Other Names for this Disease
- Kabuki make up syndrome
- Niikawa-Kuroki syndrome
On this page
Individuals with Kabuki syndrome have similar facial features, which include arched eyebrows, long eye openings that often slant upwards, prominent ears, downward slanting corners of the mouth, long and thick eyelashes, a blue tint to the whites of the eyes (blue sclerae), and a depressed tip of the nose. People with Kabuki syndrome may also have cleft lip; a highly arched or cleft palate; and widely spaced, irregular teeth. Most individuals with Kabuki syndrome have mild to moderate intellectual disability although the degree of learning disability varies considerably. Early speech and language delay is common and some language-related difficulties usually persist.  Individuals with Kabuki syndrome can also have a wide range of medical problems. About 50 percent of children with this syndrome are born with heart defects.  Skeletal abnormalities may include a short and curved pinky finger (clinodactyly), scoliosis, and dislocation of the hip or knee cap. Affected individuals frequently have low muscle tone (hypotonia), feeding difficulties, seizures, and small head size (microcephaly). They may also have vision problems such as nystagmus and crossed-eyes (strabismus). Over 50% of individuals with Kabuki experience hearing loss.  Some children are susceptible to infections when they are young, especially ear infections. A few affected individuals develop obesity in adolescence. Additional features that have been reported in children with Kabuki syndrome include fingertip pads, slow growth, kidney or urinary tract abnormalities, widely spaced nipples, premature breast development, early puberty, undescended testes, and hernias in the groin (inguinal) or around the belly button (umbilical), generalized hairiness (hirsutism), and abnormal skin pigmentation. 
The Human Phenotype Ontology provides the following list of signs and symptoms for Kabuki syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Kabuki Syndrome. Online Mendelian Inheritance in Man (OMIM). September 3, 2010; http://www.ncbi.nlm.nih.gov/omim/147920. Accessed 9/30/2010.
- Adam MP, Hudgins L.. Kabuki syndrome: a review. Clinical Genetics. 2004;
- Kabuki Syndrome. Orphanet. April, 2003; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2322. Accessed 9/25/2010.