What is the life expectancy of someone with CLOVES syndrome?

What is the life expectancy of someone with CLOVES syndrome?

“The Syndrome was first described in 2007 as CLOVE syndrome by a team at National Institute of Health but Boston Children’s Hospital expanded the acronym to include the ‘S’ for scoliosis and/or spinal anomalies, giving us the name ‘CLOVES Syndrome,’ ” she explained via email. Life expectancy is not known.

What causes CLOVES syndrome?

CLOVES syndrome is a nonhereditary disorder caused by a somatic (body cell) mutation in a gene known as PIK3CA. Mutations in this growth regulatory gene result in two sets of cells within the body (mosaic status): those with the mutation and those without the mutation.

Can CLOVES syndrome be cured?

There is no cure for CLOVES, but a team of health care specialists can help families manage the conditions and symptoms it causes.

What is Parkes Weber Syndrome?

Parkes Weber syndrome is characterized by vascular abnormalities known as capillary malformations and arteriovenous fistulas (AVFs), which are present from birth. The capillary malformations increase blood flow near the surface of the skin.

How many people have CLOVES syndrome in the world?

There may be life-threatening problems due to the overgrowth pushing on vital organs or because the increased blood vessel growth can lead to heart failure. The syndrome affects about 150 people worldwide.

What is Cobb syndrome?

Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans.

What is wyburn Mason syndrome?

Wyburn-Mason syndrome is a rare nonhereditary disorder that is present at birth (congenital). Affected infants have arteriovenous malformations (AVMs), which are developmental abnormalities affecting the blood vessels, specifically the arteries, veins and capillaries.

What causes Parkes Weber Syndrome?

When Parkes Weber syndrome is caused by mutations in the RASA1 gene, it is sometimes inherited from an affected parent. In these cases, the condition has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.

What causes Cobb?

Cobb syndrome is thought to have no sex predilection, but there have been less than 100 cases reported in the literature. It is believed to be due to a sporadic mutation, since parents of affected children usually have no evidence of the disease.