About townes syndrome

What is townes syndrome?

General Discussion

Townes-Brocks syndrome (TBS) is an autosomal dominant genetic disorder characterized by absence of the anal opening (imperforate anus), abnormal ears associated with hearing impairment and thumb malformations. Abnormalities in the feet, heart and kidneys also occur frequently. Townes-Brocks syndrome is associated with a mutation in the SALL1 gene.

What are the symptoms for townes syndrome?

There are three major symptoms of TBS: A closed anal opening (imperforate anus), small ears that usually have a folded rim of skin and cartilage around the outer ear, and differences in the structures of the thumbs. The thumbs have three Bones (triphalangeal) instead of two. People with this syndrome may also have an extra thumb (preaxial polydactyly). Another symptom may be hearing loss present at birth (congenital). The hearing loss can be sensorineural and/or conductive, range from mild to severe and may be progressive. Differences in the feet occur less frequently and include a short third toe, overlapping toes and flat feet. Typical kidney (renal) differences include displaced or rotated kidneys, horseshoe kidney, polycystic kidneys and underdeveloped kidneys. There can also be heart and genital problems present at birth. Intellectual disability occurs in about 10% of affected individuals.

What are the causes for townes syndrome?

TBS is caused by a harmful genetic change (mutation) in a gene called SALL1. The SALL1 gene has instructions for the body to form certain tissues and organs such as the hands (particularly the thumbs), ears, anus and kidneys. Humans should have two working copies of the SALL1 gene, but people with TBS have one copy of the gene that does not work properly.

There is also evidence that this condition could be caused by a mutation in the DACT1 gene, but a mutation in the SALL1 gene is the more common cause.

TBS is inherited in an autosomal dominant manner. Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular disease. The non-working gene can be inherited from either parent or can be the result of a changed (mutated) gene in the affected individual. The risk of passing the non-working gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.

What are the treatments for townes syndrome?

Treatment includes surgery to correct the differences of the anus and thumbs. Hearing evaluation should be conducted if TBS is suspected. Ultrasound and laboratory tests should be performed to monitor kidney function. A baseline echocardiogram should be performed by a cardiologist.

Genetic counseling is recommended for affected individuals and their families.

Is there a cure/medications for townes syndrome?

Townes Brocks syndrome is a hereditary disorder that has an impact on several physiological systems.

  • The imperforate anus, dysplastic ears, and hand deformities, which most frequently affect the thumbs, are the characteristics of Townes-Brocks syndrome that are most frequently observed.
    •These three key characteristics are frequently present in at least two Townes Brocks syndrome patients.
    •Other Townes-Brocks syndrome symptoms and signs include renal abnormalities, mild to severe hearing loss, abnormalities of the eyes, heart, feet, and genitalia. •Even within the same family, these characteristics differ between those who are affected. 10% of patients with Townes-Brocks syndrome have been observed to have a mild intellectual handicap or learning issues.
  • Surgery is frequently needed to treat the abnormalities associated with Townes-Brocks syndrome.
    •If Townes Brocks syndrome is suspected, a hearing evaluation should be done.
    •To evaluate kidney function with hemodialysis and possibly kidney transplantation for end-stage renal disease, ultrasound and laboratory testing should be carried out (ESRD).
    •When a cardiologist performs surgery or prescribes medication for a patient with congenital heart abnormalities, they should first do a baseline echocardiography. •Ophthalmology examination to assess for abnormal Duane anomaly and Townes Brocks syndrome ocular characteristics.
Kidney abnormalities,Mild to profound hearing loss,Eye abnormalities,Heart defects,Foot abnormalities,Genital malformations

Malformation of the anal opening (imperforate anus),Abnormally shaped ears,Hand malformations that most often affect the thumbs


Video related to townes syndrome