Coffin Lowry Syndrome
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What is Coffin Lowry Syndrome?Is there any treatment?What is the prognosis?What research is being done?OrganizationsWhat is Coffin Lowry Syndrome?
Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities,
mental retardation, short stature, and hypotonia. 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. 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, hyperextensible, tapered fingers. Additional abnormalities may also be present. Other features
may include feeding and respiratory problems, developmental delay, mental retardation, hearing impairment, awkward gait, flat
feet, and heart and kidney involvement. The disorder affects males and females in equal numbers, however, symptoms may be
more severe in males. Females may show mild mental retardation. The disorder is caused by a defective gene, RSK2, which was
found in 1996 on the X chromosome (Xp22.2-p22.1). The gene codes for a member of a growth factor regulated protein kinase.
It is unclear how changes (mutations) in the DNA structure of the gene lead to the clinical findings.
Is there any treatment?
There is no cure and no standard course of treatment for Coffin-Lowry syndrome. Treatment is symptomatic and supportive, and
may include physical and speech therapy and educational services.
What is the prognosis?
The prognosis for individuals with Coffin-Lowry syndrome varies depending on the severity of symptoms. Early intervention
may improve the outlook for patients.
What research is being done?
The NINDS supports and conducts research on genetic disorders, such as Coffin-Lowry syndrome, in an effort to find ways to
prevent, treat, and, ultimately, cure these disorders.
Select this link
to view a list of studies currently seeking patients.
Organizations
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
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Last updated February 12, 2007
