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Renella E.Denson 11/1/

Biology/ 4th Block Mrs. Florence-Moore

Turners Syndrome

The cause is a chromosomal abnormality that only affects females. Shortness of stature, webbing of the skin and the neck, absence or very retarded development of secondary sexual characteristics, absence of menstruation, coarctation of the aorta, abnormalities of the eyes and bones, and a degree of mental retardation are all symptoms of Turners Syndrome. There is not a cure for it.

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The cause is from an incomplete development of the digits at the embryo stage, or by constriction of the digits by tissue within the uterus later in fetal development. Skin between the affected fingers or toes are joined and bones of adjacent digits are fused are symptoms of syndactyly. Treatment is usually by one or more operations during early childhood to separate the affected digits.

Tay-Sachs Disease

The cause is a deficiency of hexosaminidase. Blindness, dementia, deafness, seizures, and paralysis are all symptoms of Tay-Sachs Disease. There is no cure. Amaurotic Familial Idiocy is a common name.


The cause is when the enzymes that convert phenylalanine into tyrosine are defective. Abnormalities, neurologic disturbances, epilepsy, and a musty smell are all symptoms of Phenylketonuria. The only treatment is to restrict the intake of phenylalanine, which is a natural constitute of most protein-containing foods.


The cause is the synthesis of either the alpha or the beta chains is reduced, causing an imbalance between alpha and beta chains in much of the hemoglobin produced. Hemolytic anemia, fatigue, shortness of breath, and jaundice & spleen enlargement are all symptoms of Thalassemia. Cooleys Anemia is a common name.

Sickle Cell Anemia

The cause is red cells are abnormal, resulting in a chronic, very severe form of anemia (reduced oxygen-carrying capacity of the blood). Pains in bones, blood in the urine, fatigue, headaches, and pallor & jaundice are all symptoms of Sickle Cell Anemia. There is no cure.

Marfans Syndrome

The cause is a genetic defect that is thought to affect the development of some of the bodys connective tissues. Unusually tall, long, thin arms and legs, narrow face, and curvature of the spine are all symptoms of Marfans Syndrome. There is no cure.

Alzheimers Disease

The cause is because of abnormal concentrations of aluminum in the brain tissue. Speech disturbances, severe short- term memory loss, and disorientation are all symptoms of Alzheimers Disease. There is no cure.


The cause is by an inborn deficiency of a substance necessary for blood clotting. Large bruises of the skin, bleeding in the mouth, nose, gastrointestinal tract, and hemorrhages in the joints are all symptoms of Hemophilia. One treatment consists of blood transfusions to restore lost blood. Another involves giving the patient the missing clotting factor.


The cause is a lack of cartilage cells. Short limbs, enlarged head, a bulging forehead, saddle nose, protruding full-sized jaw, and a narrow chest are all symptoms of Achondroplasia. There is no cure. Chondrodystrophia Fetalis is a common name.

Cystic Fibrosis

It is caused by a recessive gene, which codes for an abnormal protein. Malfunctioning of the mucussecreting glands of the body, thick mucous secretions build up in the air passages and lungs. Wheezing and coughing are all symptoms of Cystic Fibrosis. Treatment of CF includes the intake of pancreatic enzyme supplements and a diet high in calories, proteins, and fat. Vigorous physical therapy, the frequent use of antibiotics, and other measures are used to treat the lung disease. Mucoviscidosis and Cystic Fibrosis of the Pancreas are common names.

Huntingtons Disease

It is caused by a dominant gene. Clumsy, irritable, depressed, memory loss, uncontrollable jerking of arms and legs, muscle coordination, and ability to speak are all symptoms of Huntingtons Disease. There is no cure.

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