Gillessen-Kaesbach-Nishimura syndrome

Gillessen-Kaesbach-Nishimura syndrome is a rare genetic condition that is noted to include polycystic kidney disease along with distinct physical characteristics. The condition has also been referred to by several synonyms, including Potter type I with microbrachycephaly, hypertelorism, and brachymelia, as well as an autosomal recessive form of polycystic kidney disease with these additional features. Because detailed information is limited, the full spectrum of signs, symptoms, and the natural history of the condition is not well described. People with this condition may experience various manifestations relating to the kidneys and physical development, but more research is needed to understand all aspects of the syndrome.

Some of the physical features mentioned in the synonyms include microbrachycephaly (a smaller than normal head), hypertelorism (widely spaced eyes), and brachymelia (shortened limbs). Polycystic kidney disease is also noted as part of the syndrome. Additional details about symptoms are currently limited for this condition.

The syndrome is associated with changes in the ALG9 gene, and it appears to follow an autosomal recessive pattern of inheritance. This means that a person with the condition likely inherits two copies of the gene change. More detailed information on the causes is limited at this time.

Information about treatment options and management approaches is currently limited for this condition.

Information about the outlook and quality of life considerations for people with this condition is currently limited for this condition.

Current research and future directions for understanding and managing this syndrome are not well defined. More studies are needed to better understand all aspects of this condition.