What Congenital Malformations Mean
These are structural or functional abnormalities, including metabolic disorders, that are present at birth. They are also known as birth defects. They can affect almost any part of the body and can range from mild to severe.

Causes
The causes can be complex and are not always known, but may include:

• Genetic factors: Changes in genes or chromosomes (e.g., Down syndrome).

• Environmental factors: Exposure during pregnancy to certain medications, infections (like rubella or Zika virus), alcohol, or radiation.

• Multifactorial inheritance: A combination of genetic and environmental factors.

• Unknown causes: In many cases, the specific cause is not identified.

Neural Tube Defects (NTDs)
These are birth defects of the brain, spine, or spinal cord. They happen in the first month of pregnancy, often before a woman knows she is pregnant. Folic acid intake before and during early pregnancy can significantly reduce the risk.

• Spina Bifida: The fetal spinal column doesn’t close completely during the first month of pregnancy. There are several types:

  • Spina Bifida Occulta: Mildest form, often no symptoms. A small gap in the spine but no opening on the back.

  • Meningocele: A sac of fluid protrudes through an opening in the back, but the spinal cord is not in this sac. Causes minor disabilities.

  • Myelomeningocele: Most severe form. The spinal canal is open along several vertebrae in the lower or middle back. Both the membranes and the spinal cord (or nerves) protrude at birth, forming a sac on the back. Causes nerve damage, leading to varying degrees of paralysis of the lower limbs, bowel and bladder control problems, and sometimes hydrocephalus (fluid buildup in the brain).
    Management: Surgical closure of the back defect soon after birth. Ongoing management for associated problems (e.g., mobility aids, bladder/bowel management, shunt for hydrocephalus).

• Anencephaly: A severe NTD where a major portion of the brain, skull, and scalp is absent. Infants are usually born blind, deaf, unconscious, and unable to feel pain. Most infants do not survive more than a few hours or days.

• Encephalocele: A sac-like protrusion or projection of the brain and the membranes that cover it through an opening in the skull. Surgery is usually performed to place the protruding tissues back into the skull and close the opening.

Congenital Heart Defects (CHDs)
These are problems with the structure of the heart that are present at birth. They are the most common type of birth defect. They can affect how blood flows through the heart and out to the rest of the body.

• Symptoms can vary widely: Some cause no signs, while others can cause cyanosis (bluish skin), rapid breathing, poor feeding, poor weight gain, or fatigue.

• Examples:

  • Ventricular Septal Defect (VSD): A hole in the wall (septum) between the heart’s lower chambers (ventricles). Small VSDs may close on their own; larger ones may require surgical repair.

  • Atrial Septal Defect (ASD): A hole in the wall between the heart’s upper chambers (atria). May require closure with a device during cardiac catheterization or surgery.

  • Patent Ductus Arteriosus (PDA): The ductus arteriosus (a blood vessel connecting the aorta and pulmonary artery in fetal circulation) fails to close after birth. Can be treated with medication or closed via catheterization or surgery.

  • Tetralogy of Fallot (TOF): A complex defect consisting of four abnormalities. Causes cyanosis (“blue baby”). Requires surgical repair.

  • Coarctation of the Aorta: A narrowing of the aorta, the large artery that carries oxygenated blood from the heart to the body. Causes high blood pressure in the upper body and low blood pressure in the lower body. Requires surgical repair or balloon angioplasty.

• Management: Varies depending on the type and severity. Options include medication, cardiac catheterization procedures, and open-heart surgery. Some mild defects may not require treatment.

Developmental Dysplasia of the Hip (DDH)
This is a condition where the “ball and socket” joint of the hip does not form properly. The hip socket (acetabulum) may be shallow, meaning the head of the femur (the “ball”) doesn’t fit snugly.

• Can range from mild instability to complete dislocation of the hip.

• Signs: Uneven skin folds on the thigh, one leg appearing shorter than the other, limited range of motion on one side, or a limp when learning to walk. Specific screening maneuvers (Ortolani and Barlow tests) are performed on newborns.

