Townes Syndrome Medical

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Townes-Brocks Syndrome: MedlinePlus Genetics

https://medlineplus.gov/genetics/condition/townes-brocks-syndrome/

Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are a malformation of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often …

Townes-Brocks syndrome - Getting a Diagnosis

https://rarediseases.info.nih.gov/diseases/7784/townes-brocks-syndrome/diagnosis/

PCPs can provide referrals to specialists and can help manage and coordinate overall medical care. Types of PCPs include doctors practicing general medicine, family …

Townes–Brocks syndrome - Wikipedia

https://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome

Townes-Brocks Syndrome - National Organization for …

https://rarediseases.org/rare-diseases/townes-brocks-syndrome/

Townes-Brocks syndrome (TBS) is a genetic condition caused by a harmful change (mutation) in a gene called SALL1. Features include no anal opening …

Townes-Brocks Syndrome - GeneReviews® - NCBI …

https://www.ncbi.nlm.nih.gov/books/NBK1445/

Townes-Brocks syndrome (TBS) is characterized by the triad of imperforate anus (84%), dysplastic ears (87%; overfolded superior helices and preauricular tags; frequently associated with sensorineural …

Townes-Brocks syndrome | Journal of Medical Genetics

https://jmg.bmj.com/content/36/2/89

The gene for Townes-Brocks syndrome was mapped to 16q12.1 through identifying subjects with TBS and cytogenetic abnormalities.1-4 Mutations in a candidate gene, SALL1, have been found in one family and in an …

Townes-Brocks Syndrome - EyeWiki

https://eyewiki.aao.org/Townes-Brocks_Syndrome

Townes-Brocks Syndrome ICD-10-CM Q87.8 Disease. Townes-Brocks Syndrome (TBS) was first reported by Townes and Brocks in 1972 . They described it as a hereditary …

Townes-Brocks syndrome - About the Disease - Genetic …

https://rarediseases.info.nih.gov/diseases/7784/townes-brocks-syndrome/

About Townes-Brocks syndrome. Many rare diseases have limited information. Currently GARD aims to provide the following information for this disease: Population Estimate: …

Townes' syndrome | definition of Townes' syndrome by …

https://medical-dictionary.thefreedictionary.com/Townes%27+syndrome

syndrome (sĭn′drōm′) n. 1. A group of symptoms that collectively indicate or characterize a disease, disorder, or other condition considered abnormal. 2. a. A complex of symptoms …

Townes syndrome | definition of Townes syndrome by …

https://medical-dictionary.thefreedictionary.com/Townes+syndrome

Townes-Brocks syndrome (redirected from Townes syndrome ) A rare autosomal dominant syndrome (OMIM:107480) characterised by multiple malformations, including …

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