Hemihypertrophy

The chromosomal abnormalities include turner's disease, laron dwarfism, noonan syndrome, sinotina wiley syndrome, russell xifushi, mutation / deletion of the short stature homeobox-containing gene, and skeletal dysplasia.

Achondroplasia (ACH) is the most common form of short-limb dwarfism occuring in 1 in 15,000 to 28,000 births and appears to be slightly more prevalent in females, but indiscriminent toward race (1-3). Evidence has been found in Egypt for cases of ACH dating back as far as 4500 B.C. (4). In simplest terms, ACH is a disease where the dwarfing of bones formed in the cartilage occurs (5). There are many features that accompany this disease including rhizomelic (proximal) shortening of the extremities, megalencephaly (enlarged brain), short stature, trident hand, and frontal bossing (prominent forehead) (1, 3, 4, 6-8). Expression of this gene at high levels is primarily found in cells of the nervous system and the cartilage rudiments and

The cause of this condition not known. In some cases it may be caused by genes passed down through families.

The exact cause of this condition is not known. The condition may be passed down through families through an abnormal gene.

According to the CDC website, Hemophilia, is a hereditary bleeding disorder which affects mostly males due to X chromosome singularity. Hemophilia is a medical condition in which the blood clotting becomes a challenge for those affected. Symptoms include spontaneous bleeding from injuries or surgery. Blood contains many proteins called clotting factors that assist in blood coagulation, however; those individuals with hemophilia have low levels of either factor VIII or factor IX. The severity of the condition is determined by the amount of factor in the blood thus the lower the amount of the factor, the higher the chances that spontaneous bleeding will occur leading to more severe health complications.

Wilms tumor is a cancer that starts in one, or rarely, both kidneys. It is most often found in children about three years old, and is uncommon in children older than six. It can show up as a swelling or lump in the belly. This type of cancer accounts for about 5% of childhood cancers (American Cancer Society, 2010).

The main trigger for sporadic aHUS derives from an infection. Other common triggers include pregnancy, cancer, transplants or certain medications. According to Norris and Remuzzi, “Approximately 50% of sporadic cases appear to be idiopathic”. Approximately 10-20% of patients with sporadic aHUS also display a mutation of the CFH gene. (Noris & Remuzzi, 2010)

Prader - Willi Syndrome is caused by the deletion or not getting Chromosome 15 from the dad. This disorder

Porphyria, specifically Congenital Erythropoietic Porphyria, is a rare hereditary blood disorder. The likelihood that this disorder will be present is less than one in a million, yet more common in relatively isolated populations.

cases patients having lordosis with bowed legs, and causing obesity due to inability to exercise

Hemophilia, once called the royal disease is a problem with the clotting of blood. When a cut or bruise occurs it can bleed causing problems with people who suffer from hemophilia. Patients with hemophilia will continually bleed longer than a normal individual. This bleeding can lead to harmful levels of blood loss to internal bleeding. Hemophilia is very rare occurring once every five thousand people. Rare, however it is the most common x linked trait. When an injury occurs, blood cells called platelets plug the wound. Then fibrins seal it up. Hemophilia splits into two groups hemophilia A and hemophilia B. People who have hemophilia A have low levels of blood clotting factor 8. Hemophilia B patients have low levels of blood clotting factor

Wilms tumor is a type of cancer that starts in the kidneys. It is the most common type of kidney cancer in children. It is named after Max Wilms, a German doctor who wrote one of the first medical articles about the disease in 1899.

A large number of mutations for Hemophilia A have been detected and identified. The most common mutation found is the intron twenty-two inversion and intron one inversion of the Factor VIII gene. This mutation occurs in 40-50 percent of people with Hemophilia A. It is caused by the homologous recombination between copies of a DNA sequence. One copy is located on the intron 22 region of factor VIII and the other copies are distal to the factor VIII. Intron one of the factor VIII gene occurs when the factor VIII gene is split which results in the production of two chimeric mRNAs. One of the mRNA has have the exon of the factor VIII and the exons 2-6 on the exon gene of the VBP1 gene, which codes for the subunit of prefolding. The second mRNA has all exons except the last exon of the BRCC3 gene. Other patients that have Hemophilia A acquire the

Wolf-Hirsch horn syndrome impacts many features such as facial lucks like wide eyes, body is smaller then is supposed to be. This syndrome is made when you are born. People that have this disorder usually cant eat some foods because the foods can cause pane, and some times it can be so bad that a person can even die.

This condition often occurs in individuals between the ages of 25 and 44, and is a result of a number of different factors including genetics, environmental factors,