Noonan Syndrome

 

We cover Noonan syndrome pictures, symptoms, causes and treatment in detail in this article.

What is Noonan syndrome ?

Noonan syndrome is a genetic disorder, which affects the normal growth of different parts of body. Unusual facial formation, heart defects, short stature, lesser intelligence level and other problems of physical development are some of the Noonan syndrome effects.

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Genetic mutation, which causes the Noonan syndrome, is acquired by the fetus from a parent of dominant inheritance. It can happen even without a family history of the condition.

No specific method of treatment is prescribed for Noonan syndrome, except controlling the symptoms and problems of Noonan syndrome. For treating the short stature, growth hormones are prescribed.

Symptoms of Noonan syndrome

Some of the symptoms of Noonan syndrome are as follows:

  • Facial features:The face is the index of a man’s clinical features that helps in diagnosing Noonan syndrome. The features change along with the progression of age:
    • Early infancy: A baby of less than one month old may have curious facial structures such as low-set ears, a short neck, down-slanting and wide-set eyes, a low hairline on back part of the head and an upper lip with wide peaks and a deep groove.
    • Infancy: Infant may be with downward slanting prominent eyes along with thick lids and a nose with a wide base and a depressed top
    • Childhood: Lacking facial expression.
    • Adolescence: An adolescent may typically have a wide forehead with a pointed chin, sharper facial characteristics, eyes with reduced prominence and a transparent wrinkled skin.
    • Adulthood: A prominent crease that runs from the nose to the corners of the mouth and transparent and wrinkled skin.
    • Heart disease:Normally 80% of the subjects affected by Noonan syndrome have congenital heart ailments, along with key symptoms of Noonan syndrome. Following are some of the congenital heart ailment types identified by a pediatric cardiologist in infant with Noonan syndrome.
      • Valve disorders: A common heart problem with the individuals affected by Noonan syndrome is narrowing of pulmonary valve, with or without additional associated defects.
      • Thickening of heart muscle (hypertrophic cardiomyopathy): 20% of patients affected by Noonan syndrome suffer from the abnormal growth or thickening of heart muscle.
      • Other structural defects: Some cardiac structural defects include the presence of a hole in the wall that separates the two lower chambers of heart (ventricular septal defect) or a narrowing of the arteries that bring blood to the lungs for oxygen (pulmonary artery stenosis).
      • Growth issues:
        • Babies affected by Noonan syndrome, inspite of their normal birth weight, may have feeding problems up to 18 months causing poor gain of weight. The growth improves during the adolescent span including the bone growth which can continue to the twenties as well. Normally, 1/3rd of the people affected by Noonan syndrome are found with normal growth, while 2/3rd remain with short stature.
        • Musculoskeletal issues:They include the following:
          • Unusually shaped chest or pectus excavatum.  A chest with sunken sternum.
          • Raised sternum (pectus carinatum)
          • Wide-set nipples
          • Short neck
          • Extra folds of skin such as a webbed neck
          • Learning disabilities:
            • In most cases of Noonan syndrome, it has not affected the intelligence except for a few who may need some special education in school.
            • Eye problems:
              • Abnormalities in the shape and size of eyes and eyelids are the common symptoms of Noonan syndrome in a person. Normally the iris looks pale blue or green.
              • Defect in eye muscles, refractive impairments, nearsightedness, astigmatism, farsightedness, eye nerves defect and rapid movement of eye balls are some of the eye problems in people affected by Noonan syndrome.
              • Bleeding:
                • Most people with Noonan syndrome have bleeding problems. It remains unknown until some incident, such as surgery happen.
                • Lymphatic problems:
                  • Noonan syndrome may also cause abnormalities of the lymphatic system such as excess draining of sweat from body, more particularly on top of feet and/or on back of hands
                  • Genital and kidney problems:
                    • Most people with Noonan syndrome, especially males, suffer from kidney and genital problems. Normally the kidney problems tend to be milder and are lesser in numbers. Due to the Noonan syndrome, the puberty for boys and girls may get delayed. Females develop normal fertility but men may suffer from un-descended testicles.
                    • Skin problems:
                      • The color and texture of skin may get affected by Noonan syndrome. Normally people with Noonan syndrome have curly, coarse or sparse hair.

Causes of Noonan syndrome

The condition of Noonan syndrome occurs due to mutation in a particular gene. The mutation is inherited from the defective gene of a parent. The scientists have discovered seven types of genes. It can also develop from a new mutation in the child, who has no genetic predisposition for this disease.

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The chance of getting Noonan syndrome is 50% if any one of the parent have this syndrome.

Noonan syndrome treatment

Treatment for Noonan syndrome and its complications depend on the type and severity of the condition and the associated symptoms.

Treatments for Noonan syndrome may include:

  • Heart treatment
  • Therapy and treatment for learning difficulties
  • Treating low growth rate
  • Treatment of bleeding and bruising.
  • Vision treatments
  • Treatment of lymphatic problems
  •  Treatment of genital and urinary tract problems

Noonan Syndrome pictures

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