Intestinal atresia
Intestinal atresia is a malformation where there is a narrowing or absence of a portion of the intestine. This defect can either occur in the small or large intestine.
Types of intestinal atresia
The different types of intestinal atresia are named after their location:
Duodenal atresia - malformation of the duodenum, part of the intestine that empties from the stomach
Jejunal atresia - malformation of the jejunum, the second part of the intestine extending from the duodenum to the ileum
Ileal atresia - malformation of the ileum, the lower part of the small intestine
Colon atresia - malformation of the colon
Duodenal atresia has a strong association with Down syndrome. It is the most common type, followed by ileal atresia.
An inherited form - familial multiple intestinal atresia - has also been described. This disorder was first reported in 1971. It is due to a mutation in the gene TTC7A on short arm of chromosome 2 (2p16). It is inherited as an autosomal recessive gene and is usually fatal in infancy.
