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
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