Gastrointestinal Defects And Immunodeficiency Syndrome 1

Alternative Names

  • GIDID1
  • Multiple Intestinal Atresia and/or Inflammatory Bowel Disease with or without Immunodeficiency
  • Intestinal Atresia, Multiple
  • MINAT
  • Familial Intestinal Polyatresia Syndrome
  • FIPA
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

OMIM Number

243150

Mode of Inheritance

Autosomal Recessive

Gene Map Locus

2p21

Description

Hereditary multiple intestinal atresia is an extremely rare subgroup of intestinal atresias, with an autosomal recessive mode of inheritance. It presents a unique combination of clinical, radiological and pathological findings and is secondary to a malformative process taking place early in intrauterine life and effecting the whole gastrointestinal tract. Multiple intestinal atresia is mainly characterized by multiple and widespread atresias extending mostly from pylorus to rectum, intraluminal calcifications on plain abdominal roentgenogram, and an invariably fatal outcome. Cystic dilatation of the bile ducts can be present in cases with both complete pyloric and duodenal or proximal jejunal atresia.

Epidemiology in the Arab World

View Map

Other Reports

Lebanon

In 1971, Mishalany and Der Kaloustian first reported multiple-level intestinal atresia in two siblings of distantly related parents.

United Arab Emirates

Nawaz et al. (1999) conducted a retrospective study to evaluate patients with neonatal intestinal atresia. Twenty-one consecutive newborns with intestinal atresia were observed between 1982 and 1997. Eleven patients (eight males and three females) had small bowel atresias. Two of them had multiple intestinal atresias and in one of them there was an associated colonic atresia. [Nawaz A, Matta H, Jacobsz AW, Shawis R, Al-Salem AH. Neonatal Intestinal Atresia. Saudi Med J. 1999; 6:438-43.]

© CAGS 2024. All rights reserved.