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February 10, 2012

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Noonan Syndrome Index

Featured: Noonan Syndrome Main Article

Noonan syndrome is a genetic disorder that causes birth defects (congenital malformations) such as short stature, caved-in chestbone, webbing of the neck as well as heart and blood vessel defects. Named after Dr. Jacqueline A. Noonan it is inherited as an autosomal dominant disorder. The Noonan gene (NS1) is on a nonsex (autosomal) chromosome (number 12) and is transmitted from a parent with a 50% probability to boy or girl. Treatment for Noonan syndrome is directed toward the problems that may occur in a given affected individual. The heart defects may require surgical treatment. The expected outcome (prognosis) depends on the extent and severity of the features that are present.

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Terms related to Noonan Syndrome:

  • Familial Turner Syndrome
  • Female Pseudo-Turner Syndrome
  • Male Turner Syndrome
  • Noonan-Ehmke Syndrome
  • Pseudo-Ullrich-Turner Syndrome
  • Turner Syndrome in Female with X chromosome
  • Turner's Phenotype, Karyotype Normal
  • Turner-like Syndrome
  • Ullrich-Noonan Syndrome
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  • Related Diseases & Conditions

    5 articles
    • Turner Syndrome
      • Turner syndrome is an inherited chromosomal condition affecting women. Women with Turner syndrome do not have ovarian function, and features of the syndrome include webbed neck, lymphedema of the hands and feet, heart defects, kidney problems, and skeletal abnormalities. The X chromosome is related to Turner syndrome. Treatment focuses on the symptoms of the syndrome.
      More
    • Genetic Disease
      • Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
      More
    • Birth Defects
      • Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the causes of birth defects include genetic or chromosome problems. Exposure of the mother to rubella or German measles during pregnancy, or using drugs or alcohol during pregnancy. The treatment for birth defects depends upon the condition of the effected child.
      More
    • Caregiving
      • Most often, caregivers take care of other adults who are ill or disabled. Less often, caregivers are grandparents raising their grandchildren. The majority of caregivers are middle-aged women. Caregiving can be very stressful, so it's important to recognize when it's putting to much strain on you and to take steps to prevent/relieve stress.
      More
    • Genetic Counseling
      • Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
      More

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