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. 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. 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. 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. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&term=coffin+lowry+AND+human[mh]+AND+english[la]&db=PubMed&orig_db=PubMed&filters=on&pmfilter_EDatLimit=5+Years 1 http://clinicaltrials.gov/ct2/results?term= /disorders/coffin_lowry/pubs_coffin_lowry.htm /disorders/coffin_lowry/xml_coffin_lowry.xml xml_coffin_lowry.xml V720 Coffin-Lowry Syndrome Foundation

675 Kalmia Place, NW

Issaquah WA 98027 CoffinLowry@Gmail.com http://clsf.info 425-427-0939 (M-F between 6pm and 9 pm PST) 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. V91 National Organization for Rare Disorders (NORD)

55 Kenosia Avenue

Danbury CT 06810 orphan@rarediseases.org http://www.rarediseases.org 203-744-0100 Voice Mail 800-999-NORD (6673) 203-798-2291 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. V658 National Institute of Mental Health (NIMH)

National Institutes of Health, DHHS

6001 Executive Blvd. Rm. 8184, MSC 9663 Bethesda MD 20892-9663 nimhinfo@nih.gov http://www.nimh.nih.gov 301-443-4513/866-415-8051 301-443-8431 (TTY) 301-443-4279 V100 The Arc of the United States

1825 K Street, NW

Suite 1200 Washington DC 20006 Info@thearc.org http://www.thearc.org 202-534-3700 800-433-5255 202-534-3731 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. V41 March of Dimes

1275 Mamaroneck Avenue

White Plains NY 10605 askus@marchofdimes.com http://www.marchofdimes.com 914-997-4488 888-MODIMES (663-4637) 914-428-8203 Works to improve the health of babies by preventing birth defects and infant mortality through programs of research, community services, education, and advocacy.