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Noonan Syndrome with Multiple Lentigines - MedlinePlus Genetics

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Last Updated: 07 October 2022

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Noonan syndrome with multiple lentigines

Noonan syndrome with multiple lentigines is very similar to a disorder called Noonan syndrome, and it can be difficult to tell the two diseases apart in early childhood. Not all people with Noonan syndrome with multiple lentigines have the same signs of this disorder. Multiple lentigines with multiple lentigines in Noonan syndrome tend to appear in mid-childhood, mainly on the face, neck, and upper body. People with this disease may have lighter brown skin spots called caf1-au-lait spots in comparison to lentigines. About 80% of the people with Noonan syndrome with multiple lentigines have heart defects, and the heart muscle has a thickened layer that makes the heart muscle work harder to pump blood. A narrowing of the artery from the heart to the lungs is seen in up to 20% of people with Noonan syndrome or multiple lentigines who have heart disease. People with Noonan syndrome and multiple lentigines can have a distinctive facial appearance. People with multiple lentigines at birth are generally of average weight and height, but in some instances, growth slows over time. Despite the fact that the majority of people with Noonan syndrome with multiple lentigines is shorter than average, only half of those with multiple lentigines have significantly shorter stature. Females with multiple lentigines with Noonan syndrome may have unevenly developed ovaries and delayed puberty. Multiple lentigines is one of a group of related disorders collectively known as RASopathies.

Source link: https://medlineplus.gov/genetics/condition/noonan-syndrome-with-multiple-lentigines


Noonan syndrome

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 can have a short neck. People with Noonan syndrome have short stature, with 50% to 70% of those with Noonan syndrome. Individuals with Noonan syndrome have either a sunken chest or a protruding chest. The majority of people with Noonan syndrome have some form of chronic congenital heart disease. A narrowing of the valve that regulates blood flow from the heart to the lungs is the most common heart disease in these people. Noonan syndrome has been associated with a variety of bleeding disorders. Women with Noonan syndrome or a bleeding disorder have abnormal bleeding during menstruation or childbirth. Noonan syndrome adolescent males with Noonan syndrome have a delayed puberty. Females with Noonan syndrome may have delayed puberty, but most have normal puberty and fertility. Noonan syndrome may cause a variety of other signs and symptoms. Most children with Noonan syndrome have normal intelligence, but a few have special educational requirements, and others have intellectual disability. Infants with Noonan syndrome can be born with puffy hands and feet as a result of a fluid buildup that can go away on its own. Some people with Noonan syndrome suffer cancer, particularly those that involve the blood-forming cells. Children with Noonan syndrome, according to the study, are eightfold more likely of experiencing leukemia or other cancers than those without.

Source link: https://medlineplus.gov/genetics/condition/noonan-syndrome

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions