What Is The Rarest Genetic Disorder?
According to the Journal of Molecular Medicine, Ribose-5 phosphate isomerase deficiency, or RPI Deficinecy, is the rarest disease in the world with MRI and DNA analysis providing only one case in history
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Who Does Waardenburg Syndrome Affect?
Incidence. Waardenburg syndrome affects about 1 in 42,000 people. It's the cause of 1 to 3 percent of cases of congenital deafness. People of all races and either sex are equally vulnerable to Waardenburg syndrome
What Type Of Mutation Is Waardenburg Syndrome?
Waardenburg syndrome type 1 is caused by mutations in the PAX3 gene . Researchers believe that mutations in the PAX3 gene destroy the ability of the PAX3 protein to bind to DNA and regulate the activity of other genes
What Chromosome Does Waardenburg Syndrome Affect
Farrer LA, et al. Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS Consortium. Am J Hum Genet. 1992;50:902-13
How Many Babies Are Born With Waardenburg Syndrome?
Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital hearing loss
Is Waardenburg Syndrome Rare
Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital hearing loss. Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare
What Are The 4 Types Of Waardenburg Syndrome?
Waardenburg syndrome type 4 is further divided into types 4A, 4B, and 4C based on their genetic cause. Type 4A is caused by mutations in the EDNRB gene , mutations in EDN3 cause 4B, and mutations in SOX10 cause type 4C
What Is The Cause Of Waardenburg Syndrome?
Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes can cause Waardenburg syndrome. These genes are involved in the formation and development of several types of cells, including pigment-producing cells called melanocytes
How Do You Know If You Have Waardenburg Syndrome?
The most common symptoms of Waardenburg syndrome are pale skin and pale eyes. Another common symptom is a streak of white hair near the forehead. In many cases, someone with this condition might have two different-colored eyes. This is known as heterochromia iridis
What Are The Symptoms Of Waardenburg Syndrome
- Cleft lip (rare) - Constipation. - Deafness (more common in type II disease) - Extremely pale blue eyes or eye colors that don't match (heterochromia) - Pale color skin, hair, and eyes (partial albinism) - Difficulty completely straightening joints. - Possible slight decrease in intellectual function
What Is The Rarest Genetic Disorder?
According to the Journal of Molecular Medicine, Ribose-5 phosphate isomerase deficiency, or RPI Deficinecy, is the rarest disease in the world with MRI and DNA analysis providing only one case in history