Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients.
Eight cases of Kabuki syndrome in non-Japanese patients are presented. (Although the name Kabuki Make-up syndrome has been used to identify this condition, the authors recommend that the term "make-up" be deleted from the designation as it has caused problems with some of the families.) Clinical features include a characteristic facies, developmental delay, musculoskeletal abnormalities, and dermatoglyphic differences. The phenotype appears to evolve over time making the diagnosis difficult in infancy. The progressive changes in the facial characteristics as well as the musculoskeletal problems suggest an underlying defect of the connective tissue. Finally, the syndrome appears to be more common in the non-Japanese population than previously appreciated, particularly in the cleft palate population.
Burke
L W
LW
Department of Human Genetics, Allegheny-Singer Research Institute, Pittsburgh, Pennsylvania 15212-4772, USA.
Jones
M C
MC
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000473:pathology*; D004392:Dwarfism / Q000473:pathology; D004431:Ear, External / Q000002:abnormalities; D005143:Eyelids / Q000002:abnormalities; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology; D007621:Karyotyping; D008046:Lip / Q000002:abnormalities; D008297:Male; D013577:Syndrome