Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They don't last as long as normal, round red blood cells, which leads to anemia. The sickle cells also get stuck in blood vessels, blocking blood flow. This can cause pain and organ damage.
Hemophilia
Hemophilia is a rare inherited disorder in which the blood does not clot normally. About 18,000 people in the U.S. have hemophilia. Each year, about 400 babies are born with the disorder. Hemophilia usually occurs in males (with very rare exceptions).
Albinism
Albinism occurs when 1 of several genetic defects makes the body unable to produce or distribute melanin, a natural substance (gives color to your hair, skin, iris of the eye).
Phenylketonuria (PKU)
Babies with PKU are missing an enzyme called phenylalanine hydroxylase, which is needed to break down an essential amino acid called phenylalanine. The substance is found in foods that contain protein. Without the enzyme, levels of phenylalanine and two closely-related substances build up in the body. These substances are harmful to the central nervous system and cause brain damage.
Cystic Fibrosis
Cystic fibrosis (CF) is caused by a defective gene which tells the body to produce abnormally thick and sticky fluid, called mucus. This mucus builds up in the breathing passages of the lungs and the pancreas, the organ that helps to break down and absorb food.
Tay Sachs Disease
Tay-Sachs disease occurs when the body lacks hexosaminidase A, a protein that helps break down a chemical found in nerve tissue called gangliosides. Most people with Tay-Sachs have the infantile form. In this form, the nerve damage usually begins while the baby is still in the womb. Symptoms usually appear when the child is 3 to 6 months old. The disease tends to get worse very quickly, and the child usually dies by age 4 or 5.
Adrenoleukodystrophy
The condition results in the buildup of very-long-chain fatty acids in the nervous system, adrenal gland, and testes, which disrupts normal activity.
Achondroplasia
Achondroplasia is a disorder of bone growth that causes the most common type of growth hormone deficiency (dwarfism).
Colorblindness
Color blindness occurs when there is a problem with the color-sensing materials (pigments) in certain nerve cells of the eye. If you are missing just one pigment, you might have trouble telling the difference between red and green. This is the most common type of color blindness.
Canavan disease
Canavan disease is an inherited disorder of aspartic acid metabolism (breakdown and use). It is characterized by degeneration (falling apart) of the white matter of the brain.
Coffin-Lowry Syndrome
Coffin-Lowry syndrome is a condition that affects many parts of the body. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected women.Males with Coffin-Lowry syndrome typically have severe to profound intellectual disability and delayed development.
Fragile X Syndrome
Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females.
Huntington's Disease
Huntington's disease is a disorder passed down through families in which nerve cells in the brain waste away, or degenerate.
Marfan Syndrome
Marfan syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin. (Gigantism)
Trisomy 13
Trisomy 13 occurs when extra DNA from chromosome 13 appears in some or all of the body's cells. May result in Cleft lip or palate, close-set eyes, decreased muscle tone.
Rett Syndrome
Rett syndrome is a disorder of the nervous system that leads to developmental reversals, especially in the areas of expressive language and hand use.
Klinefelter Syndrome
Klinefelter syndrome is one of a group of sex chromosome problems. It results in males who have at least one extra X chromosome. Usually, this occurs due to one extra X (written as XXY).
Turner Syndrome
In Turner syndrome, cells are missing all or part of an X chromosome. The condition only occurs in females. Most commonly, the female patient has only one X chromosome. Others may have two X chromosomes, but one of them is incomplete. Sometimes, a female has some cells with two X chromosomes, but other cells have only one.
Progeria
Progeria is a disease that produces rapid aging, beginning in childhood. Children tend to look “elderly” at very young ages. It causes premature aging.
Xeroderma pigmentosum
Xeroderma pigmentosa is a rare condition passed down through families in which the skin and the tissue covering the eye is extremely sensitive to the ultraviolet part of sunlight. Skin cancer usually occurs before age 5.
Gaucher Disease
Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase. The lack of the glucocerebrosidase enzyme causes harmful substances to build up in the liver, spleen, bones, and bone marrow. The substances prevent cells and organs from working properly.
Prader-Willi Syndrome
Prader-Willi syndrome is a congenital (present from birth) disease that involves obesity, decreased muscle tone, decreased mental capacity, and sex glands that produce little or no hormones. Affected children have an intense craving for food and will do almost anything to get it. This results in uncontrollable weight gain and morbid obesity. Morbid obesity may lead to lung failure with low blood oxygen levels, right-sided heart failure, and death.
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is an inherited disorder that involves rapidly-worsening muscle weakness. By age 10, the person may need braces for walking. By age 12, most patients are confined to a wheelchair.
Trisomy 21
In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called Trisomy 21. The extra chromosome causes problems with the way the body and brain develop. However, children with Down syndrome have a widely recognized characteristic appearance. The head may be smaller than normal and abnormally shaped. For example, the head may be round with a flat area on the back.
Cri Du Chat Syndrome
Cri du chat syndrome is a group of symptoms that result from missing a piece of chromosome number 5. The syndrome’s name is based on the infant’s cry, which is high-pitched and sounds like a cat.
Treacher Collins Syndrome
Treacher-Collins syndrome is a hereditary condition that causes facial defects
