Townes syndrome(TBS)

MedGen UID:: 75555
•Concept ID:: C0265246
•: Disease or Syndrome

Synonyms:	TBS; Townes-Brocks syndrome
SNOMED CT:	Townes Brocks syndrome (24750000); Townes syndrome (24750000)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0007142
OMIM®:	107480; 602218
OMIM® Phenotypic series:	PS107480
Orphanet:	ORPHA857

Definition

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. [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVTownes syndrome

Branchial arch or oral-acral syndrome
- Townes syndrome

Follow this link to review classifications for Townes syndrome in Orphanet.

Professional guidelines

PubMed

Anesthetic management for emergency cesarean section in a patient with Townes-Brocks syndrome.

Bojic S, Mihajlovic S
Int J Obstet Anesth 2024 Feb;57:103967. Epub 2023 Dec 1 doi: 10.1016/j.ijoa.2023.103967. PMID: 38155053

Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.

Bozal-Basterra L, Martín-Ruíz I, Pirone L, Liang Y, Sigurðsson JO, Gonzalez-Santamarta M, Giordano I, Gabicagogeascoa E, de Luca A, Rodríguez JA, Wilkie AOM, Kohlhase J, Eastwood D, Yale C, Olsen JV, Rauchman M, Anderson KV, Sutherland JD, Barrio R
Am J Hum Genet 2018 Feb 1;102(2):249-265. doi: 10.1016/j.ajhg.2017.12.017. PMID: 29395072 Free PMC Article

Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted.

van den Hondel D, Wijers CH, van Bever Y, de Klein A, Marcelis CL, de Blaauw I, Sloots CE, IJsselstijn H
Eur J Pediatr 2016 Apr;175(4):489-97. Epub 2015 Oct 24 doi: 10.1007/s00431-015-2655-9. PMID: 26498647 Free PMC Article

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