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In the majority of people with cardiofaciocutaneous syndrome, heart defects occur. Malformations of one of the heart valves that restrict 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 are two common problems. Unique facial features also identify Cardiofaciocutaneous syndrome. In virtually every one with cardiofaciocutaneous syndrome, skin abnormalities occur. People with cardiofaciocutaneous syndrome also have thin, dry, curly hair, sparse or no eyelashes and eyebrows, as well as people with cardiogenic syndrome. Cardiofaciocutaneous syndrome's signs and symptoms closely match those of two other medical disorders, Costello syndrome, and Noonan syndrome. Unlike Costello syndrome, which dramatically raises a person's cancer risk, cancer does not appear to be a common feature of cardiofaciocutaneous syndrome.
Heart abnormalities, structural heart abnormalities, and a form of heart disease that expands and weakens the heart muscle are all typical. Infants with Costello syndrome may be larger than average at birth, but most infants are still hungry and grow more slowly than other children. People with Costello syndrome are at an elevated risk of developing such cancerous and noncancerous tumors in early childhood. The most common cancerous tumor associated with Costello syndrome is a childhood tumor called rhabdomyosarcoma, which begins in muscle tissue. In addition, several teenagers with Costello syndrome also developed transitional cell carcinoma, a form of bladder cancer that is normally seen in older adults. Costello syndrome's signs and symptoms are largely similar to those of two other medical disorders, cardiofaciocutaneous syndrome, and Noonan syndrome.
Noonan syndrome with multiple lentigines is closely related to a disorder called Noonan syndrome, and it can be difficult to distinguish the two disorders in early childhood, as the condition name suggests. Those with Noonan syndrome with multiple lentigines do not have any of the typical signs of this disorder. Multiple lentigines in Noonan syndrome with multiple lentigines mainly on the face, neck, and upper body first appeared in mid-childhood. About 80% of those with Noonan syndrome with multiple lentigines have heart defects, the heart muscle's thickening of the heart muscle and forces the heart to pump more blood. A narrowing of the artery from the heart to the lungs in up to 20% of people with Noonan syndrome or multiple lentigines have heart problems. People with Noonan syndrome and multiple lentigines may have a distinct facial appearance. People with multiple lentigines at birth are typically of normal weight and height, but in some cases, growth slows over time. Many people with Noonan syndrome with multiple lentigines have shorter stature than normal, with some affected people being shorter than normal. Females with Noonan syndrome with multiple lentigines may have unevenly produced ovaries and delayed puberty.
Many children 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 are expected to have short necks. People with Noonan syndrome have short stature, with 50% to 80%. Individuals with Noonan syndrome 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 associated with a variety of bleeding disorders. Women with Noonan syndrome who have a bleeding disorder have excessive bleeding during menstruation or childbirth. Adolescent males with Noonan syndrome have delayed puberty. Females with Noonan syndrome may have delayed puberty, but most have normal puberty and fertility. Any other signs and symptoms may be related to Noonan syndrome. 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 be born with puffy hands and feet due to a fluid buildup that can go away on its own. Some people with Noonan syndrome can get cancer, particularly those that involve the blood-forming cells. Children with Noonan syndrome are at an eightfold greater risk of experiencing leukemia or other cancers than those with age-matched peers, according to it.
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