#Charge syndrome life span skin

Most commonly cause too much fluid to build up in the back of the hands or top of the feet.Can focus on a particular area of the body or be widespread.Some children are born with swelling of the hands, feet and tissue of the neck. May show up before or after birth or start in the teenage years or as an adult.Noonan syndrome can cause problems with the lymphatic system, which drains excess fluid from the body and helps fight infection. That's because the blood of some people with Noonan syndrome may not clot properly and may have low levels of proteins that are needed for clots to form. Noonan syndrome can cause bleeding problems and easy bruising. Noonan syndrome can cause hearing problems due to nerve issues or an inner ear bone structure that is not typical. Rapid movement of the eyeballs, also known as nystagmus.This can make vision blurry or distorted, or make it hard to see things close up or far away. Refractive problems, which means the cornea or the lens is egg-shaped with two curves that do not match.Problems with the eye muscles, such as cross-eye, also known as strabismus.Hearing and vision problems that may make it harder to learn.Ĭommon signs of Noonan syndrome are eyes and eyelids that are unusual, including:.A wide range of mental, emotional and behavioral issues that are usually mild.A higher risk of learning disabilities and mild intellectual disability.Noonan syndrome does not affect the intelligence of most people who have the condition. Short neck, often with extra folds of skin, called a webbed neck.It also is possible to have pectus carinatum, where the breastbone and ribs grow outward, making the chest stick out more than usual. A condition called pectus excavatum, where the breastbone and ribs sink too far into the chest.Short height as an adult, which is common, but some people with Noonan syndrome may not be short.Delay in the growth spurt that's typically seen during the teenage years because bones do not reach maximum strength or density until later.Growth hormone levels that may be too low.Eating difficulties that may lead to poor nutrition and weight gain.Typical birth weight but slower growth over time.Many children with Noonan syndrome do not grow at a typical rate. Noonan syndrome can affect typical growth. Most people with Noonan syndrome have a heart rhythm that is not regular. This can occur with or without other problems in heart structure. Or there can be narrowing of the major blood vessel known as the aorta, which carries blood from the heart to the body. This is called pulmonary artery stenosis. Another defect sometimes seen is narrowing of the artery that carries blood to the lungs for oxygen. This is called a ventricular septal defect. Problems with heart structure can involve a hole in the wall that separates the two lower chambers of the heart, known as ventricles. Unusual growth or thickening of the heart muscle - also known as hypertrophic cardiomyopathy - affects some people with Noonan syndrome. It may occur with or without other heart problems. Pulmonary valve stenosis is the most common heart problem seen with Noonan syndrome. This valve is the flap of tissue that separates the lower right chamber of the heart - called the right ventricle - from the artery that supplies blood to the lungs - called the pulmonary artery. Pulmonary valve stenosis is a narrowing of the pulmonary valve. Some forms of congenital heart disease related to Noonan syndrome include: Also, some heart problems can occur later in life. Many people with Noonan syndrome are born with a heart problem that causes some of the key symptoms of the condition.

#Charge syndrome life span skin

Skin may appear thin and transparent with age.Head may be large with a big forehead and a low hairline on the back of the head.The face may appear droopy and not show expression. Facial features may appear coarse but look sharper with age.The inside roof of the mouth may be highly arched. The crease that runs from the edge of the nose to the corner of the mouth becomes deeply grooved with age. Mouth has a deep groove between the nose and the mouth and wide peaks in the upper lip.Nose is depressed at the top, with a wide base and round tip.Ears are set low and look like they're tipped backward.Eyes are wide-set, slant down and have droopy lids.Noonan syndrome may include these features: These distinct features become less clear in adults. Facial features may be easier to see in infants and young children but change with age. How the face looks is one key feature that leads to a diagnosis of Noonan syndrome. These symptoms may be related to the specific gene containing the change. Symptoms of Noonan syndrome vary greatly and range from mild to severe.