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Niikawa-Kuroki syndrome

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A syndrome of stunted stature, mental retardation and a characteristic facial appearance.

Description

A multiple abnormality syndrome, marked by characteristic facies with long palpebral fissures with eversion of the lower eyelids similar to the make-up of actors of Kabuki, a traditional Japanese theatrical form. Additional features include postnatal growth deficiency, scoliosis, short fifth finger, persistence of the finger pads, and bone defects, especially of the spine, hands, and hip joint. Approximately one-half of reported patients have cleft lip and/or cleft palate or lip pits. Sixty percent of patients demonstrate recurrent otitis media, and more than half have hearing loss. Sex predilection equal in males and females. The genetic background is uncertain but it is likely that affected persons represent new mutations for an autosomal dominant gene.

According to the very early genetic articles listed below, the syndrome was seen almost exclusively in children of Japanese extraction born to rather elderly parents. However, this has been disproven. Kabuki ocurrs in all races and nationalities.

We thank Margot Schmiedge, founder of the Kabuki Syndrome Network, for information submitted.

Bibliography

  • N. Niikawa, N. Matsuura, Y. Fukushima, T. Ohsawa, T. Kajii:
    Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears and postnatal growth deficiency.
    Journal of Pediatrics, St. Louis, 1981, 99 (4): 565-569.
  • Y. Kuroki, Y. Suzuki, H. Chyo, A. Hata, I. Matsui:
    A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip and skeletal anomalies associated with postnatal dwarfism and mental retardation.
    Journal of Pediatrics, St. Louis, 1981, 99: 570-573.
  • N. Niikawa, Y. Kuroki, T. Kajii:
    The dermatoglyphic pattern of the Kabuki make-up syndrome.
    Clinical Genetics, Copenhagen, 1982, 21: 315-320.
  • N. Niikawa, Y. Kuroki, T. Kajii, N Matsuura, S. Ishikiriyama, H. Tonokim, N. Ishikawa, Y. Yamada, M. Fujita, H. Umemoto H, et al:
    Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients.
    American Journal of Medical Genetics, 1988, 31:565-589.

  • Y. Kuroki, N. Katsumata, T. Eguchi, Y. Fukushima, S. Suwa, T. Kajii:
    Precocious puberty in Kabuki makeup syndrome.
    Journal of Pediatrics, St. Louis, 1987 May, 110 (5): 750-752.

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