Children and adults have a distinctive facial appearance with long eye openings that may slant upwards, arched eyebrows and prominent ears.
Almost half the children with Kabuki syndrome have congenital heart defects (see entry Heart Defects). Other physical features include cleft palate or palatal dysfunction (see entry Cleft Lip and/or Palate), kidney, bowel and/or dental problems. Most infants with Kabuki syndrome are hypotonic (floppy) and loose jointed. Many children require tube feeding in infancy and some need a gastrostomy. Feeding difficulties tend to resolve with age.
Young children with Kabuki syndrome are susceptible to infections, especially ear infections and many require surgery for middle ear problems. Immunological abnormalities may include ITP (see entry Immune Thrombocytopenia) and haemolytic anaemia.
Kabuki syndrome is associated with speech (see entry Speech and Language Impairment) and motor delay with mild-to-moderate learning disability. Most children require extra help in school. The degree of learning disability varies considerably, and a few individuals have almost age-appropriate general intelligence.
Some children have a growth hormone deficiency, but most children grow slowly and their final height is usually below that which would be predicted by parental heights. Many children have a head size which is below the normal range. Many individuals tend to put on weight, particularly around the trunk, from mid-childhood.