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22q11.2 Deletion Syndrome

Other Names for this Disorder

  • Chromosome 22q11.2 deletion syndrome

  • Velocardiofacial syndrome

  • VCFS

  • DiGeorge syndrome

  • Shprintzen syndrome

  • Sedlackova syndrome

  • CATCH22

  • Autosomal dominant Opitz G/BBB syndrome

  • Conotruncal anomaly face syndrome

  • Cayler cardiofacial syndrome 

Similar and Co-Occurring Disorders

  • chromosome 22q11.2 duplication syndrome

  • digeorge syndrome

  • chromosome 6pter-p24 deletion syndrome

Symptoms

  • Cleft Palate

  • Heart defects

  • Recurrent infections

  • Unique facial characteristics

  • Feeding problems

  • Kidney abnormalities

  • Hypoparathyroidism

  • Thrombocytopenia

  • Scoliosis

  • Hearing Loss

  • Developmental delay

  • Learning disability

  • Autoimmune disorders

  • Personality disorders

  • Low levels of calcium

  • Issues with development of larynx, trachea and Esohagus

  • Growth hormone deficiency

  • Seizures

  • Skeletal abnormalities

  • Eye abnormalities

  • Central nervous system abnormalities

Linked Genes

Deletion of a small part of chromosome 22

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This site is incomplete as I am working on adding more resources to it. If you need specific information,  Facebook message me and I will put it up as soon as I get time. 

Sincerely,

Dawn Kohler and the DMKbooks Staff.

 Disclaimer: this is simply a collection of resources. Dawn Kohler and dmkbooks do not guarantee results from any of these resources and recommend researching these resources further before you and your caregiver proceed. Dawn is not a doctor or a lawyer. 

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