Kabuki syndrome type 1

Genetics

• associated with defects in KMT2D

Clinical manifestations

• congenital mental retardation syndrome with additional features, including
  • postnatal dwarfism
  • a peculiar facies characterized by
    • long palpebral fissures
    • 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/147920