Townes Brocks Syndrome

These flashcards cover key vocabulary and concepts related to Townes-Brocks Syndrome, including its genetic basis, symptoms, and treatment.

Townes-Brocks Syndrome (TBS)

An autosomal dominant genetic disorder characterized by various malformations, primarily affecting the kidneys, ears, and heart.

Autosomal Dominant

A type of genetic inheritance in which only one copy of an abnormal gene is sufficient to cause the appearance of the disease.

Microtia

A congenital condition where the external ear is underdeveloped or absent, commonly seen in Townes-Brocks Syndrome.

Sensorineural Hearing Loss

A type of hearing loss caused by damage to the inner ear or to the auditory nerve, often observed in individuals with TBS.

SALL1 gene

A developmental gene associated with Townes-Brocks Syndrome, responsible for making proteins involved in the formation of organs and tissues.

Kidney Dysfunction in TBS

Commonly presents in individuals with Townes-Brocks Syndrome, although kidney malformation may not always occur.

Treatment for TBS

Typically involves surgical procedures for anomalies like imperforate anus and limb malformations, and early intervention for hearing loss.

Dysplastic Ears

Abnormally developed ears, found in a majority (87%) of Townes-Brocks Syndrome cases.

Chromosome 16

The chromosome where the SALL1 gene is located, mutations in which can lead to Townes-Brocks Syndrome.

Physical Abnormalities

Anomalies in body structure such as ear, thumb, and kidney malformations that are commonly seen in TBS.