List of Congenital Diseases

Congenital diseases refer to diseases that are present at birth. Sometimes, the congenital condition affects a certain body part or is an inherited condition that affects growth and development. Congenital diseases are typically present at birth, but with the advent of three-dimensional sonograms, congenital diseases may be detected prior to birth.

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Coarctation of the Aorta

Coarctation of the aorta refers to a medical problem in which the aorta (major blood vessel of the heart) is narrowed, states MedlinePlus 1. Symptoms of coarctation of the aorta include:

  • fainting
  • dizziness
  • chest pain
  • nose bleeds
  • leg cramps
  • shortness of breath
  • a pounding heartbeat
  • poor growth
  • high blood pressure 1

Other symptoms of coarctation of the aorta include a headache and the inability to exercise without getting tired 1.

Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia is a condition affecting the adrenal glands, structures that sit above the kidneys to produce steroid hormones. Two types of congenital adrenal hyperplasia exist: classic and nonclassic. Classic congenital hyperplasia occurs in newborns and young children while the nonclassic form affects older children and those in early adulthood.

Symptoms of classic congenital hyperplasia includes an enlarged penis in males, ambigous genitalia in females, vomiting, dehydration and vomiting. It may also lead to early puberty, menstrual irregularities and infertility.

Symptoms of nonclassic congenital hyperplasia include absent or irregular menstruation, fatigue, low blood pressure, obesity and high cholesterol.

Treatment for congenital adrenal hyperplasia involves taking such medications as dexamethasone or cortisol to replace the steroids that are not made. Reconstructive surgery may be used in females with ambiguous genitalia. Sometimes, women can be given dexamethosone prior to the baby being born.

Congenital Cataract

Congenital cataracts refer to clouding of the eye lenses at birth 2. Symptoms of congenital cataracts include a white spot in the dark circular part of the eye (pupil), rapid eye movements (nystagmus) and the inability of the newborn to recognize what is around him, according to MedlinePlus 12.

Mild cataracts require no treatment, but severe cataracts can be treated with surgery and replaced with an artificial lens.