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22q13 Deletion Syndrome 

What is 22q13 deletion syndrome?

22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a rare, genetic condition that is characterized by low muscle tone in newborns, issues with speech, developmental delay, and dysmorphic features. 

What are the symptoms of 22q13 deletion syndrome?

Symptoms of this condition are present very early in life, typically within the first six months. They can vary from person to person, but they include:

  • Low muscle tone
  • Developmental delay
  • Heart defects
  • Intellectual impairment
  • Absent or severely delayed speech
  • Seizures
  • Low perception of pain
  • Low perspiration
  • Distinct facial features
  • Kidney abnormalities
  • Arachnoid cysts

About 75% of those with 22q13 deletion syndrome are also diagnosed with an autism spectrum disorder. 

What causes 22q13 deletion syndrome?

A deletion on chromosome 22 causes this syndrome. This deletion is often sporadic, meaning that it is not passed down from parent to child. For about 20% of cases, a translocation causes this condition. Ring 22 can also cause 22q13 deletion syndrome, which is when both ends of the chromosome are lost, and the new ends join together to form a ring. 

How is 22q13 deletion syndrome diagnosed?

A chromosomal microarray analysis is used to diagnose this condition. Further testing may be conducted to discover the specific cause. 

What are the treatments for 22q13 deletion syndrome?

A team of specialists may be needed, and treatment is symptomatic. 

Where can I find out more about 22q13 deletion syndrome?

22q13 Deletion Syndrome Articles