Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. The most common form is infantile Tay–Sachs disease, which becomes apparent around three to six months of age, with the baby losing the ability to turn over, sit, or crawl. This is then followed by seizures, hearing loss, and inability to move, with death usually occurring by the age of three to five. Less commonly, the disease may occur in later childhood or adulthood (juvenile or late-onset). These forms tend to be less severe, but the juvenile form typically results in death by age 15.Tay–Sachs disease is caused by a genetic mutation in the HEXA gene on chromosome 15, which codes form a subunit of the hexosaminidase enzyme known as hexosaminidase A. It is inherited from a persons parents in an autosomal recessive manner. The mutation disrupts the activity of the enzyme, which results in the build-up of the molecule GM2 ganglioside within cells, leading to toxicity. Diagnosis may be supported by measuring the blood hexosaminidase A level or genetic testing. Tay–Sachs disease is a type of GM2 gangliosidosis and sphingolipidosis.The treatment of Tay–Sachs disease is supportive in nature. This may involve multiple specialities as well as psychosocial support for the family. The disease is rare in the general population. In Ashkenazi Jews, French Canadians of southeastern Quebec, the Old Order Amish of Pennsylvania, and the Cajuns of southern Louisiana, the condition is more common.
In some cases, stretching of the abdominal wall to accommodate intestinal contents may be required. Non-operative therapy uses escharotic ointments. This is used for infants with large omphaloceles that have been born prematurely with respiratory insufficiency and associated chromosomal defects, as they would not be able to tolerate surgery. The ointment causes the sac to granulate and epithelialize, which leaves a residual large ventral hernia, which can be repaired later with surgery when the baby is more stable. After surgery, for larger omphaloceles, mechanical ventilation and parenteral nutrition is needed to manage the baby. Society and culture
Awareness Day
International Omphalocele Awareness Day is celebrated annually in the US on January 31, as part of Birth Defect Awareness Month. Several U.S. states have passed resolutions to officially recognize the date. References

Omphalocele Diagnosis and Treatment at SSM Health St. Louis Fetal Care Institute
The Brown Fetal Treatment Program - Providence, Rhode Island at Brown University
Fetal Treatment Center: Omphalocele at UCSF
Gastroschisis Exomphalos Extrophies Parent Support (GEEPS)


== External links ==