Learning objectives

At the end of the lecture, students should be able to,

•    Know the congenital anomalies of gut

•    Enlist the special features associated with common anomalies related to gut
     including :
        1. Cleft Lip or Cleft Palate
       2. Hernias
       3. Esophageal Atresia
       4.Malrotation of gut
       5. Anorectal malformations
                    Congenital Malformations
•    Causes

      – Genetic/chromosomal
      – Enviornmental
•    Incidence

      – 2-3% of newborn (4-6% by age 5)
      – In 40-60% of all birth defects cause is unknown
            •    Genetic/chromosomal
                   –   10%-15%
            •    Environmental
                   –   10%
            •    Multifactorial (genetic & environmental)
                   –   20%-25%

The most common anomalies are:
    1. Cleft Lip or Cleft Palate
    2. Hernias
    3. Esophageal Atresia
    4. Malrotation of gut
    5.Anorectal malformations
Cleft Lip :

•   is a congenital fissure in the upper lip.

Cleft Palate:

•   is a midline fissure of the palate that results from failure of the
    two sides to fuse.

                       Cleft lip and palate

•   About 30% of such cases are part of syndromes with other

•   It is one of the most common congenital abnormalities with a
    worldwide incidence as high as 1 in 700. The incidence of cleft palate
    alone is about 1 in 2,000.

•   The appearance may inhibit maternal bonding. There may be
    difficulties in feeding and with speech.

•   Generally, the results of surgical treatment are extremely good.
                             Esophageal Atresia

 •   The esophagus instead of being an open tube
     from the throat to the stomach is closed at some
 •   A fistula is common between the trachea and
 •   Oesophageal atresia occurs between 1 in 3,500
     and 1 in 5,000 births.
 •   6 times as common in twins as in singletons.
 •   More common in the trisomy disorders of Down's
     syndrome, Patau's syndrome and Edwards'

Clinical manifestation

•    Excessive salivation.

•    Coughing, choking, cyanosis,

•    Apnea

•   Abdominal distention.

The first sign of esophageal atresia may be polyhydramnios

If atresia is present, an inserted nasogastric tube will typically stop at 10 to 12 cm.
               Tracheao Esophageal Fistula
• Tracheoesophageal fistula and
    esophageal atresia result from failure of
    the embryonic esophagus and trachea to
    develop and separate correctly.
•    Respiratory system development begins
    at about day 26 of gestation.
•   Abnormal development of the septum
    during this time can lead to
    tracheoesophageal fistula.
        Atresia with Tracheo-esophageal fistula

•    The commonest
    congenital anomaly of the

•    The upper segment ends
    as a blind pouch

•    The lower segment is
    connected to the trachea

      Atresia with Tracheo-esophageal fistula
Clinical Picture

Immediately after birth:

Marked regurgitation and


Oral Catheter fails to enter the stomach


Lipidol swallow


Immediate surgical repair
              Pyloric stenosis
•   In pyloric stenosis, the muscle in the pylorus
    thickens and enlargens to the point of narrowing
    and possibly closing off the opening altogether.

•   This is a fairly common birth defect but one that
    needs to be treated immediately with surgery to
    allow the baby to feed and digest its food.

      Is a protrusion of a portion of an organ or organs through an
                         abnormal opening through

       •   The diaphragm,

       •   The abdominal wall, or

       •   The inguinal canal.
 Diaphragmatic Hernias
Protrusion of abdominal organs through opening in diaphragm.


• Mild to severe respiratory distress
• Tachypnea , cyanosis,dyspnea
• Absent breath sound.
• Shock

   Protrusion of stomach through esophageal

• Dysphagia, vomiting,
• Bleeding (hematemesis)
                        Umbilical Hernia

    Weakness in abdominal wall around umbilicus, incomplete closure of
    abdominal wall allowing intestinal contents to protrude through

•    Noted by inspection and
    palpation of the abdomen.

•    High incidence in premature.
                     Abdominal Wall Defects
•   Occurs in 1 in 6,000 births

•   Gastrointestinal structures protrude through an
    unclosed umbilical ring, covered in
     –   Herniated organs may not have fully
         retracted in the 10th wk (likely if amnion
         covered only)
     –   Or, if there is peritoneum in the sac, the
         organs retracted but herniated again
         secondarily when the ventral abdominal wall failed to close

                     Abdominal Wall Defects
•   One half to one third have other anomalies or chromosomal defects
     –   Pentology of Cantrell (failure of migration and fusion of the
         lateral and cephalic folds): omphalocele, diaphragmatic hernia,
         sternal cleft, ectopia cordis (evagination of the heart), &
         intracardiac anomaly
     –   Beckwith-Wiedeman Syndrome: omphalocele, macroglossia,
         macrosomia, hemihypertrophy, hypoglycemia related to
         pancreatic hyperplasia
     –   Associated with Trisomy 13, 18, &21
    Abdominal Wall Defects
     2-4.9 per 10,000 live births
     Male preponderance
     Most common abdominal wall defect
     –      Cause is unknown, but may be
            related to fetal distress
     –      Infants are more likely to be
     –      Term babies are more likely to be

                         Duodenal atresia
•   Duodenal atresia occurs in 1 out of every
    2,500 live births.
•    Half of the infants with this condition are born
    prematurely and approximately two-thirds
    have associated abnormalities of the heart,
    genitourinary, or intestinal tract.
•   Nearly 40% have Down syndrome.
•   Infants with duodenal atresia usually vomit
    within hours after birth, and may develop a
    distended abdomen.
•   Abdominal X-rays show a large dilated
    stomach and duodenum without gas in the
    remaining intestinal tract.

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