Phenotypic spectrum and management issues in Kabuki syndrome.

OBJECTIVE: To report the phenotypic spectrum and management issues of children with Kabuki syndrome (Niikawa-Kuroki syndrome) from North America. DESIGN: A case series of children (n = 18) with clinical findings of Kabuki syndrome. SETTING: Medical genetics clinics in Washington, Alaska, and Arizona. RESULTS: Most patients had postnatal growth retardation, and all had developmental delay and hypotonia. Feeding difficulties, with or without cleft palateⁱ, were common; 5 patients required gastrostomy tube placement. Developmental quotients/IQs in all but 2 were 60 or less. Seizures were seen in less than half of the patients, but ophthalmologic and otologic problems were common, particularly recurrent otitisⁱ media. Congenitalⁱ heart defects were present in 7 (39%); 3 patients underwent repair of coarctationⁱ of the aortaⁱ. Other features included urinary tract anomalies, malabsorption, joint hypermobility and dislocation, congenital hypothyroidism, idiopathicⁱ thrombocytopenic purpuraⁱ, and in one patient, autoimmune hemolytic anemiaⁱ and hypogammaglobulinemiaⁱ. All patients had negative family histories for Kabuki syndrome. CONCLUSIONS: Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ systems, with a broad spectrum of neuromuscular dysfunction and mental ability. Given that 18 ethnically diverse patients were identified from 2 genetics programs, it appears that this syndrome is more common in North American non-Japanese patients than previously appreciated.