Living with Townes syndrome
A genetic condition, also called Townes-Brocks syndrome, with ear, hand, and anal differences and sometimes kidney or hearing problems.
Understanding Townes syndrome
The most common features are a blocked or missing anal opening (imperforate anus), differently shaped ears, and hand differences that most often affect the thumbs. People often have at least two of these three. Features vary, even in one family. Mild learning problems or intellectual disability have been reported in about 10 percent of people.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blocked or missing anal opening (anal atresia)
- Differently shaped or small ears
- Hand differences, such as extra or three-boned thumbs
- Hearing impairment
- Kidney problems
- Foot differences, such as flat feet
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 bone and joint specialists, digestive 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Digestive system specialists (gastroenterologists); 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 Pull-thru Network
- 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 (variants) cause this condition and that it is autosomal dominant, so one changed copy of a gene can be enough. It doesn't name a specific gene.
Also known as: imperforate anus with hand, foot and ear anomalies; imperforate anus-hand, foot and ear anomalies syndrome; rear syndrome; renal-ear-anal-radial syndrome; sensorineural deafness with imperforate anus and hypoplastic thumbs; sensorineural hearing loss with imperforate anus and hypoplastic thumbs
Patient organizations
- Pull-thru NetworkTownes syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Townes syndrome.
Explore research for Townes syndrome
Explore actively recruiting Townes syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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