Rasopathy disorders

Cardiofaciocutaneous (CFC) syndrome is a condition characterized by:

• Heart differences or problems with heart function.
• Specific facial features.
• Developmental delay and intellectual disability (mild to severe).
• Skin, hair and nail problems such as different types of birthmarks or skin that is rough looking or thickened in some areas. Hair may be thin, curly or brittle. Occasionally there will be very few eyelashes or the eyelashes and eyebrows will be missing. Fingernails or toenails may be flat and broad.

Other features of CFC syndrome include feeding problems, growth delays, and low muscle tone. There may be an increased chance for certain types of cancer in some individuals with CFC syndrome.

CFC syndrome typically is due to a new change in an individual's gene and usually is not inherited from a parent.

Costello syndrome is a condition that includes:

• Feeding and growth difficulties.
• Developmental delay and intellectual disability.
• Heart differences and problems with heart function.
• Specific facial features.
• Skin differences that can include growths on the face and anus called papillomata, and loose, soft skin with deep creases in the hands and feet. Individuals with Costello syndrome also may have curly or thin, fine hair.

Other features of Costello syndrome include shorter height, a sociable, outgoing personality, and wrists and fingers that may develop in a very specific way. Individuals with Costello syndrome have approximately a 15% lifetime chance to develop cancerous tumors.

Costello syndrome is typically due to a new change in an individual's gene and usually is not inherited from a parent.

Noonan syndrome (NS) is a condition that can have:

• Heart differences and problems with heart function. Individuals may be born with a heart difference such as pulmonic stenosis, which is a narrowing of the pulmonary valve of the heart, or have hypertrophic cardiomyopathy, a problem with the function of the heart, which makes it larger than normal.
• Specific physical signs, including a broad neck, ears that are set low on the head, and wide-spaced eyes with droopy eyelids.
• Shorter height.

Learning problems are sometimes associated with NS. Hearing loss and vision problems can also be present. In addition, males with NS can have undescended testes and decreased fertility.

NS can be inherited from a parent or result from a new genetic change, so the individual may be the first person in the family to have the condition. If a person has NS, there is a 50% chance for each of their children to also have NS. This is called autosomal dominant inheritance.

The features of this condition can include:

• Lentigines, which are flat, black-brown spots, mostly on the face, neck and chest that generally appear around age 4 or 5 and increase in number over time. Some individuals with NSML do not have lentigines. Some individuals with NSML also have brown birthmarks called cafe-au-lait spots.
• Heart differences, most often pulmonic stenosis (narrowing of the heart's pulmonary valve).
• Problems with how the heart works (hypertrophic cardiomyopathy).
• Specific facial features.
• Delay in growth that leads to shorter height. However, birth size may be normal or even large.
• Deafness or hearing loss.

Some individuals with NSML have developmental delays and learning difficulties. NSML can be inherited from a parent or result from a new change in an individual's gene, so the individual may be the first person in the family to have the condition. If a person has NSML, there is a 50% chance for each of their children to also have NSML. This is called autosomal dominant inheritance.