Goldberg-Shprintzen megacolon syndrome
Overview
Goldberg-Shprintzen megacolon syndrome: A rare malformations syndrome characterized by abnormalities such as small head, eye problems, poor muscle tone, hearing problems and Hirschsprung megacolon where defective intestinal muscles are unable to move stool efficiently through the intestines.
Symptoms
The list of signs and symptoms mentioned in various sources for Goldberg-Shprintzen megacolon syndrome includes the 10 symptoms listed below: * Hirschsprung megacolon * Small head * Widely spaced eyes * Drooping upper eyelid * Submucous cleft palate * Hypotonia * Short stature * Hearing problems * Constipation * Swollen abdomen
Causes
* Constipation * Drooping upper eyelid * Hearing problems * Hypotonia * Short stature * Small head * Swollen abdomen * Widely spaced eyes
Treatment
* Digestive Health Specialists (Gastroenterology): o Gastroenterology o Pediatric Gastroenterology (Child Digestive Health)