Kabuki... Let Me Brief You

Kabuki syndrome is an anomaly occurring at a rate of 1 in 32,000 children that was first described patients as having had characteristic facial features, anomalies, short stature, flexable joints and in some, mental retardation. Because the facial features
of the patients resembled the make-up of Japanese Kabuki Dancers, the term ‘Kabuki Syndrome’ was suggested.

Patients often have abnormal eyelids, extremely arched eyebrows, hypotonia, thick eyelashes, a depressed nasal tip, can be diagnosed as Failing to Thrive, have short 5^th fingers, are extremely small-statured, organ abnormalities, and prominent ears.

Patients with KS often times show normal growth patterns at birth, but most develop failure to thrive and postnatal growth retardation during the first year of life, which becomes more pronounced with age. Children have the inability to gain weight as a normal child would.

Recently, a study  found that over half of the patients with failure to thrive in infancy went on to develop an increased body mass index or obesity in middle childhood or adolescence which is par for the course with KS.

[source: http://www.sakks.org/news/ks_mini_review.pdf]

Welcome to Kabuki Syndrome!

Just over 1 year ago, our son Cooper was diagnosed with Kabuki Syndrome.  It is our quest in life now to discover and uncover as much as we can about this rare disorder.  We strive to network with those we don't know and educate those who do, and fight Cooper's fight.  You can follow our discoveries and Cooper's progress as we learn more and more about Kabuki Syndrome. 

Stay Posted and Take Care.