Coffin - Lowry syndrome (CLS)

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  • Coffin Lowry syndrome (CLS) is a rare X-linked dominant disorder. Patients with CLS exhibit characteristic facies and severe mental retardation; there may also be associated with hydrocephaly and skeletal abnormalities

    • facial features of CLS include hypertelorism, anteverted nares, patulous lips and prominent nasal regions
    • skeletal abnormalities include drumstick terminal phalanges, or tapering fingers
      • also noted as occurring in cases of CLS include small stature, severe scoliosis, and retardation of bone aging
    • CLS is considered a dominant disorder and the CLS locus has been mapped to the q22.3 region of the X chromosome - this finding supported by the lack of male-to-male transmission reported in the literature

Reference:

  1. Ausio J et al. Syndromes of Chromatin remodeling. Clinical Genetics 2003; 64(2):83-95

Last reviewed 01/2018