This is a multifaceted hereditary syndrome involving organ systems throughout the body. The facial features superficially resemble those of the cosmetics worn by actors of a Japanese theatrical form known as Kabuki and hence the name.
The eyebrows are highly arched and broad but the hair may be sparse. The space between the lids is long but not widened. Sometimes the outside portion of the lower eyelid is turned outward to some degree and the upper lids may appear to droop. The eyelashes are thick. Sometimes the eyes are not aligned properly (strabismus). The white part of the eyes (sclera) sometimes is bluish in color. The ears are large and unusually cupped.
Physical growth is slower than normal after birth and many individuals are short in stature. Deformities in the vertebrae further contribute to this and some individuals have an abnormal curvature to the spine known as scoliosis or kyphosis. The roof of the mouth is usually highly arched and sometimes has a defect (cleft palate). The teeth are small, widely spaced, and frequently malformed. Feeding difficulties are common. Muscles may be ‘floppy’ and joints are often abnormally mobile. Cognitive defects are a feature in most individuals and seizures may occur. About half of patients have hearing loss.
An immune defect is a common feature and many individuals have frequent middle ear infections and sinusitis. Various kidney and liver problems can occur. Cardiac defects are common. Often the anus is improperly formed and males can have a small penis and may have undescended testicles.
Most instances of Kabuki syndrome occur without a family history but there have been affected offspring born to affected parents. A single mutation is usually responsible and thus an affected parent may pass it on directly with a 50% probability for each child (autosomal dominant inheritance). Most instances are likely the result of new mutations.
The typical physical appearance may not be present at birth since the features usually evolve over time. Medical geneticists, neurologists and orthopedists are the most likely to make the diagnosis but because of the extensive and widespread anomalies in most cases the diagnosis is likely the result of a team effort with confirmation by gene testing. Likewise the management team is multidisciplinary with speech and physical therapists, nutritionists, learning specialists, and members of multiple medical specialists involved.