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Diseases

Genetic and Rare Diseases Information Center (GARD)

Kabuki syndrome


Other Names for this Disease
  • NKS
  • Niikawa-Kuroki syndrome
  • KMS
  • Kabuki make up syndrome
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?

Kabuki syndrome is present from birth (it is congenital). People with Kabuki syndrome have similar, characteristic facial features. These include arched eyebrows; wide eyes that often slant upwards; long and thick eyelashes; a blue tint to the whites of the eyes (blue sclerae); prominent ears; downward slanting corners of the mouth; 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][2]

Most people with Kabuki syndrome have mild to moderate intellectual disability, although this varies considerably. Early speech and language delay is common and some language-related difficulties usually persist.[3]

Other medical problems may also be present. Congenital heart defects are common. Skeletal abnormalities may include a short and curved pinky finger (clinodactyly); spine abnormalities; and joint dislocations. Affected people often have weak muscle tone (hypotonia); feeding difficulties; seizures; and a small head size (microcephaly). Vision and hearing problems may also be present. Some affected children are more susceptible to infections, particularly ear infections.[2]
Last updated: 2/8/2016

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%
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%
Conductive hearing impairment 50%
Hydrocephalus 50%
Joint hypermobility 50%
Microdontia 50%
Non-midline cleft lip 50%
Ptosis 50%
Reduced number of teeth 50%
Scoliosis 50%
Sensorineural hearing impairment 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%
Short palm 7.5%
Atria septal defect 5%
Atrioventricular canal defect 5%
Coarctation of aorta 5%
Cupped ear 5%
Natal tooth 5%
Pulmonic stenosis 5%
Abnormality of the breast -
Abnormality of the teeth -
Abnormality of the vertebrae -
Anal atresia -
Anal stenosis -
Anoperineal fistula -
Autoimmune thrombocytopenia -
Autosomal dominant inheritance -
Behavioral abnormality -
Broad nasal tip -
Cafe-au-lait spot -
Central hypotonia -
Congenital hip dislocation -
Congenital hypothyroidism -
Crossed fused renal ectopia -
Decreased body weight -
Dental malocclusion -
Depressed nasal tip -
Eversion of lateral third of lower eyelids -
Feeding difficulties in infancy -
Generalized joint laxity -
Hearing impairment -
Hemolytic anemia -
High palate -
Highly arched eyebrow -
Hirsutism -
Hypodontia -
Intellectual disability -
Intestinal malrotation -
Long eyelashes -
Long palpebral fissure -
Malabsorption -
Microcephaly -
Micropenis -
Muscular hypotonia -
Neonatal hypoglycemia -
Posteriorly rotated ears -
Postnatal growth retardation -
Preauricular pit -
Premature thelarche -
Prominent fingertip pads -
Protruding ear -
Recurrent aspiration pneumonia -
Recurrent otitis media -
Seizures -
Short 5th finger -
Short columella -
Short stature -
Sparse eyebrow -
Strabismus -
Ureteropelvic junction obstruction -
Ventricular septal defect -
Wide nasal bridge -
X-linked dominant inheritance -

Last updated: 7/1/2016

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. Marla J. F. O'Neill. Kabuki Syndrome. OMIM. 2016; http://www.ncbi.nlm.nih.gov/omim/147920.
  2. Margaret Adam. Kabuki syndrome. Orphanet. April, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322.
  3. Adam MP, Hudgins L.. Kabuki syndrome: a review. Clinical Genetics. 2005; 67(3):209-219.


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