Kabuki syndrome

A congenital syndrome characterized by neurodevelopmental dysfunction, DWARFISM, a FACIES with long palpebral fissures and eversion of the lateral third of the lower eyelids, and other anatomical abnormalities. A heterozygous mutation in the KMT2D gene is associated with Kabuki Syndrome-1 (OMIM: 147920). Mutations in the KDM6A gene have been associated with Kabuki Syndrome-2 (OMIM: 300867).

Also Known As:

Kabuki Make-Up Syndrome; Kabuki Makeup Syndrome; Kabuki make up syndrome; Niikawa-Kuroki syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Kabuki syndrome: 105
Body Regions
- Head
  - Face
    - Kabuki syndrome: 105
Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Kabuki syndrome: 105
Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Labyrinth Diseases: 309
    - Vestibular Diseases: 47
      - Kabuki syndrome: 105

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