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Disease Profile
Kabuki syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Antenatal
ICD-10
Q87.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
NKS; Niikawa-Kuroki syndrome; KMS;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Ear, Nose, and Throat Diseases;
Summary
Kabuki
Symptoms
Most people with Kabuki syndrome have mild to moderate
Other medical problems may also be present.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
|
---|---|---|---|
80%-99% of people have these symptoms | |||
Abnormal dermatoglyphics |
Abnormal fingerprints
|
0007477 | |
Butterfly vertebrae | 0003316 | ||
Eversion of lateral third of lower eyelids | 0007655 | ||
Hemivertebrae |
Missing part of vertebrae
|
0002937 | |
Highly arched eyebrow |
Broad, arched eyebrows
High-arched eyebrows
High, rounded eyebrows
Arched eyebrows
Thick, flared eyebrows
[ more ] |
0002553 | |
Long eyelashes |
Increased length of eyelashes
Unusually long eyelashes
[ more ] |
0000527 | |
Macrotia |
Large ears
|
0000400 | |
Protruding ear |
Prominent ears
Prominent ear
[ more ] |
0000411 | |
Short 5th finger |
Short fifth finger
Short pinky finger
Short pinkie finger
Short little finger
Short fifth fingers
[ more ] |
0009237 | |
Short columella | 0002000 | ||
Short middle phalanx of finger |
Short middle bone of finger
|
0005819 | |
Sparse lateral eyebrow |
Limited hair on end of eyebrow
|
0005338 | |
30%-79% of people have these symptoms | |||
Abnormal cardiac septum morphology | 0001671 | ||
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 | |
Cleft palate |
Cleft roof of mouth
|
0000175 | |
Coarctation of aorta |
Narrowing of the aorta
Narrowing of aorta
[ more ] |
0001680 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 | |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 | |
Too much cerebrospinal fluid in the brain
|
0000238 | ||
Hypodontia |
Failure of development of between one and six teeth
|
0000668 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 | |
Microcephaly |
Decreased circumference of cranium
Abnormally small skull
Small head circumference
Reduced head circumference
Decreased size of skull
[ more ] |
0000252 | |
Microdontia |
Decreased width of tooth
|
0000691 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 | |
Drooping upper eyelid
|
0000508 | ||
Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ] |
0002719 | |
0002650 | |||
Sensorineural hearing impairment | 0000407 | ||
Small stature
Decreased body height
[ more ] |
0004322 | ||
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | ||
Ventriculomegaly | 0002119 | ||
Widely spaced teeth |
Wide-spaced teeth
Widely-spaced teeth
[ more ] |
0000687 | |
5%-29% of people have these symptoms | |||
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 | |
Atrioventricular canal defect | 0006695 | ||
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 | |
Short fingers or toes
|
0001156 | ||
Coloboma |
Notched pupil
|
0000589 | |
Congenital diaphragmatic hernia | 0000776 | ||
Crossed fused renal ectopia | 0004736 | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 | |
Cupped ear |
Cup-shaped ears
Simple, cup-shaped ears
[ more ] |
0000378 | |
Duplicated collecting system | 0000081 | ||
0002353 | |||
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 | |
Hydronephrosis | 0000126 | ||
Hypoplasia of penis |
Underdeveloped penis
|
0008736 | |
Hypospadias | 0000047 | ||
Lip pit | 0100267 | ||
Mask-like facies |
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ] |
0000298 | |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 | |
Natal tooth |
Born with teeth
Teeth present at birth
[ Cause Kabuki
The KMT2D gene gives the body instructions to make an The KDM6A gene gives the body instructions to make an enzyme called lysine-specific demethylase 6A. This enzyme helps to remove methyl groups from certain histones. Like lysine-specific methyltransferase 2D, this enzyme also helps to control the activity of certain genes. Research suggests that the two enzymes work together. Mutations in either of these genes result in the absence of the related enzyme, which disrupts histone methylation and impairs the activation of certain genes needed for normal development.[2] DiagnosisMaking a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources
TreatmentThe resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. Management Guidelines
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
References
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