Digeorge Syndrome Pictures

What is a DiGeorge syndrome?

It is an immunodeficiency disorder caused by the absence of a small segment of chromosome 22. It is also known as 22q11.2 deletion syndrome.



DiGeorge syndrome causes have something to do with the abnormal migration of cells and tissues during the development of fetus inside the mother's womb or could also occur during fertilization stage (either paternal or maternal side). (1, 2, and 3)

a boy diagnosed with DiGeorge syndrome pictures
picture 1: A boy diagnosed with DiGeorge syndrome.
image source: wikimedia.org

The clinical manifestations of a patient with DGS pictures
picture 2: The clinical manifestations of a patient with DGS.
image source: emaze.com

A patient with DGS with severe facial anomalies pictures
picture 3: A patient with DGS with severe facial anomalies.
image source: omicsgroup.org

A patient to undergo heart surgery secondary to complications of DGS.
picture 4: A patient to undergo heart surgery secondary to complications of DGS.
image source: globalgenes.org


 An infant with a cleft palate secondary to DGS
picture  5: An infant with a cleft palate secondary to DGS.
image source: omicsgroup.org

Other names for DiGeorge syndrome are:

  • 22q11.2 deletion syndrome
  • velocardiofacial syndrome
  • conotruncal anomaly face syndrome (4)

How is DiGeorge syndrome inherited?

DiGeorge syndrome occurs randomly. In fact, most cases are not inherited in nature. Many people who have it don't have a family history of DiGeorge syndrome. About 10% of DiGeorge syndrome cases are inherited from parents. If you have a DiGeorge syndrome, there is a 10% chance that you can pass the disease to your offspring. (4, 5, and 6)

DiGeorge syndrome symptoms

  • Facial anomalies - underdeveloped chin, ears rotated back, and big eyelids.
  • Cardiac issues - It affects the aortic chamber of the heart. People with DiGeorge syndrome have a mild heart defect.
  • abnormalities of the thymus gland - The thymus gland plays an important role in the development of the immune system. It is responsible for the development and maturation of T-lymphocyte. In the case of DiGeorge syndrome, the patient has a small thymus gland, which leads to a low level of T-lymphocyte.The patient has a weak immune system, which makes him prone to various types of infections.There is also a possibility that the immune system attacks its own healthy cells leading to conditions like idiopathic thrombocytopenia purpura, arthritis, and hemolytic anemia.
  • abnormality of the parathyroid gland - Patients with DiGeorge syndrome is prone to seizures because of low calcium level in the blood.
  • Other clinical features - delayed speech, cleft palate, behavioral problem, difficulty swallowing, difficulty eating, and learning disability. (4, 5, 6, and 7)

An adult patient living with DGS pictures
picture 6: An adult patient living with DGS.
image source: medicine.yale.edu

A girl diagnosed with DGS picture
picture 7: A girl diagnosed with DGS.
image source:  pinimg.com

A patient with DGS requires a holistic care and needs to be seen by a group of doctors pictures
picture 8: A patient with DGS requires a holistic care and needs to be seen by a group of doctors.
image source: medicalnewstoday.com

A baby on oxygen therapy to manage the complication of DGS disease pictures
picture 9: A baby on oxygen therapy to manage the complication of DGS.
image source: bestonlinemd.com


DiGeorge syndrome prevalence

DiGeorge syndrome is an extremely rare disease. The ratio is 1 for every 3000 live births. (6, 8)

DiGeorge syndrome treatment

The treatment for DiGeorge syndrome is geared towards management of the symptoms and preventing further complications. Therapy plays a big role in the overall wellness of the patient. To prevent seizure attacks, the patient's calcium level should be normalized. Heart-related problems should be dealt with using medications or surgery when deemed necessary. The T-lymphocyte level should be regularly checked because an extremely low T-lymphocyte could lead to fatal complications. The treatment approach primarily depends on the overall condition of the patient. (6, 8, and 9)

DiGeorge syndrome life expectancy

People with DiGeorge syndrome have a normal lifespan for as long as the clinical manifestations and complications are managed correctly. Children with DGS usually survive into adulthood and the symptoms and complications become less of an issue as the person grows old. Patients are highly encouraged to have a regular checkup so that problems will be detected the earliest possible time and the patient will be able to receive timely care. (4, 10)


DiGeorge syndrome prognosis

The prognosis is good for as long as the symptoms are managed in a correct and timely manner. (2, 4)

References
  1. https://emedicine.medscape.com/article/886526-overview
  2. https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/digeorge-syndrome
  3. https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543
  4. https://en.wikipedia.org/wiki/DiGeorge_syndrome
  5. https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome
  6. https://www.nhs.uk/conditions/digeorge-syndrome/
  7. https://www.medicalnewstoday.com/articles/308533.php
  8. http://www.immunedisease.com/about-pi/types-of-pi/digeorge-syndrome.html
  9. http://www.aaaai.org/conditions-and-treatments/primary-immunodeficiency-disease/digeorge-syndrome
  10. https://www.webmd.boots.com/children/guide/digeorge-syndrome



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