Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Townes-Brocks syndrome

Townes-Brocks syndrome is a malformation syndrome which includes the cardinal symptoms imperforate anus, dysplastic ears, and thumb malformations. Occasionally seen are hearing loss, foot malformations, renal impairment, genitourinary malformations, and congenital heart disease. Two genes are known so far to cause this disorder which shows some overlap with branchiootorenal dysplasia.

Systematic

Inborn skeletal malformations
Al-Gazali-Bakalinova syndrome
Brachydactyly
Branchio-oculo-facial syndrome
Congenital contractural arachnodactyly
Ehlers-Danlos syndrome due to tenascin-X deficiency
Hydrolethalus 2
Lacrimoauriculodentodigital syndrome
Multiple synostoses syndrome
Multiple synostoses syndrome 3
Orofacial cleft 11
Orofaciodigital syndrome
Periodontal Ehlers-Danlos syndrome
Proximal symphalangism
Renal tubular acidosis with arthrogryposis
Simpson-Golabi-Behmel syndrome
Stapes ankylosis with broad thumbs and toes
Syndactyly type 5
Synpolydactyly type 1
Tarsal-carpal coalition syndrome
Tatton-Brown-Rahman syndrome
Townes-Brocks syndrome
SALL1
Townes-Brocks branchiootorenal-like syndrome
SALL1
Townes-Brocks syndrome 1
SALL1
Townes-Brocks syndrome 2
DACT1
Trigonocephaly 2
Van Maldergem syndrome 2

References:

1.

Serville F et al. (1993) Townes-Brocks syndrome in an infant with translocation t (5;16).

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2.

Kohlhase J et al. (1998) Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.

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3.

Engels S et al. (2000) A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype.

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4.

Surka WS et al. (2001) Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.

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5.

Albrecht B et al. (2004) Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation.

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6.

Botzenhart EM et al. (2005) SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.

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7.

Kosaki R et al. (2007) Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.

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8.

Furniss D et al. (2007) Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.

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9.

Kurnit DM et al. (1978) Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations.

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10.

None (1977) More on anal deformities.

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11.

Egan EA et al. (1977) Additional experience with routine use of oral kanamycin prophylaxis for necrotizing enterocolitis in infants under 1,500 grams.

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12.

Reid IS et al. (1976) Familial and abnormality.

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13.

Cameron TH et al. (1991) Townes-Brocks syndrome in two mentally retarded youngsters.

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14.

O'Callaghan M et al. (1990) The Townes-Brocks syndrome.

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15.

Ferraz FG et al. (1989) Townes-Brocks syndrome. Report of a case and review of the literature.

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16.

de Vries-Van der Weerd MA et al. (1988) A new family with the Townes-Brocks syndrome.

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17.

Silver W et al. (1972) The Holt-Oram syndrome with previously undescribed associated anomalies.

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18.

Townes PL et al. (1972) Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.

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19.

None (1984) Phenotypic variability in Townes-Brocks syndrome.

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20.

Walpole IR et al. (1982) Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness.

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21.

Johnson JP et al. (1996) Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum.

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22.

Ishikiriyama S et al. (1996) Townes-Brocks syndrome associated with mental retardation.

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23.

Newman WG et al. (1997) Townes-Brocks syndrome presenting as end stage renal failure.

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24.

Powell CM et al. (1999) Townes-Brocks syndrome.

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25.

Doray B et al. (1999) Two cases of Townes-Brocks syndrome.

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26.

Sudo Y et al. (2010) Phenotypic variability in a family with Townes-Brocks syndrome.

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27.

OMIM.ORG article

Omim 107480 [^]
28.

Orphanet article

Orphanet ID 857 [^]
29.

Wikipedia article

Wikipedia EN (Townes–Brocks_syndrome) [^]
Update: April 29, 2019