Description
Townes-Brockes syndrome is a genetic condition characterized by deformities in several parts of the body. Obstruction or lack of anal opening (imperforate anus) misshapen ears, and malformation of the hand—usually the thumb. People diagnosed with the syndrome usually display at least three of these characteristics. People with the syndrome may also have kidney abnormalities, some degree of hearing loss, heart defects, and genital deformities. The combination of the symptoms may vary by individual. Although it is not really a characteristic of the syndrome , some 10% of those with Townes-Brocks syndrome showed signs of mental disability.
The syndrome has sometimes been referred to as the following: deafness, sensorineural, with imperforate anus and hypoplastic thumbs; imperforate anus with hand, foot and ear anomalies; or, simply, Townes syndrome.
Occurrence
How prevalent the syndrome is has remained unknown. It overlaps with other syndromes and could have been mistaken as something else. It seems to be hereditary. People with the syndrome tend to have a father with a defective thumb. It can occur in about several generations of a family.
One study estimates that the syndrome occur in 1 in every 250,000 persons.
Typical Symptoms
The most common symptom of Townes-Brocks is the lack of a anal opening or imperforate anus. In addition, the patient may have small ears with some deformity like folded portions of the ear. The patient may also suffer from hearing problems. This hearing impairment can be progressive. The patient may also suffer from thumb malformation. They may also have deformities in the feet but this manifests less frequently. Kidney problems seem to occur frequently. Dysfunctions though may occur without deformities. Kidney malformations can occur in various forms: from twisted to misshapen kidneys. Malformation can occur in other parts of the body. The patient may even have heart problems. Approximately 10% of afflicted individuals suffer from mental retardation.
Currently Available Treatment
Treatment of the syndrome requires that each of the systems separately. Each symptom will have to be addressed as these symptoms would have been checked and treated.
For the malformations, surgery would be the necessary treatment.
For possible problems with internal organs, ultrasound may be necessary. Other diagnostic examinations may need to be undertaken. For instance, hearing tests should be given if the syndrome is suspected.
Possible Areas of Project Focus
Since the illness is hereditary, research may need to be done on how to stop the syndrome from manifesting. Subjects with potential for the syndrome can already be identified. The gene causing the disease seems to be known already. What may be studied is how prenatal intervention could avert the syndrome from occurring, perhaps through medication.
Works Cited
NORD. "Townes Brocks Syndrome." 2015. National Organization for Rare Disorders. Web. 22 Feb 2016. <http://rarediseases.org/rare-diseases/townes-brocks-syndrome/>.
Powell, Cynthia M and Ron C Michaelis. "Townes-Brocks Syndrome." Journal of Medical Genetics 36.2 (1999): 89-94. 22 Feb 2016. <http://jmg.bmj.com/content/36/2/89.full>.
US National Library of Medicine; US National Institutes of Health. "Townes-Brocks Syndrome." Oct 2007. Genetics Home Reference. US National Library of Medicine; US National Institutes of Health. PDF. 22 Feb 2016. <http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome>.
