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Townes-Brocks syndrome 1(TBS1)

MedGen UID:
1181450
Concept ID:
CN034849
Disease or Syndrome
Synonyms: Anus, imperforate, with hand, foot and ear anomalies; Deafness, sensorineural, with imperforate anus and hypoplastic thumbs; DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES; Renal-ear-anal-radial syndrome; TBS1; Townes-Brocks syndrome
 
Gene (location): SALL1 (16q12.1)
OMIM®: 107480

Definition

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 and/or conductive hearing impairment [65%]), and thumb malformations (89%; triphalangeal thumbs, duplication of the thumb [preaxial polydactyly], and rarely hypoplasia of the thumbs). Renal impairment (42%), including end-stage renal disease (ESRD), may occur with or without structural abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, polycystic kidneys, vesicoutereral reflux). Congenital heart disease occurs in 25%. Foot malformations (52%; flat feet, overlapping toes) and genitourinary malformations (36%) are common. Intellectual disability occurs in approximately 10% of individuals. Rare features include iris coloboma, Duane anomaly, Arnold-Chiari malformation type 1, and growth retardation. [from GTR]

Additional descriptions

From GeneReviews
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 and/or conductive hearing impairment [65%]), and thumb malformations (89%; triphalangeal thumbs, duplication of the thumb [preaxial polydactyly], and rarely hypoplasia of the thumbs). Renal impairment (42%), including end-stage renal disease (ESRD), may occur with or without structural abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, polycystic kidneys, vesicoutereral reflux). Congenital heart disease occurs in 25%. Foot malformations (52%; flat feet, overlapping toes) and genitourinary malformations (36%) are common. Intellectual disability occurs in approximately 10% of individuals. Rare features include iris coloboma, Duane anomaly, Arnold-Chiari malformation type 1, and growth retardation.  https://www.ncbi.nlm.nih.gov/books/NBK1445
From OMIM
Townes-Brocks syndrome-1 (TBS1) is characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease (Webb et al., 2017). Genetic Heterogeneity of Townes-Brocks Syndrome Townes-Brocks syndrome-2 (TBS2; 617466) is caused by mutation in the DACT1 gene on chromosome 14q23.  http://www.omim.org/entry/107480
From GHR
Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumb. Most people with this condition have at least two of these three major features.Other possible signs and symptoms of Townes-Brocks syndrome include kidney abnormalities, mild to profound hearing loss, heart defects, and genital malformations. These features vary among affected individuals, even within the same family. Intellectual disability or learning problems have also been reported in about 10 percent of people with Townes-Brocks syndrome.  https://ghr.nlm.nih.gov/condition/townes-brocks-syndrome

Recent clinical studies

Etiology

Elkaiali L, Ratliff K, Oueis H
J Mich Dent Assoc 2016 Jan;98(1):32-4. PMID: 26882646
Morisada N, Sekine T, Ishimori S, Tsuda M, Adachi M, Nozu K, Nakanishi K, Tanaka R, Iijima K
Pediatr Int 2014 Oct;56(5):e75-8. doi: 10.1111/ped.12426. PMID: 25336016
Liang Y, Shen D, Cai W
J Pediatr Surg 2008 Feb;43(2):391-3. doi: 10.1016/j.jpedsurg.2007.09.079. PMID: 18280297
Wang RY, Earl DL, Ruder RO, Graham JM Jr
Pediatrics 2001 Aug;108(2):E32. PMID: 11483842

Diagnosis

Lawrence C, Hong-McAtee I, Hall B, Hartsfield J, Rutherford A, Bonilla T, Bay C
Am J Med Genet A 2013 Sep;161A(9):2266-73. Epub 2013 Jul 25 doi: 10.1002/ajmg.a.36104. PMID: 23894113Free PMC Article
Faguer S, Pillet A, Chassaing N, Merhenberger M, Bernadet-Monrozies P, Guitard J, Chauveau D
Nephrol Dial Transplant 2009 Apr;24(4):1341-5. Epub 2009 Feb 9 doi: 10.1093/ndt/gfp014. PMID: 19204018
Barry JS, Reddy MA
Ophthalmic Genet 2008 Dec;29(4):177-80. doi: 10.1080/13816810802354224. PMID: 19005989
Liang Y, Shen D, Cai W
J Pediatr Surg 2008 Feb;43(2):391-3. doi: 10.1016/j.jpedsurg.2007.09.079. PMID: 18280297
Unuigbe EI, Azubike CA, Okaka EI, Osarenkhoe JO, Onuora VC
Niger J Clin Pract 2007 Mar;10(1):91-4. PMID: 17668723

Prognosis

Liang Y, Shen D, Cai W
J Pediatr Surg 2008 Feb;43(2):391-3. doi: 10.1016/j.jpedsurg.2007.09.079. PMID: 18280297
Ma Y, Singer DB, Gozman A, Ford D, Chai L, Steinhoff MM, Hansen K, Maizel AL
Pediatr Nephrol 2001 Sep;16(9):701-9. doi: 10.1007/s0046710160701. PMID: 11511981
Salerno A, Kohlhase J, Kaplan BS
Pediatr Nephrol 2000 Jan;14(1):25-8. PMID: 10654325
Marlin S, Blanchard S, Slim R, Lacombe D, Denoyelle F, Alessandri JL, Calzolari E, Drouin-Garraud V, Ferraz FG, Fourmaintraux A, Philip N, Toublanc JE, Petit C
Hum Mutat 1999;14(5):377-86. doi: 10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A. PMID: 10533063
Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W
Nat Genet 1998 Jan;18(1):81-3. doi: 10.1038/ng0198-81. PMID: 9425907

Clinical prediction guides

Faguer S, Pillet A, Chassaing N, Merhenberger M, Bernadet-Monrozies P, Guitard J, Chauveau D
Nephrol Dial Transplant 2009 Apr;24(4):1341-5. Epub 2009 Feb 9 doi: 10.1093/ndt/gfp014. PMID: 19204018
Ma Y, Singer DB, Gozman A, Ford D, Chai L, Steinhoff MM, Hansen K, Maizel AL
Pediatr Nephrol 2001 Sep;16(9):701-9. doi: 10.1007/s0046710160701. PMID: 11511981
Salerno A, Kohlhase J, Kaplan BS
Pediatr Nephrol 2000 Jan;14(1):25-8. PMID: 10654325
Doray B, Langer B, Stoll C
Genet Couns 1999;10(4):359-67. PMID: 10631923
Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W
Nat Genet 1998 Jan;18(1):81-3. doi: 10.1038/ng0198-81. PMID: 9425907

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