Townes-Brocks syndrome (TBS)

What is Townes-Brocks syndrome?

Townes-Brocks syndrome is a rare genetic syndrome with multiple malformations.

Syndrome Synonyms:

Anus, Imperforate, with Hand, Foot, and Ear Anomalies; Deafness, Sensorineural, with Imperforate Anus and Thumb Anomalies; Rear Syndrome; Renal-ear-anal-radial Syndrome; TBS Townes-Brocks syndrome

What gene change causes Townes-Brocks syndrome?

Mutations in SALL1 gene are responsible for the type 1 of this syndrome; DACT1 for type 2. Both types have autosomal dominant inheritance

What are the main symptoms of Townes-Brocks syndrome?

  • Hand and Foot Abnormalities: Common features include extra fingers or toes (polydactyly), malformed thumbs, or fused fingers (syndactyly).
  • Ear and Hearing Issues: Structural abnormalities of the ears, such as small or malformed ears, and hearing loss, which can range from mild to severe.
  • Kidney and Anorectal Malformations: Kidney problems may include abnormal structure or function, while anorectal malformations often include imperforate anus or abnormal placement of the anus.

Possible clinical traits/features:
Rectoperineal fistula, Pseudoepiphyses of second metacarpal, Urethral valve, Ulnar deviation of finger, Short metatarsal, Stahl ear, Urogenital fistula, Microcephaly, Strabismus, Ventricular septal defect, Tetralogy of Fallot, Umbilical hernia, Metatarsal synostosis, Preaxial foot polydactyly, Autosomal dominant inheritance, Sensorineural hearing impairment, Renal hypoplasia, Toe syndactyly, Preauricular skin tag, Pes planus, Overfolding of the superior helices, Partial duplication of thumb phalanx, Patent ductus arteriosus, Renal dysplasia, Rectovaginal fistula, Wide mouth, Vesicoureteral reflux, Renal insufficiency, Preaxial hand polydactyly, Hypothyroidism, Visual impairment, Hypospadias, Duane anomaly, Cognitive impairment, Gastroesophageal reflux, Hearing impairment, Short stature, Hypoplasia of penis, Intellectual disability, Iris coloboma, Microtia, Multicystic kidney dysplasia, Preauricular pit, Macrotia, 3-4 toe syndactyly, 3-4 finger syndactyly, 2-4 finger syndactyly, 2-3 toe syndactyly.

How is it diagnosed?

To find out if someone has a diagnosis of Townes-Brocks syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.  

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