spideroreo.blogg.se - Bloom syndrome

#BLOOM SYNDROME SKIN#
#BLOOM SYNDROME PLUS#

However, he/she becomes a carrier of the disease. If a person has one normal gene and one abnormal one, he/she will not manifest any symptoms of the disease. Recessive genetic disorders happen when a person receives 2 abnormal genes for the same trait from each parent. Genetic disorders happen when there is a mutation in some genes received from the parents. The numbered bands indicated the location of the thousands of genes that are present on each chromosome. They are further subdivided into many bands that are numbered. Males have one X and one Y chromosome, while females have two X chromosomes.Įvery chromosome has a short arm designated “p” and a long arm designated “q”.

#BLOOM SYNDROME PLUS#

22 pairs of chromosomes plus a pair sex chromosome (X or Y) are inherited from each parent. Chromosomes, which are found in the nuclei of cells, carry genetic information. They also have abnormalities of the eyes, ears, hands, and/or feet.īloom syndrome is an inherited disorder that results due to an autosomal recessive genetic trait.

Body abnormalities: Affected people usually have a lot of physical abnormalities like cysts at the base of the spine (pilonidal), extra fingers.

Immune system abnormalities: People with this condition often have problems with their immune systems and this increases their incidences of diseases like middle ear infections and pneumonia.

Cancer: At least half of the people with this syndrome eventually develop cancer, especially leukemia.

#BLOOM SYNDROME SKIN#

The skin especially turns red whenever it is exposed to sunlight. Photosensitivity: The skin of people with this condition is highly sensitive to ultraviolet rays from the sun.Café au lait spots (discoloration of skin): This condition can also cause areas of abnormal brown or gray skin coloration in some parts of the body.

The rashes mainly appear in a butterfly pattern on the cheeks. People affected with Bloom syndrome usually have telangiectasia on their faces. Telangiectasia: This is a condition in which widened tiny blood vessels form threadlike red lines on the skin.Women, meanwhile, have reduced fertility and get menopause at an earlier age than usual. Infertility: Men with Bloom syndrome are infertile as they are not able to produce sperm.Some of the other symptoms of this disorder are They also usually have a high-pitched voice. People with this disorder also have certain distinctive facial features including prominent nose and ears long, narrow face and a small jaw. Approximately one-third of the affected people are of Ashkenazi Jewish heritage (people whose ancestors were from Poland or Ukraine) Symptoms People born with this disorder are usually shorter compared to the rest of the population, with them rarely exceeding 5 feet in height.īloom syndrome is a rare disorder that is known to have affected only a few hundred individuals (approximately 275 reported cases) worldwide. Bloom syndrome is a rare genetic disorder that is characterized by short stature and photosensitivity (People with this disorder develop skin rashes when they are exposed to ultraviolet rays from the sun).