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Coffin-Lowry syndrome

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A familial syndrome characterised by dwarfism and severe mental retardation, muscle weakness, unusual prominence of the breastbone (pectus carinatum), lax ligamenta, vertebral anomalies, hypotonia, and peculiar facies and digits. Characteristic facial features may include an underdeveloped upper jaw bone (maxillary hypoplasia), a broad nose, protruding nostrils (nares), an abnormally prominent brow, downslanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large ears, and unusually thick eyebrows. Large soft hands with short, hyperextensible tapering fingers, tufted drumstick and short distal phalanges and flat feet characterize limb abnormalities. The disorder affects males and females in equal numbers, however, symptoms may be more severe in males. Females may show mild mental retardation. Other features may include hearing impairment, awkward gait, and heart and kidney involvement. Onset in postnatal period. It is transmitted with X-linked intermediate inheritance.

We thank Pavlo Milan for information submitted.


  • G. S. Coffin, E. Siris, L. C. Wegienka:
    Mental retardation with osteocartilaginous anomalies.
    American Journal of Diseases of Children, Chicago, 1966; 112: 205-213.
  • R. B. Lowry, J. R. Miller, F. C. Fraser:
    A new dominant gene mental retardation syndrome: associated with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.
    American Journal of Diseases of Children, Chicago, 1971; 121: 496-500.

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