Phenotypic anomalies in Kabuki syndrome and their implications – an analysis of two cases in the light of scientific literature
Paulina Nosek-Wasilewska1, Aldona Ploszka1, Marcin Tkaczyk1, Jacek Rubik2
Affiliation and address for correspondenceKabuki syndrome (KS1: OMIM 147920, KS2: OMIM 300867) is a rare disorder characterised by dysmorphic face and limbs, microcephaly, short stature, and concomitant multiorgan congenital defects. The prevalence is estimated at 1:32,000–86,000 live births. Most patients are also diagnosed with mild to moderate intellectual disability. Molecular diagnosis includes an analysis for the two most common mutations in KMT2D (KS1), also known as MML2, and KDM6A (KS2) genes. Children diagnosed with Kabuki syndrome require multidisciplinary care. This paper presents detailed case reports of two children diagnosed with Kabuki syndrome, who presented with different manifestations of kidney disease. One of the patients required kidney transplantation, which determines the length and quality of life.
