What is CFC disease?

What is Cardiofaciocutaneous Syndrome? Cardiofacialcutaneous (CFC) syndrome is a rare genetic condition that affects 200-300 people worldwide. Common features of CFC syndrome include congenital heart disease, characteristic facial features and skin abnormalities.

What are the symptoms of CFC?

How is CFC diagnosed?

Molecular genetic testing is available for mutations in the four genes known to cause CFC syndrome. Testing can be done by using a multi-gene panel that screens all of the genes currently known to cause a RASopathy since there is a considerable overlap among them or whole exome sequencing can be considered.

How many people have chlorofluorocarbons?

Cardiofaciocutaneous syndrome is a very rare condition whose incidence is unknown. Researchers estimate that 200 to 300 people worldwide have this condition.

What causes Costello Syndrome?

Causes. Mutations in the HRAS gene cause Costello syndrome. This gene provides instructions for making a protein called H-Ras, which is part of a pathway that helps control cell growth and division . Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active).

Learn About CFC Syndrome

What is the life expectancy for Costello syndrome?

Costello syndrome is a lifelong condition. Life expectancy often depends on how severe the heart defect is, and on the other medical complications present.

What is an XY female?

Humans and most mammals have two sex chromosomes, the X and Y. Females have two X chromosomes in their cells, while males have X and Y chromosomes in their cells. Egg cells all contain an X chromosome, while sperm cells contain an X or a Y chromosome.

Who found CFC?

Sherwood Rowland and Mario J. Molina discovered that chlorofluorocarbons (CFCs) could deplete Earth's atmospheric ozone layer, which blocks the sun's damaging ultraviolet rays. When the scientists reported their findings in 1974, CFCs were widely used as refrigerant gases and as propellants in aerosol sprays.

What is the abbreviation of CFC?

abbreviation for chlorofluorocarbon: a gas used in fridges and, in the past, in aerosols (= a metal container in which liquids are kept under pressure and forced out in drops): CFCs cause damage to the ozone layer. Chemicals, chemical compounds & gases.

What does charge Syndrome stand for?

CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities.

Is Legius syndrome hereditary?

Inheritance. This condition is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.

What causes Coffin Lowry Syndrome?

Causes. Coffin-Lowry syndrome is caused by changes (mutations) in the RPS6KA3 gene on the X chromosome. Some individuals with Coffin-Lowry syndrome do not have a detectable mutation in the RPS6KA3 gene. Coffin-Lowry syndrome is inherited in an X-linked dominant pattern.

What are the characteristics of Williams syndrome?

Newborns with Williams syndrome have characteristic “elfin-like” facial features including an unusually small head (microcephaly), full cheeks, an abnormally broad forehead, puffiness around the eyes and lips, a depressed nasal bridge, broad nose, and/or an unusually wide and prominent open mouth.

What is the condition SMS?

Summary. Smith-Magenis syndrome (SMS) is a complex developmental disorder that affects multiple organ systems of the body. The disorder is characterized by a pattern of abnormalities that are present at birth (congenital) as well as behavioral and cognitive problems.

What is an example of a CFC?

CFCs Examples

Some CFC examples include: Trichlorofluoromethane- a methane hydrocarbon with one-carbon compound and replacement of the hydrogens with three chlorine and one fluorine atom. It was used as a refrigerant and is a clear, light-colored liquid. It is known to contaminate groundwater by penetrating the soil.

What are CFCs used for?

Chlorofluorocarbons (CFCs) are nontoxic, nonflammable chemicals containing atoms of carbon, chlorine, and fluorine. They are used in the manufacture of aerosol sprays, blowing agents for foams and packing materials, as solvents, and as refrigerants.

Is CFC harmful to humans?

Workers should be warned about the hazards of exposure to CFC-113–particularly that exposure can cause death by cardiac arrhythmia or asphyxiation. Furthermore, workers should be warned that CFC-113 is especially hazardous when used in confined spaces or in poorly ventilated areas.

What is the other name of CFC?

chlorofluorocarbon (CFC), any of several organic compounds composed of carbon, fluorine, and chlorine. When CFCs also contain hydrogen in place of one or more chlorines, they are called hydrochlorofluorocarbons, or HCFCs. CFCs are also called Freons, a trademark of the E.I.

Are CFC still used today?

Yes, they are. Most refrigerants found in air conditioners, refrigerators, and freezers contain fluorocarbons, and many fluorocarbon compounds contain chlorine. Chlorofluorocarbon (CFC) refrigerants were commonly used in equipment manufactured before 1995.

Can an XY get pregnant?

Here's the bottom line: pregnancy requires a uterus. Males and most XY females cannot become pregnant because they don't have a uterus. The uterus is where the fetus develops, and pregnancy isn't possible without it. In most cases, having a Y chromosome means having no uterus, so pregnancy isn't possible.

How many sexes are there?

Based on the sole criterion of production of reproductive cells, there are two and only two sexes: the female sex, capable of producing large gametes (ovules), and the male sex, which produces small gametes (spermatozoa).

What is the gender of YY?

Each person normally has one pair of sex chromosomes in each cell. The Y chromosome is present in males, who have one X and one Y chromosome, while females have two X chromosomes. Identifying genes on each chromosome is an active area of genetic research.

What is a Costello?

Individuals with Costello syndrome typically have loose skin (cutis laxa) on the neck, palms, fingers, and soles. The skin in these areas may lack elasticity and hang loosely; in addition, the skin may appear wrinkled and thickened. In some cases, certain areas of the skin may become unusually dark (hyperpigmentation).

Is Williams syndrome a form of autism?

Williams Syndrome (WS) is not an autism spectrum disorder (ASD), although there is some overlap between the two conditions. WS and ASD have opposite characteristics in the social domain, but share some common behavioral and cognitive deficiencies.

Is Williams syndrome like Down's syndrome?

Williams syndrome and Down syndrome are both chromosomal disorders affecting people from birth. However, Williams syndrome is caused by a missing chromosome, while Down syndrome is caused by an extra chromosome.