Townes-Brocks syndrome 1

Townes-Brocks syndrome 1 is a rare genetic condition that is known to affect several parts of the body. People with this condition may have changes that affect the formation of the hands, feet, ears, and anus, and some may also experience kidney issues. While detailed definitions are not available, the condition is recognized as having a variety of features that make each case unique. This syndrome has been linked to changes in the SALL1 gene. Although specific details on disease progression are limited, the information available points to a condition that affects multiple body systems, leading to physical differences that are evident at birth.

People with Townes-Brocks syndrome 1 may present with a range of physical findings. Reported features include abnormalities in the ear that can affect hearing, malformations of the hand such as thumb anomalies, differences in foot structure, and issues related to the anus, such as imperforate anus. Kidney anomalies have also been noted in some cases.

Townes-Brocks syndrome 1 is caused by changes in the SALL1 gene. This gene plays an important role in early development, and alterations in it are linked to the development of the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.