Kabuki Syndrome - Appearance

Appearance

The facial appearance of individuals with this syndrome include long eyelids with turning up of the lateral third of the lower eyelid, a broad and depressed nasal tip, large prominent earlobes, and a cleft or high-arched palate.

Other clinical features often include scoliosis, short fifth finger, persistence of fingerpads, and X-ray abnormalities of the vertebrae, hands, and hip joints.

Read more about this topic:  Kabuki Syndrome

Famous quotes containing the word appearance:

    The whole appearance is a toy. For this,
    The dove in the belly builds his nest and coos,
    Selah, tempestuous bird. How is it that
    The rivers shine and hold their mirrors up,
    Like excellence collecting excellence?
    Wallace Stevens (1879–1955)

    This mesa plain had an appearance of great antiquity, and of incompleteness; as if, with all the materials for world-making assembled, the Creator had desisted, gone away and left everything on the point of being brought together, on the eve of being arranged into mountain, plain, plateau. The country was still waiting to be made into a landscape.
    Willa Cather (1873–1947)

    February is a suitable month for dying. Everything around is dead, the trees black and frozen so that the appearance of green shoots two months hence seems preposterous, the ground hard and cold, the snow dirty, the winter hateful, hanging on too long.
    Anna Quindlen (b. 1952)