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What does DiGeorge syndrome look like?

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What does DiGeorge syndrome look like?

Certain facial features, such as an underdeveloped chin, low-set ears, wide-set eyes or a narrow groove in the upper lip. A gap in the roof of the mouth (cleft palate) or other problems with the palate. Delayed growth. Difficulty feeding, failure to gain weight or gastrointestinal problems.

What is the main cause of DiGeorge syndrome?

DiGeorge syndrome is caused by a problem called 22q11 deletion. This is where a small piece of genetic material is missing from a person’s DNA. In about 9 in 10 cases (90%), the bit of DNA was missing from the egg or sperm that led to the pregnancy. This can happen by chance when sperm and eggs are made.

What is the life expectancy of someone with DiGeorge syndrome?

Without treatment, life expectancy for some children with complete DiGeorge syndrome is two or three years. However, most children with DiGeorge syndrome that is not “complete” survive to adulthood.

What is another name for DiGeorge?

These names include:

  • DiGeorge syndrome.
  • Velocardiofacial syndrome (VCFS)
  • Shprintzen syndrome.
  • Conotruncal anomaly face syndrome (CTAF)
  • Sedlackova syndrome.
  • CATCH 22 syndrome.

Is DiGeorge syndrome the same as Down syndrome?

Congenital heart disease with defects of the outflow tracts (the pulmonary artery and aorta) from the heart. Next to Down syndrome, DiGeorge syndrome is the most common genetic cause of congenital heart disease.

What is the weirdest disease?

Water allergy.

  • Foreign accent syndrome.
  • Laughing Death.
  • Fibrodysplasia ossificans progressiva (FOP)
  • Alice in Wonderland syndrome.
  • Porphyria.
  • Pica.
  • Moebius syndrome. Moebius is extremely rare, genetic and characterized by complete facial paralysis.

    • Can DiGeorge cause schizophrenia?

    It appears that there are risk factors that increase the susceptibility to psychosis in patients with DiGeorge syndrome. The 22q11. 2 deletion is the most common genetic risk factor for the development of schizophrenia.

    What do kids with DiGeorge syndrome look like?

    In some cases people with DiGeorge syndrome have no symptoms at all. Sometimes they have distinctive facial features including hooded eyelids, cheek flatness, a prominent bulbous nasal tip, an underdeveloped chin, or ears that appear prominent with attached lobes. These features will vary from person to person.

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