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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
General
Kabuki syndrome
Database Correlations
OMIM 147920
References
- OMIM :accession 147920
- UniProt :accession O14686
- ARUP consult: Kabuki Syndrome (KMT2D) Sequencing
https://arupconsult.com/ati/kabuki-syndrome-kmt2d-sequencing