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In the majority of people with cardiofaciocutaneous syndrome, heart defects occur. Heart valves that block blood flow from the heart to the lungs, a gap between the two upper chambers of the heart, and a condition of heart disease that expands and weakens heart muscle. Unique facial features also distinguish Cardiofaciocutaneous syndrome. Skin abnormalities are present in virtually every person with cardiofaciocutaneous syndrome. People with cardiofaciocutaneous syndrome also tend to have thin, dry, curly hair, and sparse or absent eyelashes and eyebrows. Cardiofaciocutaneous syndrome is linked to those of two other medical disorders, Costello syndrome and Noonan syndrome. Unlike Costello syndrome, which significantly raises a person's cancer risk, cancer does not appear to be a common feature of cardiofaciocutaneous syndrome.
Costello syndrome is a condition that affects several areas of the body. Heart rhythms are common, including an abnormal heartbeat, structural heart abnormalities, and a form of heart disease that expands and weakens the heart muscle. Infants with Costello syndrome can be larger than average at birth, but most infants are still have trouble feeding and growing more slowly than other children. People with Costello syndrome are at an elevated risk of obtaining such benign and noncancerous tumors as early as childhood. rhabdomyosarcoma, a childhood cancer that arises in muscle tissue, is the most common cancerous tumor associated with Costello syndrome. In addition, several teenagers with Costello syndrome have developed transitional cell carcinoma, a form of bladder cancer that is normally seen in older adults. Costello syndrome's signs and symptoms are similar to those of two other medical disorders, cardiofaciocutaneous syndrome, and Noonan syndrome.
Multiple lentigines syndrome is very similar to Noonan syndrome with multiple lentigines, as the condition name suggests, and it can be difficult to tell the two disorders apart in early childhood. Multiple lentigines with multiple lentigines in Noonan syndrome typically appear in mid-childhood, predominantly on the face, neck, and upper body. By the time they reach puberty, impacted individuals may have thousands of tiny dark brown skin spots. About 80% of those with Noonan syndrome with multiple lentigines with heart defects have hypertrophic cardiomyopathy, which is a thickening of the heart muscle that makes it harder to pump blood. A narrowing of the artery from the heart to the lungs in up to 20% of people with Noonan syndrome with multiple lentigines who have heart disease have heart disease. People with Noonan syndrome with multiple lentigines may have a distinctive facial appearance. This slow growth results in affected people being shorter than average, but less than half of people with Noonan syndrome with multiple lentigines have substantially short stature, according to the affected individuals. Additional signs and symptoms of Noonan syndrome include hearing loss caused by abnormalities in the inner ear, mild intellectual impairment, and extra folds of skin on the back of the neck. Females with Noonan syndrome and multiple lentigines may have irregularly developed ovaries and delayed puberty. Multiple lentigines syndrome in Noonan syndrome is one of a group of related disorders collectively classified as RASopathies.
Both children and adults with Noonan syndrome have a short neck, and both children and adults with excess neck skin and a low hairline at the back of the neck. People with Noonan syndrome have short stature, with 50% to 70% of those with Noonan syndrome. Individuals with Noonan syndrome tend to have either a sunken chest or a protruding chest. Most people with Noonan syndrome have some form of chronic congenital heart disease. A narrowing of the valve that controls blood flow from the heart to the lungs is the most common heart disease in these individuals. Noonan syndrome has been attributed to a variety of bleeding disorders. Occasionally, women with Noonan syndrome who have a bleeding disorder have increased bleeding during menstruation or childbirth. Noonan syndrome adult males have been waiting for delayed puberty for the longest time. Females with Noonan syndrome may have delayed puberty, but most have normal puberty and fertility. Noonan syndrome can cause a variety of other signs and symptoms. Most children with Noonan syndrome have normal intelligence, but a few have special educational needs, and some have intellectual disabilities. Infants with Noonan syndrome may have puffy hands and feet as a result of a fluid buildup, which can go away on its own. Some people with Noonan syndrome have cancer, especially those that involve the blood-forming cells. According to studies, children with Noonan syndrome have an eightfold greater risk of experiencing leukemia or other cancers than age-matched peers.
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