What is Kleestra Syndrome??

Introduction: Kleestra Syndrome is a rare genetic disorder where a tiny piece is missing one of the body’s 46 chromosomes. Its absence is known to cause major symptoms of the syndrome. It also carries many characteristic traits that most likely feature developmental delays, distinctive facial features, behavioral issues, learning disabilities or difficulties and hypotonia (low-muscle tone). Hypotonia causes a motor delay but most cases children walk independently by age 3. And most have moderate to severe intellectual disability with expressive speech delay or little speech development--nonverbal communication is possible.  Other common known features may include heart conditions, minor genital anomalies in males, sleep difficulties, slightly unusual hands; such as incurving fingers, possible kidney anomalies, and dental anomalies. Kleestra is also known to exhibit features of behavioral developments such as ADHD and/or Autism.

What causes Kleestra: Its said in most cases, both parents will have normal chromosomes. The chromosome break is then said to have occurred out of the blue. Most cases of Kleefstra syndrome are not inherited, however. The genetic change occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Where both of the same parents have normal chromosomes, it is unlikely known that another child will be born with Kleefstra syndrome or any other chromosome disorder. However, it is highly recommended that both parents have a chromosome test, to possibly avoid bearing another child with any chromosome disorder(s).

Living with Kleefsta:  I have read that a child living with this rare genetic disorder is to have a well meant life, but just at a slower pace. Fortunately, the assistance, therapy and care received from doctors, therapists and support from family and friends make it easier to move forward.


For more information on Kleestra Syndrome, see links below.

http://kleefstrasyndrome.org/
http://www.rarechromo.org/information/Chromosome%20%209/Kleefstra%20Syndrome%20FTNW.pdf