Craniofacial Syndrome

It is possible that the major title of the record Chromosome 22q11.2 Deletion Disorder is not the name you anticipated. Please examine the basic synonyms detailing to find the alternative name(s) and problem class(s) covered by this report.


  • DiGeorge disorder
  • velocardiofacial disorder
  • Shprintzen syndrome
  • conotruncal abnormality face disorder
  • Caylor cardiofacial disorder
  • autosomal dominant Opitz G/BBB syndrome

Problem Class

  • None

General Discussion
Chromosome 22q11.2 deletion disorder is connected with a variety of issues consisting of: hereditary heart disease, palate problems, immune system dysfunction including autoimmune illness, low calcium (hypocalcemia) as well as other endocrine irregularities such as thyroid problems as well as growth bodily hormone shortage, intestinal issues, feeding problems, kidney irregularities, hearing loss, seizures, skeletal problems, minor facial distinctions, as well as understanding as well as behavior distinctions. The symptoms of this condition are very variable, even among participants of the very same household.

Chromosome 22q11.2 deletion disorder is a disorder dued to a little piece of chromosome 22 missing. A variety of separately explained diagnoses consisting of DiGeorge syndrome (DGS), velocardiofacial disorder (VCFS), conotruncal abnormality face disorder (CTAF), autosomal leading OpitzG/BBB syndrome and Cayler Cardiofacial disorder were all originally thought to be separate disorders prior to the chromosome 22q11. 2 deletion was determined in people affected with all of these conditions.

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