathways that carry sound signals to the brain. Because this syndrome is so rare, with only a handful of cases described in the medical literature, our understanding of its full range of symptoms and its underlying genetic cause remains limited. Some affected individuals may also have other minor physical differences. Treatment is focused on managing symptoms. The caudal appendage can usually be removed surgically if desired, and hearing loss can be addressed with hearing aids, cochlear implants, or other assistive devices. Early intervention with speech and language therapy is important for children with significant hearing loss to support communication development. Genetic counseling is recommended for affected families to understand the chance of the condition occurring in future children.
Key symptoms:
Small tail-like growth at the base of the spine (caudal appendage)Hearing loss or deafnessPossible speech and language delays due to hearing lossPossible minor physical differences in the lower spine area
Clinical phenotype terms (7)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Caudal appendage-deafness syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Caudal appendage-deafness syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Caudal appendage-deafness 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 Caudal appendage-deafness syndrome.
Community
No community posts yet. Be the first to share your experience with Caudal appendage-deafness syndrome.
Start the conversation →Latest news about Caudal appendage-deafness syndrome
No recent news articles for Caudal appendage-deafness syndrome.
Follow this condition to be notified when news becomes available.
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 type and degree of hearing loss does my child have?,Would hearing aids or cochlear implants be the best option for my child?,Should the caudal appendage be surgically removed, and when is the best time?,Is genetic testing available to identify the cause of this condition?,What early intervention services should we start for speech and language development?,What is the chance of this condition occurring in future children?,Are there any other health concerns we should monitor for?
Common questions about Caudal appendage-deafness syndrome
What is Caudal appendage-deafness syndrome?
Caudal appendage-deafness syndrome is an extremely rare condition that is present from birth. It is characterized by two main features: a caudal appendage (a small tail-like growth at the base of the spine) and hearing loss (deafness). The caudal appendage is a soft, skin-covered projection found in the lower back or tailbone area. It may contain fat, connective tissue, or sometimes cartilage, but it does not contain bone or spinal cord tissue. The hearing loss associated with this syndrome can range from moderate to severe and may affect one or both ears. It is typically sensorineural, meanin
How is Caudal appendage-deafness syndrome inherited?
Caudal appendage-deafness syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Caudal appendage-deafness syndrome typically begin?
Typical onset of Caudal appendage-deafness syndrome is neonatal. Age of onset can vary across affected individuals.