Medical Management Summary

Kabuki syndrome is complex multiple anomalyi syndrome. As such, follow up and preventative management should include a team of professionals, well coordinated by an experienced specialist such as a pediatrician.

Following is a listing of advised evaluations upon diagnosis:

  • Genetics - The geneticist can provide ongoing information regarding Kabuki’s genetic implications for the family, recent clinical findings, and pertinent genetic studies.
  • Cardiology - If a heart defect is not detected at birth, a referral should be made for assessment of possible cardiac anomalies.
  • Ear, Nose and Throat (ENT) - Frequent ear infections, cleft or high arched palate, hearing loss, and inner ear malformations require evaluation and continued care by an ENT.
  • Audiology - There is an increased risk of hearing loss (conductive and sensorineural). Hearing should be thoroughly evaluated at birth and periodically thereafter. Oftentimes, Ear, Nose and Throat specialists employ an audiologist so this evaluation can be done at the same time as an ENT appointment.
  • Opthamology - Thorough, routine eye exams are recommended due to frequent strabismusi, nystagmusi, ptosisi, colobomai and other defects.
  • Orthopedics - Joint laxity, foot/ankle/gait issues, hip/patellai dislocations, rib/vertebral and other skeletal anomalies are frequent findings that require orthopedic evaluation and care.
  • Dentistry - Missing, unusually shaped, widely spaced (or crowded), and misaligned teeth are common dental issues. Sensitivity to oral stimulus frequently prevents proper oral hygiene. Early and routine treatment from a pediatric dentist is recommended.
  • Urology - Due to an increased risk of urinary tract malformations, an abdominal ultrasound is recommended.

Following are a listing of further evaluations for related conditions:

  • Immunology - Abnormal immunity test results (particularly hypogammaglobulinemiai and IgA), recurrent infections, and allergies should be assessed by an immunologist.
  • Hematology – Autoimmune conditions such as idiopathici thrombocytopenic purpurai and hemolytic anemiai are associated with KS.
  • Endocrinology – Hypoglycemiai, growth hormone deficiency, hypothyroidism, early breast development (girls), and adolescent obesity are possible conditions.
  • Feeding and Gastroenterology – Infant/childhood feeding difficulties (some requiring tube feeding) are common and may persist. Chronic constipation and/or diarrhea are prevalent. Sensitivity to oral stimulus frequently interferes with eating. Assistance to maintain adequate nutritional intake is often necessary.
  • Neurology – Individuals with Kabuki have an increased risk of abnormal brainwave activity (EEG) and seizures. Dimple or sinusi in tailbone/sacral area is common. Structural brain abnormalities have been reported.
  • Anesthesiology – Certain physical (structural) features associated with Kabuki could complicate the effects of anesthesia. Glucose monitoring during all surgeries is important for tube-fed children in case of undiagnosed hypoglycemia.
  • Behavior – Anxiety, attention problems, obsessive/compulsive traits, and autistic behaviors are often observed. There is an increased need for structure. Consultation regarding appropriate educational services, counseling, and/or medication management is important.