11 Facts About DiGeorge syndrome

DiGeorge syndrome is typically due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as 22q11.

The syndrome was first described in 1968 by American physician Angelo DiGeorge.

Features of this DiGeorge syndrome vary widely, even among members of the same family, and affect many parts of the body.

Children with DiGeorge syndrome have a specific profile in neuropsychological tests.

Adults with DiGeorge syndrome are a specifically high-risk group for developing schizophrenia.

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Individuals with DiGeorge syndrome have a higher risk of developing early onset Parkinson's disease .

The neural crest forms many of the structures affected in DiGeorge syndrome, including the skull bones, mesenchyme of the face and palate, the outflow tract of the heart, and the thymus and parathyroid stroma.

Diagnosis of DiGeorge syndrome can be difficult due to the number of potential symptoms and the variation in phenotypes between individuals.

Specialty clinics that provide multi-system care allow for individuals with DiGeorge syndrome to be evaluated for all of their health needs and allow for careful monitoring of the patients.

DiGeorge syndrome is estimated to affect between one in 2000 and one in 4000 live births.

Signs and symptoms of DiGeorge syndrome are so varied that different groupings of its features were once regarded as separate conditions.