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6q16 microdeletion syndrome

What is 6q16 microdeletion syndrome?

A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

Other condition names

  • Del(6)(q16)
  • Monosomy 6q16
  • Prader-Willi-like syndrome due to microdeletion 6q16

Inheritance type

Unknown

Prevalence

  • Worldwide: <1 in 1,000 000
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.