Living with Caudal appendage-deafness syndrome
A rare condition with a tail-like growth at birth, hearing loss, short stature, and intellectual disability.
Understanding Caudal appendage-deafness syndrome
Other features include short end bones in the fingers and toes, undescended testes, intellectual disability, short stature, and differences in facial shape. It has been described in identical twin boys. It begins in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tail-like growth at the base of the spine
- Hearing loss starting in infancy
- Intellectual disability
- Short stature
- Undescended testes
- Differences in the fingers or toes
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. No specific gene or inheritance pattern is listed.
Also known as: caudal appendage deafness syndrome; caudal appendage-hearing loss syndrome; lynch lee murday syndrome; lynch-lee-murday syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Caudal appendage-deafness syndrome.
Explore research for Caudal appendage-deafness syndrome
Explore actively recruiting Caudal appendage-deafness syndrome studies with HealthSpark.
Find actively recruiting studies for Caudal appendage-deafness syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Caudal appendage-deafness syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Caudal appendage-deafness syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Caudal appendage-deafness syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.