Information on Kabuki Syndrome

 Kabuki syndrome (KS), a inherited disorder characterized by odd facial features, skeletal abnormalities, and intellectual injury. In most cases, Kabuki syndrome arises spontaneously. Rarely, the condition is present in other family members in a pattern that suggests a genetic link. Kabuki syndrome (KS) is rare, estimated at 1:32,000 births. The condition affects males and females similarly and seems to be more common in Japanese people. Children and adults with Kabuki syndrome have a distinctive facial appearance with long eye openings which may slant upwards.

The eyebrows are generally arched. The ears may seem major and the corners of the mouth tend to turn downwards. There is a small indentation below the lower lip. Some children with Kabuki syndrome are loose jointed and almost all have rather prominent finger pads. Other physical features including heart, kidney and bowel problems have been found in several, but certainly not all, of the children. Most children with Kabuki syndrome develop gradually even though various have been of normal size at birth. Some children have a head size which is below the normal range.

Some children are susceptible to infections when young, especially ear infections. There's no treat but medical procedures and therapies can frequently assist symptoms. Speech therapy is an important service for the child with KS. For those whose speech is more severely affected, sign language may used in conjunction with verbalization. Sensory integration therapy can be used to advance their tolerance to different touch sensations. Behaviors modification therapy is also helpful this condition. As most children with KS are hypotonic and they tend to have joint laxity, physical and occupational therapy is typically beneficial.