• Diagnosis: Physical examination and ultrasound (in infants younger than 4-6 months) or X-ray (in older infants).

• Management: Goal is to position the femoral head properly in the socket to allow normal development.

  • For newborns/young infants: Often a Pavlik harness (a soft brace) is used for several weeks or months.

  • For older infants or if harness fails: Closed reduction (manipulating the hip into place under anesthesia) followed by a spica cast.

  • Sometimes open surgical reduction is necessary.
    Early detection and treatment are crucial for good outcomes.

Clubfoot (Talipes Equinovarus)
This is a congenital deformity where one or both feet are twisted out of their normal shape or position. The foot is typically turned inward and downward. The calf muscles and tendons in the affected leg are usually shorter.

• The cause is usually unknown, but it can be associated with other conditions.

• Management: The Ponseti method is the most common and effective treatment. It involves gentle manipulation and stretching of the foot, followed by applying a series of plaster casts, changed weekly, to gradually correct the deformity. A minor surgical procedure (Achilles tenotomy) is often needed near the end of the casting period. After casting, special shoes or braces are worn for several years to prevent recurrence.

Down Syndrome (Trisomy 21)
This is a genetic condition caused by the presence of an extra full or partial copy of chromosome 21.

• Characteristics: Distinctive facial features (e.g., flattened facial profile, upward slanting eyes, small ears), intellectual disability (ranging from mild to moderate), hypotonia (low muscle tone), and often other health issues.

• Associated health problems: Congenital heart defects are common. Increased risk of hearing and vision problems, thyroid issues, gastrointestinal abnormalities (like Hirschsprung’s disease or duodenal atresia), and leukemia.

• Diagnosis: Can be suspected prenatally through screening tests and confirmed by diagnostic tests (like amniocentesis or chorionic villus sampling). Confirmed after birth by a chromosome analysis (karyotype).

• Management: There is no cure, but early intervention services (speech, occupational, and physical therapy), educational support, and management of associated health conditions can significantly improve quality of life and help individuals reach their full potential.

Genitourinary Malformations
These are defects of the urinary system (kidneys, ureters, bladder, urethra) or genital organs.

• Hypospadias: A condition in males where the opening of the urethra (the tube that carries urine from the bladder out of the body) is not located at the tip of the penis but on the underside.

  • Severity varies depending on the location of the opening.

  • Management is usually surgical repair, typically performed between 6 and 18 months of age, to reposition the urethral opening to the tip of the penis and correct any associated curvature (chordee).

• Vesicoureteral Reflux (VUR): A condition where urine flows backward (refluxes) from the bladder up into the ureters and sometimes to the kidneys.

  • Increases the risk of urinary tract infections (UTIs) and kidney damage if UTIs are frequent or severe.

  • Diagnosis is often made after a UTI, using a voiding cystourethrogram (VCUG).

  • Management depends on the grade (severity) of reflux and whether UTIs occur. Options include:

    • Observation (many mild cases resolve spontaneously).

    • Continuous low-dose antibiotics to prevent UTIs.

    • Surgical correction (ureteral reimplantation or endoscopic injection of a bulking agent) for severe reflux or recurrent UTIs despite antibiotics.

• Posterior Urethral Valves (PUV): Obstructing flaps of tissue in the male urethra, present at birth, which block urine flow from the bladder. Can cause severe kidney and bladder damage. Requires urgent surgical ablation (removal) of the valves.

Orofacial Clefts (Cleft Lip and/or Cleft Palate)
(Note: Also covered under surgical conditions, but important as a common congenital malformation)
These are openings or splits in the upper lip, the roof of the mouth (palate), or both. They occur when facial structures developing in an unborn baby don’t close completely.

• Challenges can include feeding difficulties, ear infections and hearing loss, speech and language delay, and dental problems.

• Management is multidisciplinary, involving surgical repair (lip repair around 3-6 months, palate repair around 9-18 months), speech therapy, orthodontic treatment, and audiology support.