Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies

Townes, Philip L.; Brocks, Eric R.

doi:10.1016/s0022-3476(72)80302-0

Cited by 174Congenital limb and hand anomaliesCongenital gastrointestinal and neural anomaliesCongenital Ear and Nasal Anomalies

Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies

Townes, Philip L., Brocks, Eric R.·1972·The Journal of Pediatrics

DOI 10.1016/s0022-3476(72)80302-0

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Mutations in SALL1 cause Townes-Brocks syndrome.
“TBS is caused by heterozygous mutation of SALL1 creating frameshifts and loss of functional domains and leading to a symptomatic triad of anal, thumb and ear malformations”
From Tetramerisation governs SALL transcription factor function in development and disease (2025) · cites this paper as [26]
TBS is caused by heterozygous mutation of SALL1 creating frameshifts and loss of functional domains.
“TBS is caused by heterozygous mutation of SALL1 creating frameshifts and loss of functional domains and leading to a symptomatic triad of anal, thumb and ear malformations”
From Tetramerisation governs SALL transcription factor function in development and disease (2025) · cites this paper as [26]

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“described by Townes and Brocks (1972) as an association of imperforate anus, supernumerary thumbs, mal-”
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Townes-Brocks syndrome
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“Townes and Brocks first described the syndrome in 1972.”
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“were shown to result in Townes-Brocks syndrome, an autosomal dominantly inherited malformation syndrome characterised by malformations of the anus, hands, and ears as well as deafness.”
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“These abnormalities of the carpal bones are identical to those described in the original patient reports by Townes and Brocks ( 13 ).”
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“SALL1 mutations result in Townes-Brock Syndrome (TBS) characterized by malformation of the anus, genitalia, and limbs, kidney defects, mental retardation, and hearing loss (Townes and Brocks, 1972; Kohlhase et al., 1998).”
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“—Townes-Brocks syndrome (TBS, MIM 107480) was first described by Townes and Brocks”
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“TBS Townes and Brocks first described the syndrome in 197”
Background
The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia.
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“Humans and mice with mutations in Sall1 (SALL1; TownesBrocks disorder) exhibit renal, ear, limb, anal, and cardiac abnormalities (21, 25, 42, 53).”
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Transcriptional Activation of the SALL1 by the Human SIX1 Homeodomain during Kidney Development*
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“ARM has been reported in association with the TownesBrocks [85], Walker–Warburg [87, 111], Ivemark [87, 112], foetal alcohol, Klippel–Feil, Pallister–Hall [84], FG syndrome [113], Kaufman-McKusick [83]and Lowe [86] syndromes as well as the Facio-auriculo-vertebral spectrum, deletion 22q11.”
BackgroundResult
Sall1 regulates cortical neurogenesis and laminar fate specification, implications for neural abnormalities in Townes Brocks Syndrome
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“TBS is characterized by multiple malformations with variable expression (Kohlhase et al., 1998; Townes and Brocks, 1972).”
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“Cameron et al. [ 1 ] reported two patients with TBS who also had mental retardation.”
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“Non‑chromosomal syndromes ARM has also been associated with non-chromosomal syndromes like the Townes– Brocks [45], Pallister–Hall [46], FG syndrome [47], Kaufman–McKusick [48], Currarino syndrome (CS) and caudal regression syndromes and other syndrome complexes.”
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“Townes-Brocks syndrome (TBS), firstly described in 1972 by Townes and Brocks [157], is a genetic condition with a variable pattern of malformation including imperforate anus, abnormally shaped ears and thumb anomalies, which can be hypoplastic, duplicated or triphalangeal (Fig.”
BackgroundInfluential
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“Townes-Brocks syndrome (TBS) is a rare autosomal dominant disorder characterized predominantly by renal, urogenital, anal, limb and ear anomalies [ 2 ].”
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Localization of dominantly inherited isolated triphalangeal thumb to chromosomal region 7q36
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The zinc finger transcription factor Sall1 is required for the early developmental transition of microglia in mouse embryos
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Background
SALL1 mutations in sporadic Townes–Brocks syndrome are of predominantly paternal origin without obvious paternal age effect
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Kidney failure in Townes–Brocks syndrome: An under recognized phenomenon?
