Goldberg-Shprintzen megacolon syndrome

Disease Overview

Goldberg-Shprintzen megacolon syndrome (GOSHS) is a very rare genetic condition characterized by a swollen, irritated colon (megacolon); characteristic facial features; a small head, and intellectual disability.[5874] Most people with GOSHS also are born with Hirschsprung disease, a condition in which the colon is missing nerve cells, leading to intestinal blockage.[15315] Some patients with this condition have a defect in the iris of the eye (coloboma), brain and other central nervous system abnormalities, an opening in the roof of the mouth (cleft palate) and short stature. This condition is caused by changes (mutations) in the KIAA1279 (also known as K1F1BP) gene, and appears to be inherited in an autosomal recessive pattern.[15315][15316] GOSHS is diagnosed based on the signs and symptoms and through genetic testing. Treatment is based on the symptoms and may include surgery.[15317] This condition has been described in only about 15 individuals to date, and the long-term outlook for people with GOSHS is unclear. 

Synonyms

• Goldberg-Shprintzen syndrome
• GOSHS