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Results 21 - 30 of 1,291 for Congenital defects
  1. What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?: MedlinePlus Genetics 
    ... the fetus will be born with certain genetic abnormalities. This testing analyzes small fragments of DNA that ... an opportunity for early detection of certain genetic abnormalities without harming the fetus. NIPT is most often ...
    https://medlineplus.gov/genetics/understanding/testing/nipt - Genetics
  2. SLC4A1-associated distal renal tubular acidosis 
    ... kidney (renal) disorder that sometimes includes blood cell abnormalities. The kidneys normally filter fluid and waste products ... kidney stones (nephrolithiasis). In rare cases, these kidney abnormalities lead to life-threatening kidney failure. Affected individuals ...
    https://medlineplus.gov/...-associated-distal-renal-tubular-acidosis - Genetics
  3. Carpenter syndrome 
    ... the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental ... eye shape. Some affected individuals also have dental abnormalities including small primary (baby) teeth. Vision problems also ...
    https://medlineplus.gov/genetics/condition/carpenter-syndrome - Genetics
  4. X-linked chondrodysplasia punctata 2 
    ... a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females.Although the ... almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays as spots (stippling) ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-2 - Genetics
  5. Roberts syndrome 
    ... a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after ... syndrome.Children with Roberts syndrome are born with abnormalities of all four limbs. They have shortened arm ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  6. Microphthalmia 
    Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  7. Mainzer-Saldino syndrome 
    ... characterized by kidney disease, eye problems, and skeletal abnormalities.People with Mainzer-Saldino syndrome have chronic kidney ... that occurs in Mainzer-Saldino syndrome.The skeletal abnormality most characteristic of Mainzer-Saldino syndrome consists of ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  8. Terminal osseous dysplasia 
    ... osseous dysplasia is a disorder primarily involving skeletal abnormalities and certain skin changes. It is a member ... the roof of the mouth (palate), and skeletal abnormalities involving the fingers or toes (digits), although not ...
    https://medlineplus.gov/.../condition/terminal-osseous-dysplasia - Genetics
  9. Coats plus syndrome 
    ... by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other ... the retina to separate (retinal detachment). These eye abnormalities often result in vision loss.People with Coats ...
    https://medlineplus.gov/genetics/condition/coats-plus-syndrome - Genetics
  10. CHOPS syndrome 
    CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, ...
    https://medlineplus.gov/genetics/condition/chops-syndrome - Genetics
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