Health Issues Summary

The health issues of Kabuki Syndrome are variable. Many different health issues have been observed among children with Kabuki syndrome, however an individual child may have only a sub-set of those issues.

Those born with heart malformations, cleft lip/palate, or other obvious physical anomalies, will be more likely to receive an early diagnosis. For others, this process may take longer.

Feeding difficulties and slow weight gain (failure-to-thrive) often becomes apparent early in the infant’s life. In addition, respiratory and ear infections generally occur more frequently. If there have been no other obvious physical anomalies, this is usually the time a family begins to seek guidance from their family doctor or pediatrician.

As the child matures, developmental delays become evident. Depending on the resources available, most children begin to receive Early Childhood Intervention therapies during their preschool years to aid in their optimal development.

RutherfordLow muscle tone (hypotonia) is characteristic of Kabuki Syndrome. The muscles lack stamina and have a decreased response time to stimuli. As a result, the children tire more easily and require a wider gait for balance. Infants often have a ‘floppy’ appearance with weak arms and legs and poor head control.

Loose ligaments is also a characteristic of Kabuki and is often mentioned in the same sentence as hypotonia. Although they contribute to similar actions, they are two separate issues. Ligaments are the tissue that connects bones to one another and should hold a certain tightness to restrict the joints to a normal range of motion. In the individual with Kabuki, there is less tension and therefore a generalized joint hypermobility. Physiotherapy is important to help strengthen muscles and correct misalignment of joints.

Speech delays are commonly seen in children with Kabuki. Low muscle tone, cleft/high arched palate, and poor closure of the soft palate may all be contiributing factors. Speech therapy is usually initiatiated before the child enters the school system.

Most individuals will have some level of intellectual disability. Published articles report a mild to moderate intellectual scoring. Although there have been few studies dedicated specifically to intellectual and adaptive behaviors, one such study identified a clear pattern of weakness in visuospatial constructioni and relative strength in verbal and non-verbal reasoning.

Short stature is a characteristic of Kabuki. Although not a health issue per se, it is one of the five cardinali characteristics of Kabuki. The adult with Kabuki will be two or more standard deviations below the norm.

In addition to the global delays mentioned above, children with Kabuki may have other health issues. Some of the more common issues may include dental disorders (including hypodontia and misalignment of teeth), skeletal disorders (including shortness of fingers and vertebral anomalies), impaired hearing, cardiac conditons, renali anomalies, seizure disorders, and eye disorders (inlcuding strabismusi, nystagmusi and colobomai). Less common issues may include immunity and blood disorders, hypoglycemiai, malrotation of intestines, anal atresiai, premature breast development in girls, and undescended testes and hypospadius in boys. There are numerous other conditions that have been shown to occur in individuals with Kabuki, but it is sometimes difficult to determine if they are individual-specific or syndrome-specific.

Early diagnois is key. It allows early assessment and evaluations, setting in motion a team of health care professionals. As a syndrome, there is no cure for Kabuki. However, many of the conditions associated with Kabuki can be corrected or alleviated with appropriate intervention.

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