Centre for Arab Genomic Studies

A Division of Sheikh Hamdan Award for Medical Sciences

The Catalogue for Transmission Genetics in Arabs

CTGA Database

Jejunal Atresia

Alternative Names familial cases of types I, II, and IV have also been
Apple Peel Syndrome observed.
Apple Peel Small Bowel Syndrome
APSB Worldwide data on the incidence of jejunal atresia is
not available. However, the incidence of jejunal
Record Category atresia at birth in The Netherlands is estimated to be 1
Disease phenotype in 14,000.

WHO-ICD Molecular Genetics

Congenital malformations, deformations and N/A
chromosomal abnormalities > Other congenital
malformations of the digestive system Epidemiology in the Arab World
Kuwait
Incidence per 100,000 Live Births [See: Palestine > Farag and Teebi, 1989; Farag et al.,
6-10 1993].

OMIM Number Lebanon

243600
Mode of Inheritance
Autosomal Recessive
Gene Map Locus
N/A
Description
Jejunal atresia is a rare autosomal recessive genetic
disorder. Individuals with this disorder are born with
a partial absence of the fold of the stomach membrane
that connects the small intestine to the back wall of
the abdomen. As a result, one of the three portions of
the jejunal twists around the marginal artery of the
colon and causes an atresia. Symptoms in this
disorder include vomiting, a swollen abdomen, and
constipation. Jejunal atresia may be classified into 5
types according to anatomic appearance: type I
(mucosal web), type II (ends separated by a fibrous
cord), type IIIa (ends separated by a V-shaped
mesenteric defect), type IIIb ('apple peel' deformity),
and type IV (multiple atresias). Type IIIb most
commonly shows familial occurrence, although
Mishalany and Najjar (1968) reported three affected
Lebanese sibs with characteristic morphological
configuration of “Apple Peel” syndrome. Parents
were first cousins. The three sibs died after surgical
intervention. A fourth patient died at home with
congenital high intestinal obstruction, bringing the
number to 4 affected out of 18 offspring in this
family.
Oman
Weber and Freeman (1999) reported duodenojejunal
atresia with apple peel configuration of the ileum and
absence of the superior mesenteric artery in a baby of
consanguineous parents, who was born with typical
features of Down syndrome. He was born to a 38
years old mother who had four deaths of unknown
causes among her children, two preterm babies died
within the first two days and the other two died at the
ages of six and 20 days. By antenatal scan, this baby
was noticed to have a distended stomach and
duodenum with double bubble sign, and
polyhydramnios. At birth, he had features of Down
syndrome with a small ventricular septal defect
(VSD). Intestinal obstruction was suspected, and a
plain abdominal X-ray was done, which showed a

