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NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders.

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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, down-slanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large low-set 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 (pigeon chest, or pectus carinatum), dental abnormalities, and short, hyperextensible, tapered fingers. Other features may include feeding and respiratory problems, developmental delay, mental retardation, hearing impairment, awkward gait, stimulus-induced drop episodes, and heart and kidney involvement. The disorder affects males and females in equal numbers, but symptoms are usually more severe in males. The disorder is caused by a defective gene, RSK2, which is found in 1996 on the X chromosome (Xp22.2-p22.1). Thus, the syndrome is typically more severe in males because males have only one X chromosome, while females have two. It is unclear how changes (mutations) in the DNA structure of the gene lead to the clinical findings.

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.

Prognosis

The prognosis for individuals with Coffin-Lowry syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients. Life span is reduced in some individuals with Coffin-Lowry syndrome.

Research

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.

View a list of studies currently seeking patients.

View more studies on this condition.

Organizations

National Organization for Rare Disorders (NORD)

Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

55 Kenosia Avenue
Danbury, CT 06810
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

Coffin-Lowry Syndrome Foundation

Clearinghouse for information on CLS. Provides a general forum for exchanging experiences, advice, and information with other CLS families. Works to facilitate referrals of newly diagnosed individuals and to encourage medical and behavioral research in order to improve methods of social integration of CLS individuals.

675 Kalmia Place, NW
Issaquah, WA 98027
Tel: 425-427-0939 (M-F between 6pm and 9 pm PST)

National Institute of Mental Health (NIMH)

National Institutes of Health, DHHS
6001 Executive Blvd. Rm. 8184, MSC 9663
Bethesda, MD 20892-9663
Tel: 301-443-4513/866-415-8051 301-443-8431 (TTY)
Fax: 301-443-4279

The Arc of the United States

Promotes and protects the human rights of people with intellectual and developmental disabilities and actively supports their full inclusion and participation in the community throughout their lifetimes.

1825 K Street, NW
Suite 1200
Washington, DC 20006
Tel: 202-534-3700 800-433-5255
Fax: 202-534-3731

March of Dimes

Works to improve the health of babies by preventing birth defects and infant mortality through programs of research, community services, education, and advocacy.

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: 914-997-4488 888-MODIMES (663-4637)
Fax: 914-428-8203

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