Cystic Fibrosis is a genetic disease that affects the lungs, digestive system, sweat glands, and male fertility. This disease affects the body’s ability to move salt and water within the cells. This defect causes the lungs and pancreas to secrete thick mucus, blocking passageways and enabling proper function.

Diabetes is a disease in which there is an elevated level of sugar glucose. Glucose is the body’s main source of energy for cell functions in the blood. A disorder in the production of the insulin hormone causes increased levels of glucose and other molecules. This sets off a variety of health problems due to high glucose levels on the blood vessels.

Down Syndrome is a genetic disorder caused by an extra copy of chromosome 21, also called trisomy 21. Individuals with this disorder suffer from impaired cognitive ability, physical growth, and facial appearance. Symptoms may also include: almond shaped eyes, shorter limbs, and poor muscle tone.

Deletion 22qll syndrome is a common genetic disorder caused by a deletion of chromosome material from chromosome 22(22q). The deleted material produces a variety of affects. This is characterized by congenital heart defects, palate abnormalities, immune problems, and learning disabilities.

Ectodermal dysplasia is a group of syndromes deriving from abnormalities of the ectodermal structures. The ectoderm is responsible for the development of hair, teeth, nails, and skin. Individuals with this disorders have defects in the hair, teeth, nails, and skin.

Fragile X Syndrome is the most common form of inherited mental retardation. This syndrome is caused by a mutation in the FMR-1 gene on the x chromosome. Individuals with this disorder have developmental delay, variable levels of retardation, behavioral and emotional difficulties, and possible physical traits.

Hemochromatosis is a genetic disorder that causes the body to increase the absorption of intestinal iron. This iron overload can eventually cause cirrhosis of the liver.

Hirchsprung’s disease is an abnormality in which certain nerve fibers are absent in segments of the bowel. This disease is caused by certain nerve cells in the large intestine that didn’t develop before birth. Without the nerves, the affected colon lacks the ability to move bowel contents. This disease can affect varying lengths of the bowel segment.

Osteogenesis imperfecta (OI) is a group of genetic diseases of collagen in which the bones are formed improperly. This improper bone formation makes the bones weak and prone to breaking. Multiple bone fractures are common. There eight forms of osteogenesis imperfecta, type I through type VIII. Type I is the mildest form of osteogenesis imperfecta and type II is the most severe. Type I OI is characterized by bone fractures during childhood and adolescence. Type II OI symptoms include an abnormally small rib cage and underdeveloped lungs.Symptoms for all types of osteogenesis imperfecta (OI) include: frequent bone fractures,blue sclerae, short stature, hearing loss, and respiratory problems.