Congenital Anomalies/Deformities

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Overview

Congenital anomalies are disorders that are present since birth. Some disorders manifest as early as at the time of birth, and some disorders present in childhood or adolescence. Some of the following are common congenital anomalies:

  • Cleft lip/Cleft palate
  • Heart defects, such as, Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot
  • Downs syndrome
  • Sickle cell anemia
  • Club foot
  • Spina bifida

Causes

There are a number of potential causes that can lead to the development of congenital anomalies, and are listed below:

  • Genetic factors
  • Environmental factors – maternal exposure of chemicals and toxins such as alcohol, or tobacco smoke
  • Maternal nutritional deficiencies
  • Maternal infections

Symptoms

The symptoms of some of the common congenital anomalies are listed below:

  • Cleft lip/Cleft palate – visible deformity in the upper lip, and/or palate, Poor speech development
  • Heart defects – breathing difficulties, rapid heart rate, greyish/blue skin, poor feeding
  • Downs syndrome – slanting eyes, small ears, small mouth, short neck, delayed mental development
  • Sickle cell disease – anemia, debilitating bouts of pain that can damage organs
  • Club foot – incorrect position of foot
  • Spina bifida – leg paralysis, bladder and bowel problems (incontinence)

Diagnosis

The diagnosis of congenital anomalies can be made when the fetus is still inside the mother’s uterus. Some specific tests and techniques have made this possible, and are listed below:

  • Amniocentesis
  • Chorionic villous sampling
  • Ultrasound
  • Fetal markers in maternal blood

Treatment

The treatment essentially depends on the specific disorder, but most congenital anomalies are treated surgically.

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