Kabuki Make-up syndrome (aka KMS and Niikawa-Kuroki syndrome) was first encountered in 1967 and then reported in 1981 by Dr. Niikawa and Dr. Kuroki who were working independently in Japan. It is so named because of strange facial features in patients that strongly resemble the famous Japanese art form of Kabuki.
KMS is rare with an estimation of about 1:32,000 births. However, it is believed to be widely under-diagnosed because the number of medical professionals knowledgeable about the syndrome is still growing.
Kabuki syndrome patients typically present with five main manifestations: characteristically strange facial features, skeletal abnormalities, postnatal growth deficiency, mental retardation, and abnormalities of dermal ridges. The disorder is usually diagnosed by a geneticist because blood and chromosomal testing are not effective at this time. Diagnosis is made based on the recognition of four out of the five manifestations, with the distinct facial characteristics being most imperative.
The commonly described facial features of KMS are: wide-set eyes with arched eyebrows that are sparse in the lateral half, low-set and large ears that appear to stick out, broad or flat nasal tip, long eyelid fissures, and high arched palate with malocclusion of teeth.
Associated skeletal anomalies include: shortness of fingers (particularly the fifth or pinkie finger), unusual shortness of bone, and vertebrae abnormalities such as scoliosis.
Occasionally children with Kabuki syndrome have been found to be growth hormone deficient, which sometimes accounts for their short stature. Most patients are well below the 50th percentile for height within their age group.
Most patients (about 92%) with Kabuki syndrome experience a mild to moderate intellectual disability, but occasionally mental retardation or developmental disability can be diagnosed as severe.
In 2004, 93% of Kabuki Make-up syndrome patients were noted to have dermatoglyphic abnormalities (anomalies in dermal ridge or fingerprint formations) on their fingers and toes. Fetal finger pads are also commonly reported in KMS.
Some additional abnormalities are sometimes reported with Kabuki syndrome such as: frequent ear infections with hearing loss, urogenital and kidney issues, rectal and intestinal issues, cleft lip or palate (40%), immune abnormalities, and cardiac abnormalities (58%).
The etiology of Kabuki Make-up syndrome is as yet unclear but some geneticists have speculated Kabuki is caused by the micro-deletion of a chromosome. A study by Dr. Milunsky and colleagues, published in 2003 in Clinical Genetics, discovered a submicroscopic duplication on the 8th chromosome at 8p22-23.1 in six unrelated cases. However, since this initial finding, Dr. Milunsky has collaborated with three research groups to try to duplicate these results, with limited success. Multiple other research groups using many different methodologies have also not been able to confirm the initial results. For the great majority of children, chromosomal studies yield normal results. Microscopic deletions or duplications will not exhibit themselves in the chromosomal studies done at present.1
The syndrome strikes males and females equally and has a low recurrence in sibling. Sometimes the disorder is associated with advanced parental age at the time of birth, but there is no indisputable evidence to state that this is a contributing factor. Though initially reported in Japan, KMS has been described in South America and Europe as well.
No cure has been found for Kabuki syndrome but there are things that can be done to ensure good health and to make sure that people with KMS achieve their full potential. Early intervention is crucial followed up for life with these therapies: occupational, physical, speech, and music. Community inclusion and acceptance can offer vast improvement in social skills and overall quality of life for KMS patients. Some options to consider are swimming, horseback riding, and community peer group activities.
