A Syndrome Affecting All Five Sense Organs: A Rare Congenital Disorder of Kabuki Makeup Syndrome With Multiple...

Kabuki syndrome is an autosomal dominant disorder characterized by distinct facial features, including long palpebral fissures, a short columella with a flat, broad nasal tip, ptosis, and cleft lip/palate. The syndrome was named for the resemblance of the facial features to the make-up worn by traditional Kabuki performers. We report the case of a 10-month-old female infant admitted for cleft palate repair. The patient exhibited normal developmental milestones but had recurrent respiratory infections secondary to her cleft lip and palate. The child presented with significant facial dysmorphism, including long palpebral fissures with ptosis, multiple preauricular skin tags, a short columella with a depressed nasal tip, and microtia. These findings prompted differential diagnoses of Goldenhar syndrome, branchio-oculo-facial syndrome, and Kabuki syndrome. Whole exome sequencing confirmed a diagnosis of Kabuki syndrome. Given the autosomal dominant nature of this disorder, early identification and management of potential complications are crucial, as is parental counseling regarding the implications for future pregnancies.