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.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.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormal form of the vertebral bodies||90%|
|Abnormality of the eyelashes||90%|
|Abnormality of the nose||90%|
|Sparse lateral eyebrow||90%|
|Abnormality of immune system physiology||50%|
|Abnormality of the aorta||50%|
|Abnormality of the cardiac septa||50%|
|Cerebral cortical atrophy||50%|
|Conductive hearing impairment||50%|
|Non-midline cleft lip||50%|
|Reduced number of teeth||50%|
|Sensorineural hearing impairment||50%|
|Abnormal localization of kidney||7.5%|
|Abnormality of the hip bone||7.5%|
|Congenital diaphragmatic hernia||7.5%|
|Displacement of the external urethral meatus||7.5%|
|Hypoplasia of penis||7.5%|
|Preauricular skin tag||7.5%|
|Atria septal defect||5%|
|Atrioventricular canal defect||5%|
|Coarctation of aorta||5%|
|Abnormality of the breast||-|
|Abnormality of the teeth||-|
|Abnormality of the vertebrae||-|
|Autosomal dominant inheritance||-|
|Broad nasal tip||-|
|Congenital hip dislocation||-|
|Crossed fused renal ectopia||-|
|Decreased body weight||-|
|Depressed nasal tip||-|
|Eversion of lateral third of lower eyelids||-|
|Feeding difficulties in infancy||-|
|Generalized joint laxity||-|
|Highly arched eyebrow||-|
|Long palpebral fissure||-|
|Posteriorly rotated ears||-|
|Postnatal growth retardation||-|
|Prominent fingertip pads||-|
|Recurrent aspiration pneumonia||-|
|Recurrent otitis media||-|
|Short 5th finger||-|
|Ureteropelvic junction obstruction||-|
|Ventricular septal defect||-|
|Wide nasal bridge||-|
|X-linked dominant inheritance||-|
Making 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.
The 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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These 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.
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I have a friend who has Kabuki make up syndrome and she wants to know will she be able to have children? See answer