Townes-Brocks syndrome
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 April 2024
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Townes-Brocks syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.