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diseaseconditions.peperonity.net

◆ BIRTH DEFECTS



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ACHONDROPLASIA:
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(Greek a-‘lack of’; chondros, -‘cartilage’; plasia, ‘molding’)

The genetic disorder produces abnormal bone development, with most of the affected patients assuming an apparent dwarf-like appearance. The extremities are short, but the trunk is of normal size. The head is abnormally large in most cases. Achondroplasic dwarfs are quite different from normally proportioned pituitary dwarfs, who are deficient in growth hormone. Cases that are severe are stillborn or die in infancy. Surprisingly, patients who survive through the first one-year of life grow to become healthy adults with normal intelligence. The reproductive capacity is also unaltered in these individuals. Combinations of various genetic disorders have been implied as a causative factor.


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DOWN'S SYNDROME
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It is the most common autosomal aneuploidy. Aneuploidy is the alteration in the number of 46 chromosomes in a cell. There can either be a loss or gain of chromosomes.

INCIDENCE:
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1 in 600 to 1 in 800

CAUSES:
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An extra copy of the 21st chromosome in all the body cells. Advanced maternal age (> 35 years) is found to be associated with an increased risk of Down syndrome.

=>CLINICAL FEATURES:
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Low nasal root, small over folded ears, corners of the mouth turned down, short hands and feet, deep single flexion crease of palm, mental retardation, low level of intelligence, duodenal obstruction, skin disorders, blood disorders, absence or closure of anus, esophagus or duodenum, eye disorders, increased susceptibility to upper respiratory tract infections, congenital heart defects. Males with the disorder are sterile. Females with the syndrome can conceive, but the risk of Down syndrome in child is 50 %.

=>Life expectancy:
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Death occurs in the first year of life due to congenital heart defects.

20 % - die at age 5 75- 80 % - die at age 10 25 % - die at age 20


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HEMOPHILIA
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=>INCIDENCE:
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1 in 5000 to 10,000 males.

=>CAUSES:
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It is an inherited genetic disorder characterized by defective blood clotting. In a normal person, the blood clots following injury to prevent further loss of blood. Several proteins and blood cells are involved in the clot formation. In a person with hemophilia, the clotting mechanism is fails and there is excessive bleeding.

=>FEATURES:
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There are two different types of hemophilia, depending on the protein involved. The disease can be classified as mild, moderate or severe depending on the amount of protein present.

MILD:
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5 to 40 % of normal factor VIII, mild bleeding present.

MODERATE:
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1 to 5 % of normal factor VIII, heavy bleeding following injury

SEVERE:
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1% of normal factor VIII, spontaneous bleeding in skin, joints and muscles.

Haemarthrosis involving the ankle, knees, hips and elbowsIntra cranial bleeding


=>TREATMENT:
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Supplementation with the defective protein (Factor VIII)

Genetic Testing for hemophilia:

Chorionic Villi sampling or amniocentesis can be done to determine the sex of the child. The parents can then take an informed decision regarding continuation of pregnancy depending on the result. Other forms of genetic tests can be done to confirm the diagnosis if required.

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