Coffin Lowry syndrome

• Article
• 2021-03-07

Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and face) and skeletal abnormalities, delayed intellectual development, short stature and hypotonia. Characteristic facial features include an underdeveloped maxillary bone (maxillary hypoplasia), a wide nose, protruding nostrils (nostrils), an abnormally prominent eyebrow, sloping eyelid creases (palpebral fissures), widely spaced eyes (hypertelorism), large low tight ears and unusually thick eyebrows. Skeletal abnormalities may include abnormal curvature of the spine from front to back and side to side (kyphoscoliosis), unusual prominence of the sternum (pigeon chest or pectus carinatum), dental abnormalities and short, hyperextensible, tapering fingers. Other features may include feeding and breathing problems, developmental delay, hearing impairment, clumsy walking, stimulus-induced drop episodes, and heart and kidney involvement. The condition affects men and women in equal numbers, but symptoms are usually more severe in men. The condition is caused by a faulty gene, RSK2 , found on the X chromosome in 1996 (Xp22.2-p22.1). So the syndrome is usually more serious in men because men have only one X chromosome while women have two. It is unclear how changes (mutations) in the DNA structure of the gene lead to the clinical findings.

Therapy

There is no cure and no standard treatment for Coffin-Lowry syndrome. Treatment is symptomatic and supportive and may include physical and speech therapy and educational services.

Prognosis

The prognosis for individuals with Coffin-Lowry syndrome varies depending on the severity of the symptoms. Early intervention can improve the outlook for patients. The lifespan of some individuals with Coffin-Lowry syndrome is shorter.

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