COACH syndrome 1

COACH syndrome 1 is a rare genetic condition caused by a variation in the TMEM67 gene. It is known by other names such as cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis. These names refer to different features that may be seen in the condition, affecting the brain and other organs.

People with this condition may show a range of symptoms. Some may have problems with movement and balance due to issues with the cerebellum. Others may have eye issues like coloboma and liver problems such as hepatic fibrosis. In some cases, developmental delays or other neurological challenges may also be observed.

COACH syndrome 1 is caused by a variation in the TMEM67 gene. This genetic change affects normal development, leading to a mix of symptoms involving the brain, eyes, and liver.

Information about treatment options is currently limited for this condition. Management is usually focused on helping with the individual symptoms and improving quality of life.

Information about prognosis is currently limited for this condition. The outlook for people with COACH syndrome 1 can vary, and the outcome depends on the types and severity of the symptoms present.

Information about current research is currently limited for this condition. Research efforts continue to better understand the genetic causes and effects of COACH syndrome 1, which may lead to improved diagnosis and care in the future.