Townes-Brocks Syndrome
Senast uppdaterad 18 aug 2020
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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 affect the thumbs. People with this condition often have at least two of these three major features.
Beskrivning
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 affect the thumbs. People with this condition often have at least two of these three major features.
Other signs and symptoms of Townes-Brocks syndrome can include kidney abnormalities, mild to profound hearing loss, eye abnormalities, heart defects, foot abnormalities, and genital malformations. These features vary among affected individuals, even within the same family. Mild intellectual disability or learning problems have been reported in about 10 percent of people with Townes-Brocks syndrome.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Anal-ear-renal-radial malformation syndrome
Deafness-imperforate anus-hypoplastic thumbs syndrome
Imperforate anus-hand and foot anomalies syndrome
Renal-ear-anal-radial syndrome (REAR)
Sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome
Townes syndrome
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Vidare läsning och referenser
- Townes-Brocks Syndrome; MedlinePlus, National Library of Medicine.
- Botzenhart EM, Bartalini G, Blair E, Brady AF, Elmslie F, Chong KL, Christy K, Torres-Martinez W, Danesino C, Deardorff MA, Fryns JP, Marlin S, Garcia-Minaur S, Hellenbroich Y, Hay BN, Penttinen M, Shashi V, Terhal P, Van Maldergem L, Whiteford ML, Zackai E, Kohlhase J. Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat. 2007 Feb;28(2):204-5. doi: 10.1002/humu.9476.
- Botzenhart EM, Green A, Ilyina H, Konig R, Lowry RB, Lo IF, Shohat M, Burke L, McGaughran J, Chafai R, Pierquin G, Michaelis RC, Whiteford ML, Simola KO, Rosler B, Kohlhase J. SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. Hum Mutat. 2005 Sep;26(3):282. doi: 10.1002/humu.9362.
- Bozal-Basterra L, Martin-Ruiz I, Pirone L, Liang Y, Sigurethsson JO, Gonzalez-Santamarta M, Giordano I, Gabicagogeascoa E, de Luca A, Rodriguez JA, Wilkie AOM, Kohlhase J, Eastwood D, Yale C, Olsen JV, Rauchman M, Anderson KV, Sutherland JD, Barrio R. Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome. Am J Hum Genet. 2018 Feb 1;102(2):249-265. doi: 10.1016/j.ajhg.2017.12.017.
- de Celis JF, Barrio R. Regulation and function of Spalt proteins during animal development. Int J Dev Biol. 2009;53(8-10):1385-98. doi: 10.1387/ijdb.072408jd.
- Graziano C, Olivucci G. SALL1-Related Townes-Brocks Syndrome. 2007 Jan 24 [updated 2025 Aug 14]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1445/
- Keegan CE, Mulliken JB, Wu BL, Korf BR. Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. Genet Med. 2001 Jul-Aug;3(4):310-3. doi: 10.1097/00125817-200107000-00007.
- Kiefer SM, Ohlemiller KK, Yang J, McDill BW, Kohlhase J, Rauchman M. Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. Hum Mol Genet. 2003 Sep 1;12(17):2221-7. doi: 10.1093/hmg/ddg233. Epub 2003 Jul 15.
- Powell CM, Michaelis RC. Townes-Brocks syndrome. J Med Genet. 1999 Feb;36(2):89-93.
Artikelhistorik
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18 aug 2020 | Senaste versionen
1 Jun 2020 | Ursprungligen publicerad
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