Omphalocele syndrome, Shprintzen-Goldberg type is a rare genetic disorder characterized by a wide range of physical and developmental abnormalities. It is caused by a mutation in the TBX1 gene. Symptoms may include omphalocele (a protrusion of the abdominal organs through the navel), heart defects, cleft palate, kidney abnormalities, and intellectual disability. Other features may include low-set ears, small jaw, and webbed neck. Treatment is based on the individual's symptoms and may include surgery, medications, and physical and occupational therapy.

The symptoms of Omphalocele Syndrome, Shprintzen-Goldberg type, include:

-Abdominal wall defect (omphalocele)
-Cleft palate
-Heart defects
-Kidney abnormalities
-Hearing loss
-Growth delays
-Developmental delays
-Cognitive delays
-Facial dysmorphism
-Feeding difficulties
-Gastrointestinal problems
-Hypotonia
-Joint laxity
-Scoliosis
-Genital abnormalities
-Cleft lip
-Cleft uvula
-Cleft soft palate
-Cleft hard palate
-Cleft alveolus
-Cleft tongue
-Cleft chin
-Cleft lip and palate
-Cleft lip and alveolus
-Cleft lip and tongue

Omphalocele syndrome, Shprintzen-Goldberg type is a rare genetic disorder caused by a mutation in the ZFHX1B gene. This gene is responsible for the production of a protein that helps regulate the development of the heart, face, and other organs. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal dominant pattern. Other possible causes include environmental factors, such as exposure to certain chemicals or radiation.

1. Surgery: Surgery is the primary treatment for Omphalocele syndrome, Shprintzen-Goldberg type. The goal of surgery is to close the abdominal wall defect and to place the abdominal organs back into the abdomen.

2. Genetic counseling: Genetic counseling is recommended for individuals with Omphalocele syndrome, Shprintzen-Goldberg type and their families. This counseling can help them understand the condition and the risks associated with it.

3. Physical therapy: Physical therapy can help individuals with Omphalocele syndrome, Shprintzen-Goldberg type to improve their strength and mobility.

4. Occupational therapy: Occupational therapy can help individuals with Omphalocele syndrome, Shprintzen-Goldberg type to improve their ability to perform daily activities.

5. Speech therapy: Speech therapy can help individuals

1. Family history of Omphalocele syndrome, Shprintzen-Goldberg type
2. Maternal diabetes
3. Maternal obesity
4. Maternal advanced age
5. Maternal use of certain medications during pregnancy
6. Maternal exposure to certain environmental toxins during pregnancy
7. Maternal infection during pregnancy
8. Maternal smoking during pregnancy
9. Maternal alcohol use during pregnancy
10. Maternal malnutrition during pregnancy

At this time, there is no cure for Omphalocele Syndrome, Shprintzen-Goldberg type. Treatment is focused on managing the symptoms and complications associated with the condition. This may include medications to treat associated conditions such as heart defects, breathing problems, and gastrointestinal issues. Surgery may be necessary to repair the omphalocele and other birth defects. Physical and occupational therapy may also be recommended to help with any developmental delays.