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dilated stomach, and air in the hepatobiliary tract with
no air beyond the duodenum. Laprotomy was done
on day three of life, which revealed a dilated
duodenum with absent third and fourth parts as well
as an absent jejunum, annular pancreas, non-ischemic
hypoplastic small bowel with a typical apple peel
configuration around a single marginal artery (fed
retrogradly from the left colic artery) which supplied
the remaining ileum and the colon. A large
mesenteric gap between the duodenum and jejunal
remnants was seen due to the absence of the superior
mesenteric artery which was found as a blind ended
stump. The duodenum was then anastamosed end-to-
end to the hypoplastic jejunum. Postoperatively, the
baby was kept on parenteral feeding for one week
with introduction of oral feeds by day six, and was
discharged home on day 23 on breast milk with a
weight of two kg and mild failure to thrive due to the
VSD. Histological examination revealed
calcifications of the serosal aspect of the atretic bowel
segment and of the mesentery, consistent with
resolved meconium peritonitis. Weber and Freeman
(1999) suggested that double vascular accident
(absence of the superior mesenteric artery and the
possible occlusion of the arterial blood supply to the
distal pancreaticoduodenal arcade by the annular
pancreas), might be the reason for this baby’s
duodenal atresia.
Rajab et al. (2005) undertook a study to estimate the
prevalence of commonly diagnosed autosomal
recessive diseases in Oman from a hospital-based
register in years 1993 to 2002. The study revealed
that apple peel bowel syndrome was diagnosed in 21
patients, with an observed incidence of 1 in 20,000
births.
Palestine
Farag and Teebi (1989) reported two cases of apple
peel jejunal atresia in two Palestinian sibs living in
Kuwait. Case 1 represented an infant male born with
a birth weight of 2800g following an uneventful term
pregnancy, he was the first child born to
phenotypically normal and distantly related
Palestinian parents. The subject appeared normal at
birth, but nine hours later he demonstrated symptoms
of intestinal obstruction. Laparotomy was employed
and demonstrated upper jejunal atresia measuring
7cm from the duodenojejunal flexure, a mesenteric
gap, an absent superior mesenteric artery, the small
bowel coiled around a branch of the ileocolic artery,
and the presence of mesenteric cyst. The subject
underwent an operation after which he passed away
60 days later. Case 2 represented a male sib born
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after 36 weeks gestation with a birth weight of 2250g.
Upon ultrasonographic examination in utero, it was
believed that the subject suffered from bowel atresia
and, therefore, laparotomy was performed few hours
after birth. The test showed jejunal atresia measuring
10cm from the duodenojejunal flexure and a
corresponding V shaped mesenteric artery with small
bowel loops coiled around a branch from the ileocolic
artery with a classical apple peel pattern. The subject
underwent an operation after which he passed away
30 days later. The sibs’ parents chose to have another
child regardless of the high recurrence risk which was
calculated as 1 in 4. Later, Farag et al. (1993)
reported an Arab family with 4 siblings experiencing
clinical, morphological and roentographic symptoms
of jejunal atresia with apple peel variant in Kuwait.
The first two affected siblings were reported
previously by Farag and Teebi (1989). Regardless of
the high recurrence risk, the mother gave birth to 2
more affected children. Case 3 represented a female
weighing 2160g and she was believed to suffer from
similar congenital small bowel obstruction which was
revealed through a plain abdominal X-ray.
Laparatomy was employed and demonstrated jejuna
atresia with “apple peel” variant. The subject
underwent resection anastomosis and passed away 40
days post operation. Case 4 represented a male
weighing 2680g and he was born after the birth of a
phenotypically normal girl and one early natural
abortion. Abdominal X-ray was performed and
revealed the same diagnosis. The subject underwent
an operation and a laparotomy which revealed upper
jejunal atresia; gangrene of the rest of the small gut
with 5x2.5x1 cm mass confirmed to be intrauterine
volvulus through histopathological examinations.
The subject underwent resection anastomosis after
which he passed away 67 days later. Upon studying
two Arab families affected with Apple Peel
Syndrome (APS), Farag et al. (1993) confirmed that
the disease follows an autosomal recessive mode of
inheritance.
Saudi Arabia
Al-Awadi et al. (1981) reported two siblings who
possibly had familial jejunal atresia. The parents were
first cousins and had a third healthy offspring. The
first child had jejunal atresia with mesenteric agenesis
and 'apple-peel' configuration (type IIIB). The
second child had jejunal atresia with a V-shaped
mesenteric defect (type IIIA). The two sibs died after
surgical intervention.
United Arab Emirates
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In 1981, Andrews and Stem reported a 48-hour-old
Arab female neonate with jejunal atresia. The
newborn neonate presented with small bowel
obstruction, upper abdominal distention, and bile
stained vomitus. A jejunal web was removed during
surgery and jejunoplasty preformed. Since discharge
from the hospital, the baby gained weight and had no
further problems.
diseases in Oman derived from a hospital-based
registry. Community Genet. 2005; 8(1):27-30.
PMID: 15767751
Weber DM, Freeman NV. Duodenojejunal atresia
with apple peel configuration of the ileum and
absent superior mesenteric artery: observations on
pathogenesis. J Pediatr Surg. 1999; 34(9):1427-9.
PMID: 10507447

References Related CTGA Records

Al-Awadi SA, Farag TI, Naguib K, Cuschieri A, Issa Down Syndrome
M. Familial jejunal atresia with 'apple-peel' variant. Duodenal Atresia
J R Soc Med. 1981; 74(7):499-501. PMID: Intestinal Atresia, Multiple
7265073
Andrews EC, Stem JM. Jejunal atresia: A case report External Links
and review of literature. Emirates Med J 1981; http://my.webmd.com/hw/raising_a_family/nord886.a
2:103-5. sp
Farag TI, al-Awadi SA, el-Badramany MH, Usha R,
el-Ghanem M. Second family with "apple peel" Contributors
syndrome affecting four siblings: autosomal Pratibha Nair: 10.5.2011
recessive inheritance confirmed. Am J Med Genet. Lina Walid: 8.6.2010
1993; 47(1):119-21. PMID: 8368241 Pratibha Nair: 11.2.2008
Farag TI, Teebi AS. Apple peel syndrome in sibs. J Eiman Ibrahim: 11.9.2007
Med Genet. 1989; 26(1):67-8. PMID: 2918533 Eiman Ibrahim: 7.5.2007
Mishalany HG, Najjar FB. Familial jejunal atresia: Ghazi O. Tadmouri: 5.7.2005
three cases in one family. J Pediatr. 1968; Ghazi O. Tadmouri: 26.2.2005
73(5):753-5. PMID: 5681166 Sarah Al-Haj Ali: 1.2.2005
Rajab A, Bappal B, Al-Shaikh H, Al-Khusaibi S,
Mohammed AJ. Common autosomal recessive

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