DiGeorge syndrome | Medtick
Medtick

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).

  • Medical News Today

    Medical news and health news headlines posted throughout the day, every day.

  • Medscape (Professional level)

    Latest medical news and expert commentary in your specialty as well as disease information.

  • Healthline

    Medical Information and health advice you can trust

  • EveryDay Health

    Wellness inspired. Wellness enabled.

  • Pharmaceutical Journal (Professional level)

    The Pharmaceutical Journal covers analysis, features, opinion, learning and careers articles, providing insight and knowledge about drugs, pharmacy practice, medicines use and healthcare policy in the context of the pharmacy profession and pharmaceutical science.

  • NHS

    Find information and advice on health conditions, symptoms, healthy living, medicines and how to get help (British National Health Service).

  • WebMD

    Better Information. Better Health.

  • Cleveland Clinic

    Pushing the Standards of care.

  • Mayo Clinic

    No.1 Hospital in the Nation (America)

  • Drugs.com

    Know more. Be sure.

  • National Organisation of Rare Diseases

    NORD is dedicated to supporting education, elevating care, advancing research, and driving policy for rare diseases.

  • Verywell Health

    Know more. Fell better.

  • Nathnac

    Travel health guidance for health professionals advising travellers and for travellers going overseas from the UK.

  • DR Axe

    Health and fitness news. Recipes, Natural Remedies

  • Better health - NHS

    Healthy changes start with little changes. Whether you want to lose weight, drink less alcohol, get active or quit smoking, you have access to lots of free tools and support through Better Health. You can also find simple ways to lift your mood with Every Mind Matters.

    There has never been a better time to kickstart your health. Let’s do this!

Medtick

© Medtick - 2026. All Rights Reserved.