Kabuki syndrome and differential diagnosis [29 genes]

Kabuki syndrome is a congenital disease of intellectual disability, postnatal growth retardation, peculiar facies characterized by long palpebral fissures with eversion of the distal third of the lower eyelids, wide and depressed nasal tip, large and prominent earlobes, palate cleft or ogival, scoliosis, short fifth finger, radiographic abnormalities of the vertebrae, hands and hip joints and recurrent otitis media in childhood.

Kabuki syndrome: 1 / 32,000 newborns (ORPHA:2322).

The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention of associated comorbidities and symptomatic management appropriate to the prognosis of the disease.

Service indicated in the presence of phenotypic data suggestive of the disease and, therefore, when the level of suspicion is at least moderate, taking into account that the genes typically considered in the differential diagnosis are also included.

In patients with a clinical diagnosis of Kabuki syndrome, the molecular diagnosis rate does not exceed 80% thus, in up to 20% of patients, it is unknown. The simultaneous detection of SNVs and CNVs using an exome approach is the best diagnostic approach, considering that copy number variants have a prominent representation in the case of KDM6A, where they account for 20% of the mutations.