3. DIGEORGE SYNDROME
Velocardiofacial syndrome (VCFS)
Conotruncal anomaly face syndrome (CTAF)
Shprintzen syndrome
Sedlackova syndrome.
CATCH 22 syndrome.
22q11.2 deletion syndrome
WHAT IS ANOTHER NAME
FOR DIGEORGE?
Fig: Angelo DiGeorge
He was an Italian American physician and
pediatric endocrinologist who contributed to the
research on the autosomal dominant
immunodeficiency now commonly referred to as
DiGeorge syndrome.
https://images.app.goo.gl/1suTqEzXo7vv62JH7
4. WHAT IS DI GEORGE
SYNDROME?
DiGeorge syndrome is a chromosomal
disorder that typically affects the 22nd
chromosome.
Several body systems develop poorly,
and there may be medical problems,
ranging from a heart defect to behavioral
problems and a cleft palate.
The disorder has an autosomal
dominant inheritance pattern.
https://images.app.goo.gl/VRmtoriAEx9yrYU67
5. WHAT CAUSES DIGEORGE SYNDROME?
o About 90% of DGS cases are a result of a deletion in
chromosome 22, more specifically on the long arm
(q) at the 11.2 locus (22q11.2).
o Most of these mutations arise de novo with no genetic
abnormalities noted in the genome of the parents of
children with DGS.
o Researchers have identified over 90 different genes at
this locus, some of which they have studied in mouse
models.
o The most studied of these genes is T-box
transcription factor 1 (TBX1), which correlates with
severe defects in the development of the heart, thymus,
and parathyroid glands of mouse models.
o TBX1 also correlates with neuromicrovascular
anomalies, which may be responsible for the
behavioral and developmental abnormalities seen in
DGS
https://upload.wikimedia.org/wikipedia/commons/9/9e/22_del_q11.2.png
Fig: Schematic diagram depicting the
deletion and some of the genes in this region
6. SYMPTOMS
Congenital Heart Problem (Heart murmur
and bluish skin)
Frequent infections
Specific facial features
Cleft palate
Delayed growth
Difficulty feeding
Failure to gain weight
Gastrointestinal problems
Breathing problem
Poor muscle tone
Delayed development
Delayed Speech development or nasal
sounding speech
Learning delay or disabilities
Behavior problems
Fig: A child with DiGeorge syndrome showing
characteristic dysplasia of ears and mouth and
abnormally wide distance between the eyes.
https://images.app.goo.gl/K9zJYFCxuhZt2eRLA
8. DIAGNOSIS
Fluorescent In Situ Hybridization (FISH)
https://youtu.be/b81DcJC1jAs
DiGeorge syndrome is
most commonly
diagnosed with a
blood test called a
FISH analysis.
9. TREATMENT
Thymus transplantation can be used to address absence of the thymus
in the rare.
Bacterial infections are treated with antibiotics.
Cardiac surgery is often required for congenital heart abnormalities
Hypoparathyroidism causing hypocalcaemia often requires lifelong
Vitamin D and calcium Supplements.
Cleft palate by surgical repair.
Immunization with live vaccines
Although there is no cure for DiGeorge syndrome (22q11. 2 deletion syndrome), treatments
can usually correct critical problems, such as a heart defect or cleft palate.
10. REFERENCES
NHS website. (2021, November 18). DiGeorge syndrome (22q11 deletion). nhs.uk.
https://www.nhs.uk/conditions/digeorge-syndrome/
NCBI - https://www.ncbi.nlm.nih.gov/books/NBK549798/
Kindt, T. J., Osborne, B. A., & Goldsby, R. A. (2006, August 15). Kuby Immunology,
Sixth Edition (6th ed.). W. H. Freeman & Company.
Bawle, E. V., MD. (2021, October 14). DiGeorge Syndrome: Practice Essentials,
Background, Pathophysiology. https://emedicine.medscape.com/article/886526-overview
22q11.2 deletion syndrome: MedlinePlus Genetics. (n.d.).
https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/
DiGeorge Syndrome - Developmental and Behavioral Pediatrics - Golisano Children’s
Hospital - University of Rochester Medical Center. (n.d.).
https://www.urmc.rochester.edu/childrens-hospital/developmental-
disabilities/conditions/digeorge-syndrome.aspx