Resources
Symptoms
Other Names
Associated Disorders
Cause

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

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

Cause

Deletion of a small part of chromosome 22