AP+Top+3+Genetic+Disorders

1. [|Hemophilia]

Symptoms:

 * Chronic oozing after injuries
 * tooth extractions or surgery
 * renewed bleeding after initial bleeding has stopped
 * easy or spontaneous bruising
 * chronic bleeding.
 * bleeding include the bowel, the brain and soft tissues.
 * These types of bleeding can lead to throwing up blood or passing blood in the stool, stroke, and sudden severe pain in the joints or limbs.
 * Painful bleeding into the soft tissues of the arms and legs can lead to nerve damage.

Inherited:
When there is an X-linked recessive pattern. An x-linked recessive pattern is when a gene mutation is located on the X chromosome of the two sex chromosomes. In males one altered copy of the gene in each cell of the x-chromosome. In females a mutation must be in both copied of the genes.

2. [|Achondroplasia]

Symptoms:

 * abnormal bone growth that causes clinical symptoms
 * short stature with disproportionately short arms and legs, short fingers, a large head (macrocephaly)
 * facial features with a prominent forehead (frontal bossing)
 * mid-face hypoplasia.
 * infants born with this have weak muscle tone. It hard for them to comprehend how to walk and function
 * Compression of the spinal cord and/or upper airway obstruction increases the risk of death in infancy.
 * having breathing problems where they are short of air or stop breathing for a short period of time
 * Adults with this have permanent sway of the lower back (lordosis) and bowed legs.

Inherited:
This disease is not usually inherited. But it can be inhertied when the autosomal is the dominant manner. The parents can be normal but they baby has this when there is a new gene mutation. If one the parents have achondroplasia then then child will have a 25 percent chance of inheriting it and a 50 percent chance of actually getting this disease.

[|3. Down Syndrome]

Symptoms:

 * learning difficulties
 * mental retardation
 * Characteristic of facial appearance
 * poor muscle tone (hypotonia) in infancy
 * increased risk for having heart defects, digestive problems such as gastroesophageal reflux or celiac disease
 * hearing loss
 * ow activity of the thyroid gland

Inherited:
Its not inherited but is caused when random events during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21. If an atypical repordictuve cell goes into the gentic make up of the child then it will have an extra chromosome 21.