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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Kabuki syndrome


Other Names for this Disease

  • Kabuki make up syndrome
  • KMS
  • Niikawa-Kuroki syndrome
  • NKS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Kabuki syndrome?

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. [1]

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. [2]

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. [3] 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. [3]  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. [3]
Last updated: 10/14/2010

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.

Signs and Symptoms Approximate number of patients (when available)
Abnormal dermatoglyphics 90%
Abnormal form of the vertebral bodies 90%
Abnormality of the eyelashes 90%
Abnormality of the nose 90%
Brachydactyly syndrome 90%
Cognitive impairment 90%
Highly arched eyebrow 90%
Macrotia 90%
Sparse lateral eyebrow 90%
Abnormality of immune system physiology 50%
Abnormality of the aorta 50%
Abnormality of the cardiac septa 50%
Blue sclerae 50%
Cerebral cortical atrophy 50%
Cleft palate 50%
Conductive hearing impairment 50%
Hydrocephalus 50%
Joint hypermobility 50%
Microcephaly 50%
Microdontia 50%
Muscular hypotonia 50%
Non-midline cleft lip 50%
Ptosis 50%
Reduced number of teeth 50%
Scoliosis 50%
Sensorineural hearing impairment 50%
Short stature 50%
Strabismus 50%
Ventriculomegaly 50%
Abnormal localization of kidney 7.5%
Abnormality of the hip bone 7.5%
Chorioretinal coloboma 7.5%
Congenital diaphragmatic hernia 7.5%
Cryptorchidism 7.5%
Displacement of the external urethral meatus 7.5%
EEG abnormality 7.5%
Hypoplasia of penis 7.5%
Lip pit 7.5%
Mask-like facies 7.5%
Microcornea 7.5%
Nystagmus 7.5%
Obesity 7.5%
Preauricular skin tag 7.5%
Precocious puberty 7.5%
Renal hypoplasia/aplasia 7.5%
Seizures 7.5%
Short palm 7.5%
Abnormality of the teeth -
Abnormality of the vertebrae -
Anal atresia -
Anal stenosis -
Anoperineal fistula -
Autoimmune thrombocytopenia -
Autosomal dominant inheritance -
Blue sclerae -
Cafe-au-lait spot -
Cleft palate -
Coarctation of aorta -
Congenital hip dislocation -
Congenital hypothyroidism -
Crossed fused renal ectopia -
Cryptorchidism -
Defect in the atrial septum -
Depressed nasal tip -
Eversion of lateral third of lower eyelids -
Feeding difficulties in infancy -
Hearing impairment -
Hemolytic anemia -
High palate -
Highly arched eyebrow -
Hirsutism -
Intellectual disability -
Intestinal malrotation -
Joint hypermobility -
Long palpebral fissure -
Macrotia -
Malabsorption -
Microcephaly -
Micropenis -
Muscular hypotonia -
Posteriorly rotated ears -
Postnatal growth retardation -
Preauricular pit -
Premature thelarche -
Prominent fingertip pads -
Ptosis -
Recurrent aspiration pneumonia -
Recurrent otitis media -
Scoliosis -
Seizures -
Short 5th finger -
Short stature -
Sparse eyebrow -
Strabismus -
Ureteropelvic junction obstruction -
Ventricular septal defect -
Wide nasal bridge -

Last updated: 9/2/2014

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.


References
  1. Kabuki Syndrome. Online Mendelian Inheritance in Man (OMIM). September 3, 2010; http://www.ncbi.nlm.nih.gov/omim/147920. Accessed 9/30/2010.
  2. Adam MP, Hudgins L.. Kabuki syndrome: a review. Clinical Genetics. 2004;
  3. Kabuki Syndrome. Orphanet. April, 2003; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2322. Accessed 9/25/2010.


Other Names for this Disease
  • Kabuki make up syndrome
  • KMS
  • Niikawa-Kuroki syndrome
  • NKS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.