Goldberg-Shprintzen syndrome

Goldberg-Shprintzen syndrome is a rare condition that involves multiple physical differences. This syndrome is marked by problems with the colon known as Hirschsprung megacolon, a smaller than normal head (microcephaly), eyes that are spaced wider than usual (hypertelorism), a cleft area in the roof of the mouth (submucous cleft palate), shorter stature, and learning difficulties. People with this condition may be diagnosed with a combination of these features. The syndrome is sometimes referred to by other names such as GOSHS, Goldberg-Shprintzen megacolon syndrome, or megacolon-microcephaly syndrome.

Common signs of Goldberg-Shprintzen syndrome include Hirschsprung megacolon, which affects the function of the colon, as well as microcephaly, hypertelorism, submucous cleft palate, short stature, and learning disability. These symptoms can vary in how they affect people with the condition.

Goldberg-Shprintzen syndrome is linked to changes in the KIFBP gene. The syndrome is genetic in nature, which means it arises from inherited changes. More detailed information about specific inheritance patterns is not provided in the available sources.

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.