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DiGeorge Syndrome

Name of disease:

DiGeorge Syndrome (DGS)

ICD-10 diagnosis code:

D82.1

Causes:

DiGeorge syndrome is caused by the deletion of chromosome 22q11. It is not usually passed on to a child by their parents, but it is in a few cases.

Pattern of inheritance:

90% de novo mutationt 10% inherited from parents in an autosomal dominant pattern

Prevalence:

1-5:10,000

Diagnosis:

Diagnosis is suspected upon clinical examination and confirmed by detection of the 22q11.2 deletion.

Age of onset:

Neonatal

Common signs and symptoms:

DiGeorge syndrome can cause a range of problems, some of the most common issues are: Heart murmur and bluish skin due to poor circulation of oxygen-rich blood as a result of a heart defect Frequent infections 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 Breathing problems Poor muscle tone Delayed development, such as delays in rolling over, sitting up or other infant milestones Delayed speech development or nasal-sounding speech Learning delays or disabilities Behavior problems

Available treatments (medicinal and non-medicinal):

Currently no cure to this disease, treatment generally focuses on the specific signs and symptoms present in each individual. For example, someone with DiGeorge syndrome may have: Regular hearing tests, blood tests, heart scans and measurements of their height and weight Speech therapy to help with speech problems and feeding problems Physiotherapy for problems with strength and movement Treatment from a podiatrist for foot and leg problems, and devices such as shoe inserts (orthoses) for leg pain Surgery for more severe problems, for example, surgery to repair heart defects or an operation to repair a cleft palate

Disease management tips:

Many people with DiGeorge syndrome who reach adulthood will have a relatively normal life span, but ongoing health problems can sometimes mean their life expectancy is a bit lower than usual. An assessment of their development and learning ability before starting school – if your child has a learning disability, they may benefit from attending a special school.

References:

https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543 https://www.nhs.uk/conditions/digeorge-syndrome/ https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=567 https://rarediseases.info.nih.gov/diseases/10299/22q112-deletion-syndrome https://rarediseases.org/rare-diseases/complete-digeorge-syndrome/

Other useful websites:

Patient Groups: International 22q11.2 Deletion Syndrome Foundationhttps://www.22q.org/ Unique – Rare Chromosome Disorder Support Group https://www.rarechromo.org/