Phenotypic spectrum and management issues in Kabuki syndrome

Objective: To report the phenotypic spectrum and management issues of child ren 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 develo pmental delay and hypotonia. Feeding difficulties, with or without cleft pa late, were common; 5 patients required gastrostomy tube placement. Developm ental quotients/IQs in all but 2 were 60 or less. Seizures were seen in les s than half of the patients, but ophthalmologic and otologic problems were common, particularly recurrent otitis media. Congenital heart defects were present in 7 (39%); 3 patients underwent repair of coarctation of the aorta . Other features included urinary tract anomalies, malabsorption, joint hyp ermobility and dislocation, congenital hypothyroidism, idiopathic thrombocy topenic purpura, and in one patient, autoimmune hemolytic anemia and hypoga mmaglobulinemia. All patients had negative family histories for Kabuki synd rome. Conclusions: Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ systems, with a broad spectrum of neuromuscular dy sfunction and mental ability. Given that 18 ethnically diverse patients wer e identified from 2 genetics programs, it appears that this syndrome is mor e common in North American non-Japanese patients than previously appreciate d.