What are the different types of rare genetic diseases?

There are many different types of rare genetic diseases that can affect the development of the child. Mitochondrial disorders and Chat Cri du syndrome are several examples of rare genetic disorders. Van der Woude syndrome and Angelman syndrome are also types of rare diseases. Because of their rarity, information about these diseases is limited. This type of genetic disorder is described by mutations of non -grinding DNA mitochondria. Mitochondria are very small subunits of plant and animal cells. They are small and round or rod structures in the cytoplasm or cells of cells that help in cellular breathing. Typical mitochondria contains five to 10 pieces of circular DNA, and when some of them are malformed or mutated, it is called mitochondrial disorder.

Cri du chat syndrome is one of the most interesting rare genetic diseases. This disease is also known as 5p-syndrome and cat crying and describes the missing genetic material on the small arm of the chromosome five. Remains unknown what he couldo cause to delete genetic material. Symptoms of this disorder differ in severity depending on the amount of missing genetic material and may include a high scream, delayed development and widely distributed eyes. The treatment consists of a team of support for parents, therapists and healthcare professionals to help the child achieve his maximum potential.

Another type of rare genetic diseases is called van der Woude syndrome, which affects about one in 200,000 people in the world. This disorder is rare but indiscriminate and affects people of all races. The van der Woude syndrome tends to be hereditary, but may occur in individuals without a family medical history. This disorder describes the deformities of the mouth and face, including the cleft palate, the missing lower teeth and the deformities of the tongue. The azage of deformity varies with every case and most individuals can be treated with plastic surgery.

Angelman syndrome is a type inIn the genetic diseases that pass through many different names, including a happy puppet syndrome and puppets, and is a type of mental retardation. This type of genetic disorder affects only about one of each of each 12,000 to 20,000 people and can represent a wide range of symptoms. The symptoms of this disorder include delayed development, speech problems and small head size. Sometimes it is called a happy puppet disorder, because the problems of movement often lead to jerky, puppet movements and behavior of individuals with this disorder are exciting, with frequent laughter and smiling.