Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial and skeletal abnormalities, mental retardation, short stature, characteristic hands, and hypotonia. Characteristic facial features may include an underdeveloped upper jaw bone (maxillary hypoplasia), an abnormally prominent brow, down-slanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large ears, and unusually thick eyebrows. Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis), unusual prominence of the breastbone (pectus carinatum), and short, tapered fingers. Additional abnormalities may also be present. Other features may include feeding and respiratory problems, developmental delay, hearing impairment, awkward gait, flat feet, and heart and kidney involvement.
A rare, X-linked genetic syndrome characterized by abnormalities of the head, face, and axial skeleton; mental retardation; short stature; and weak muscle tone.