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“Specific evidence supporting the involvement of the long arm of chromosome 13 (and thus the EDNRB gene) in ARM includes a number of associations with clinical syndromes such as Hirschsprung disease (HSCR) [15,24,25], Kaufman-McKusick [14], Pallister-Hall [15], sensorineural deafness (Townes-Brocks) [16], and Lowe [17]…”
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Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature.
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“Townes and Brocks [1] described in 1972 an autosomal dominant malformation syndrome presenting with imperforate anus, triphalangeal and supernumerary thumbs, fusion of metatarsals, absent bones, external ear anomalies (lop ears), and mild sensorineural deafness.”
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Exclusion of genes from the EYA‐DACH‐SIX‐PAX pathway as candidates for Branchio–Oculo–Facial syndrome (BOFS)
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The Genetics of Hand Malformations: Updated *
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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss
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“TBS was first reported in 1972 by Townes and Brocks, who described a family with congenital anorectal malformations (ARMs), polydactyly of the thumb, and other skeletal abnormalities (metatarsal fusion, missing thumb bones, and multifinger deformity) [5].”
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“In humans, anorectal malformations are often associated with syndromes: for example, Hirschsprung disease (Mahboubi and Templeton 1984), VACTERL (Khoury et al. 1983), and TownesBrocks (Townes and Brocks 1972) or the Pallister-Hall (Hall et al. 1980) syndrome.”
Background
Global Development of Research on Anorectal Malformations over the Last Five Decades: A Bibliometric Analysis
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“Introduction Townes-Brocks syndrome (TBS; OMIM 104,780) was first described by Townes and Brocks in 1972 as a rare autosomal dominant malformation syndrome [1].”
Background
Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease
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“Townes Townes-Brocks syndrome Geneticist Townes and Brocks (1972)”
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Endocrine Abnormalities in Townes–Brocks Syndrome
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“Preauricular tags are singled out amongst the various external ear anomalies mentioned as a possibly diagnostic sign of dominant type of inheritance of these associated anomalies (Kurnit et al. 1978, Pinsky 1978, Townes & Brocks 1972, Walpole & Hockey 1982).”
Background
Townes-Brocks syndrome with craniosynostosis in two siblings
Lugli, L., Rossi, C., Ceccarelli, P. L., Calabrese, O., Bedetti, L., Miselli, F., Bianchini, M. A., Iughetti, L., & Berardi, A. (2022) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2022.104642 · Cited by 5 · see citing works
Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature
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“Townes-Brocks syndrome (TBS, MIM#107480) is an autosomal dominant disorder historically characterized by the triad of thumb, external ear and anorectal malformations [1].”
Deletion upstream of SALL1 producing Townes–Brocks syndrome
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Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement.
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Exclusion of the SALL1 gene as a cause of branchio‐oculo‐facial syndrome
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Triphalangism and Pseudotriphalangism of the Thumb in Children
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A Genotyped Case of Townes–Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey
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Authors: Townes, P. L., & Brocks, E. R.
Affiliations: University of Rochester Medicine (US)
Corresponding author: Townes, Philip L.
Venue: The Journal of Pediatrics
Publisher: Elsevier BV
Published: 1972-08
Volume: 81
Issue: 2
Pages: 321-326
ISSN: 0022-3476 (ISSN-L)
DOI: 10.1016/s0022-3476(72)80302-0
OpenAlex: W2017924606
Cited by: 174
References: 28
Citations by year: 2026: 3 · 2025: 5 · 2024: 3 · 2023: 2 · 2022: 6 · 2021: 3 · 2019: 6 · 2018: 2 · 2017: 5 · 2016: 4 · 2015: 6 · 2014: 2 · 2013: 4 · 2012: 3
FWCI: 1.71
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: The Journal of Pediatrics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
Health Sciences › Medicine › Surgery › Congenital gastrointestinal and neural anomalies
Health Sciences › Medicine › Genetics › Congenital Ear and Nasal Anomalies
Keywords: imperforate anus, autosomal dominant syndrome, triphalangeal thumb, hand anomalies, foot anomalies, sensorineural hearing loss, genetic syndromes, congenital malformations
MeSH terms: Abnormalities, Multiple, Adult, Anus, Imperforate, Bone and Bones, Child, Child, Preschool, Deafness, Ear, External, Female, Foot Deformities, Congenital, Genes, Dominant, Hand Deformities, Acquired, Humans, Infant, Newborn, Male, Mutation, Pedigree, Syndrome, Thumb

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