Kabuki syndrome type 2

Genetics

• associated with defects in KDM6A

Clinical manifestations

• congenital mental retardation syndrome with additional features
  • postnatal dwarfism
  • peculiar facies characterized by
    • long palpebral fissures with eversion of the lateral third of the lower eyelids
    • a broad & depressed nasal tip
  • large prominent earlobes
  • a cleft or high-arched palate
  • scoliosis
  • short fifth finger
  • persistence of fingerpads
• recurrent otitis media in infancy

Radiology

• radiographic abnormalities of the vertebrae, hands, & hip joints

More general terms

• Kabuki syndrome

Database

• OMIM: https://mirror.omim.org/entry/300867