DiGeorge syndrome - Medtick
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DiGeorge syndrome

What is it?

A genetic condition that is normally present from birth onwards, it can have a range of symptoms to where the parent does not realise the baby/child has the condition to the point the baby/child can be very ill.

  • The condition can cause one to have a weak immune system and one is more prone to infection due  the thymus gland may be small or missing (the thymus gland is beneath the breastbone, is where T cells — a type of white blood cell — mature. Mature T cells are needed to help fight infections).
  • It’s often diagnosed soon after birth with a blood test to check for the genetic fault.

Cause

  • Person’s genes defect called 22q11 deletion is  where small piece of genetic material called chromosome 22 is missing from a person’s DNA, it is of unknown reason.
  • The 22q11 deletion is passed on to a child by a parent who has DiGeorge syndrome, although they may not realise they have it if it’s mild.

Symptoms

  • Difficult to concentrate/difficulty in concentrating/memory problems and/or learning difficulties?
  • Behaviour problems?
  • Wide-set eyes (ocular hypertelorism)?
  • Blue coloured skin under the eyes?
  • Small eyes?
  • Extra folds of skin on either side of the nose that may cover the eyes’ inner corners (epicanthal folds) and/or Downward slanted eyes (down-slanted palpebral fissures)?
  • Blurred vision?
  • Low-set ears and/or ears are of different size to each other and/or thick outer rim ears?
  • Hearing problems – including temporary hearing loss?
  • Regular ear infections and/or ear pain?
  • Delayed speech?
  • “Nasal-sounding” voice?
  • Short of breath and/or breathing difficulties (whether after exercise or not) and/or wheezing?
  • Feeding problems i.e. Difficulty feeding?
  • Underdeveloped chin?
  • Narrow groove in the upper lip?
  • Cleft lip and/or high arched palate (roof of the mouth)?
  • Joint pain and stiffness?
  • Abnormal side-to-side (scoliosis) or front-to-back (kyphosis) curvature of the spine?
  • Aching, painful muscles, muscle cramps/spasms/stiffness or floppy (baby/young child is kicking out legs and arms and crying)?
  • Creeping, cramping and crawling sensation in feet, calves, leg and/or thighs?
  • Wide spaced toes?
  • Slowed growth and/or shorter than average?
  • Struggle to put weight on?

Complications /Information to beware of/General tips:

Do not wait, phone for ambulance if have or develop:

  • Bluish pale skin especially if around hands, fingers and feet and toes (due to poor blood flow from a diseased heart)

This condition has been associated with:

This condition may show similar symptoms to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

Please copy and paste any key words from the title: DiGeorge syndrome in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

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