Townes-Brocks syndrome

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Synonyms: 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 | TBS | Townes syndrome

A rare genetic disorder characterized by the triad of imperforate anus dysplastic ears often associated with sensorineural and/or conductive hearing impairment and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Townes-Brocks syndrome?

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Advocacy Organizations

Help Hope Live

Help Hope Live supports community-based fundraising for people with unmet medical expenses and related costs due to cell and organ transplants or catastrophic injuries and illnesses. These efforts play a critical role in helping clients access the care and equipment they need to heal, live, and thrive. Unlock a powerful and safe way to raise funds for medical needs with Help Hope Live. They provide one-on-one fundraising guidance, a customizable Campaign Page, bill pay support, and additional benefits based on their 501(c)(3) nonprofit status.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.