Other Names for this Disease
- Kabuki make up syndrome
- Niikawa-Kuroki syndrome
What are the signs and symptoms of Kabuki syndrome?
What causes Kabuki syndrome?
Is genetic testing available for Kabuki syndrome?
How might Kabuki syndrome be treated?
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. 
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- Kabuki syndrome. Genetics Home Reference. March 2011; http://ghr.nlm.nih.gov/condition/kabuki-syndrome. Accessed 9/8/2011.
- 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.
- Discovered gene causes Kabuki syndrome. National Human Genome Research Institute. August, 15, 2010; http://www.genome.gov/27540868. Accessed 9/27/2010.
- National Institutes of Health. Kabuki Syndrome Gene Identified. NIH Research Matters. August 23, 2010; http://www.nih.gov/researchmatters/august2010/08232010kabuki.htm. Accessed 9/25/2010.
- DYSCERNE— Kabuki Syndrome Guideline Development Group. Management of Kabuki Syndrome: A Clinical Guideline. Dyscerne. August 3, 2010; http://www.dyscerne.org/dysc/digitalAssets/0/264_Kabuki_Guidelines.pdf. Accessed 9/27/2010.