Congenital Health Dictionary

See ADRENOGENITAL SYNDROME and GENETIC DISORDERS.... congenital adrenal hyperplasia

Heart disease arising from abnormal development. Some cases are hereditary, others due to drugs taken during pregnancy. Many owe their origin to illnesses of the mother such as German measles. Structural abnormalities of the heart take different forms but whatever the case, when under abnormal pressure and stress, all may derive some small benefit from the sustaining properties of Hawthorn berry and other phytomedicines.

Alternatives. To sustain.

Teas. Lime flowers, Motherwort, Buckwheat, Hawthorn.

Tablets/capsules. Hawthorn, Mistletoe, Motherwort.

Formula. Hawthorn 2; Lily of the Valley 1; Selenicereus grandiflorus 1. Powders: 500mg (two 00 capsules or one-third teaspoon). Liquid extracts: 1 teaspoon. Tinctures: 2 teaspoons. In water morning and evening. ... heart disease – congenital

An uncommon genetic disorder in which an enzyme defect blocks the production of corticosteroid hormones from the adrenal glands. Excessive amounts of androgens (male sex hormones) are produced, which can result in abnormal genital development in an affected fetus. Other effects include dehydration, weight loss, low blood pressure, and hypoglycaemia. Hyperplasia (enlargement) of the adrenal glands occurs and there is excessive skin pigmentation in skin creases and around the nipples.

In severe cases, the disorder is apparent soon after birth. In milder cases, symptoms appear later, sometimes producing premature puberty in boys and delayed menstruation, hirsutism, and potential infertility in girls.

Congenital adrenal hyperplasia is confirmed by measuring corticosteroid hormones in blood and urine. Treatment is by hormone replacement. If this is started early, normal sexual development and fertility usually follow.... adrenal hyperplasia, congenital

The separation of a body part (usually a limb, finger, or toe) from the rest of the body, as a result of the part’s blood supply being blocked by a band of amnion (fetal membrane) in the uterus.

The affected part may be completely separated or show the marks of the “amniotic band” after birth.

(See also limb defects.)... amputation, congenital

See developmental hip dysplasia.... hip, congenital dislocation of

Infection acquired in the uterus or during birth. Many microorganisms can pass from the mother, by way of the placenta, into the circulation of the growing fetus. Particularly serious infections acquired in the uterus are rubella, syphilis, toxoplasmosis, and cytomegalovirus; all these infections may cause intrauterine growth retardation. Rubella that occurs in early pregnancy may cause deafness, congenital heart disease, and eye disorders. Some infections in later pregnancy, particularly with a herpes virus, may also damage the fetus severely. A woman infected with HIV risks passing on the virus to her baby during pregnancy, but the risk can be reduced by use of antiretroviral drugs during the pregnancy.

Infections acquired during birth are almost always the result of microorganisms in the mother’s vaginal secretions or uterine fluid. Premature rupture of the membranes is associated with increased risk of infection, particularly streptococcal. Conditions that can be acquired during delivery include herpes, chlamydial infections, and gonorrhoea.

Treatment of the baby depends on the type of infection. Some birth defects caused by infection (such as certain types of heart defect) can be treated; others (such as congenital deafness) are usually not treatable.... infection, congenital

(CDH) herniation of the fetal abdominal organs into the fetal chest, which occurs in one in 2000–5000 live births. This leads to pulmonary *hypoplasia, which is the main cause of the associated high neonatal mortality. The risk of pulmonary hypoplasia is substantially greater where there is herniation of the liver into the thoracic cavity. CDH is commonly associated with additional structural abnormalities (cardiac, neural tube defects, and exomphalos), and the risk of chromosomal abnormality (*aneuploidy) is 10–20%. Demonstration of a fluid-filled bowel at the level of the heart on ultrasound is diagnostic.... congenital diaphragmatic hernia

see transposition of the great vessels.... congenitally corrected transposition

a hereditary condition (inherited as an autosomal *recessive) causing severe visual loss in infants. The *fundus usually appears to be normal when examined with an *ophthalmoscope, but marked abnormalities are found on the ERG (see electroretinography), usually with extinguished wave pattern. [T. Leber (1840–1917), German ophthalmologist]... leber’s congenital amaurosis

(CDH) an abnormality present at birth in which the head of the femur is displaced or easily displaceable from the acetabulum (socket) of the ilium, which is poorly developed; it frequently affects both hip joints. CDH occurs in about 1.5 per 1000 live births, being more common in first-born girls, in breech deliveries, and if there is a family history of the condition. The leg is shortened and has a reduced range of movement, and the skin creases may be asymmetrical. All babies are routinely screened for CDH at birth and at developmental check-ups by gentle manipulation of the hip causing it to be reduced and dislocated with a clunk (see Barlow manoeuvre; Ortolani manoeuvre). The diagnosis is confirmed by X-ray or ultrasound scan. Treatment is with a special harness holding the hip in the correct position. If this is unsuccessful, the hip is reduced under anaesthetic and held with a plaster of Paris cast or the defect is corrected by surgery. Successful treatment of an infant can give a normal hip; if the dislocation is not detected, the hip does not develop normally and osteoarthritis develops at a young age.... congenital dislocation of the hip