1. NINDS Coffin Lowry Information Page Information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).Category Health Conditions and Diseases coffin lowry syndrome......coffin lowry syndrome information sheet compiled by the National Institute ofNeurological Disorders and Stroke (NINDS). More about coffin lowry syndrome, http://www.ninds.nih.gov/health_and_medical/disorders/coffin_lowry.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Coffin Lowry Syndrome Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Coffin Lowry Information Page Reviewed 02-25-2003 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Coffin Lowry Syndrome? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Coffin Lowry Syndrome? 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?

2. Welcome Information about the organization as well as CLS. Includes FAQs, news, links, parent and foundation Category Health Conditions and Diseases coffin lowry syndrome...... http://clsfoundation.tripod.com/

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3. Coffin-Lowry Syndrome coffin lowry syndrome information from OMIM. coffin lowry syndrome. Coffin Lowry information from NORD http://www.familyvillage.wisc.edu/lib_cls.htm

Coffin-Lowry Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Coffin-Lowry Syndrome" Who to Contact Coffin-Lowry Syndrome Foundation (CLSF) Mary Hoffman 3045 255th Avenue S.E. Issaquah, WA 98029 425-427-0939 Call after 5 pm PST or on weekends E-mail: CLSFoundation@yahoo.com Website: http://www.freeyellow.com/members3/clsf/index.html CLSF serves as a clearinghouse for information on CLS and as a general forum for exchanging experiences, advice and information with other CLS families. The Foundation seeks to become a visible group in the medical, scientific, educational and professional communities in order to facilitate referrals of newly diagnosed individuals, and to encourage medical and behavioral research aimed at finding the cause of CLS in order to improve methods of social integration of CLS individuals. CLS has a parent-to-parent matching program and will match families geographically or based on similar concerns such as scoliosis or other health problems. They provide a newsletter

4. Coffin-Lowry coffin lowry syndrome, an in depth article by Terry Patterson along with some images.Category Health Conditions and Diseases coffin lowry syndrome......COFFINLOWRY SYNDROME. by Terry Patterson. Clinical signs of Coffin-Lowry syndrome.Coffin-Lowry syndrome(CLS), is characterized by several deformities. http://www.mssc.edu/biology/B305/GTS/ss97/coflowry/coflowry.htm

COFFIN-LOWRY SYNDROME by Terry Patterson Clinical signs of Coffin-Lowry syndrome Coffin-Lowry syndrome(CLS), is characterized by several deformities. It is most noticeable in the face of the afflicted individual. A broad pug nose, protruding nares (nostrils), large ears and mouth, and prominent brow are just a few of the phenotypic signs of CLS. Individuals with CLS tend to be short in stature with stooped posture. Their limbs are characterized by flat feet, fullness of forearms, and hyperextensible fingers that are short, puffy, and tapered. A more serious defect is that the individuals have fused, shortened chordae tendineae. This causes mitral regurgitation. People with CLS are also mentally retarded. These are just a few of signs of this disorder. Some others include the following: arrested hydrocephalus(fluid on the brain), hydronephrosis, panacinar emphysema, and premature exfoliation of primary teeth.(OMIM 1997) Inheritance pattern Coffin-Lowry syndrome is an X-linked dominant trait. Males with this disease show all of the symptoms with varying degree. Females that are heterozygous for CLS seem to show some signs of having the disease, such as slight mental retardation. Several mildly affected females suffer from depressive psychosis. It is not known whether the depressive psychosis is caused by CLS or if it is coincidental. Mechanism of CLS Coffin-Lowry syndrome was first studied in 1971 and still very little is known about this disorder. CLS is a rare disorder that seems to affect mostly males. Trivier et al. (1996) demonstrated deletion, nonsense, and missense mutations of the RSK2 gene in people with CLS. The RSK2 gene codes for a member of the growth-factor-regulated protein kinases. The two missenses affect sites critical for the function of RSK2. The mutated RSK2 proteins were found to be inactive in a S6 kinase assay.(Trivier 1996) This provides direct evidence that abnormalities in the RSK signaling pathway cause Coffin-Lowry syndrome.

5. Coffin-Lowry Syndrome CoffinLowry Syndrome. coffin lowry syndrome. Short description of cell lines http://www.bdid.com/coffinlowry.htm

HOME Coffin-Lowry Syndrome COFFIN LOWRY SYNDROME Short description of cell lines Complete list of candidates associated to Coffin-Lowry syndrome The Coffin-Lowry Syndrome Foundation ... HOME

6. NINDS - News And Events Sorry! There are no press releases for coffin lowry syndrome. Useyour browser's Back button to return to your previous activity. http://www.ninds.nih.gov/health_and_medical/news.htm?url=/health_and_medical/dis

7. Coffin & Lowry coffin lowry syndrome SYNDROME DE COFFIN LOWRY MUTATIONS DATA BASE BIBLIOGRAPHY SUBMISSION of ADDITIONAL MUTATIONS and POLYMORPHISMS . USEFUL LINKS http://www-ulpmed.u-strasbg.fr/chimbio/diag/coffin

COFFIN LOWRY SYNDROME SYNDROME DE COFFIN LOWRY MUTATIONS DATA BASE BIBLIOGRAPHY SUBMISSION of ADDITIONAL MUTATIONS and POLYMORPHISMS Letters and forms- Instructions resquestedfor mutation analysis in patients Clinical description form USEFUL LINKS

8. Coffin-Lowry Syndrome (CLS) Coffin-Lowry syndrome, the synonyms, a summary and major features.Category Health Conditions and Diseases coffin lowry syndrome......Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. View the FullRecord Syndrome, CoffinLowry syndrome (CLS). Synonyms, Coffin syndrome 2. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome238.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Coffin-Lowry syndrome (CLS) Synonyms Coffin syndrome 2 Coffin-Siris-Wegienka syndrome soft hands syndrome Summary Mental and somatic retardation in association with characteristic facies, large soft hands, and various bone abnormalities. A variant syndrome consists of growth and mental retardation, nail hypoplasia, hirsutism, and coarse facies with a large mouth, macroglossia, and bushy eyebrows. Major Features Head and neck: Midfacial hypoplasia, prominent forehead, flat occiput, prominent supraorbital ridges, and mandibular prognathism with relative maxillary retrognathia, in association with ear, nose and eye anomalies give the face a characteristic appearance. Thickened calvaria, large anterior fontanel, and delayed suture closing. Ears: Prominent pinnae. Eyes: Hypertelorism, downslanting palpebral fissures, and blepharoptosis. Nose: Large nose with flared alae and broad base and elongated philtrum. Mouth and oral structures: Large mouth, thick lips, open pouting mouth, and furrowed tongue. Malocclusion, absent or abnormal permanent incisors, and frequent periodontal disease with tooth loss.

9. Google Directory - Health > Conditions And Diseases > Genetic Disorders > Coffin Search only in coffin lowry syndrome Search the Web coffin lowry syndrome CoffinLowry Syndrome Foundation - http//clsfoundation.tripod.com/ Information about the organization as well as CLS. http://directory.google.ch/Top/Health/Conditions_and_Diseases/Genetic_Disorders/

Directory Help Search only in Coffin Lowry Syndrome Search the Web Coffin Lowry Syndrome Health Conditions and Diseases Genetic Disorders Go to Directory Home Web Pages Viewing in Google PageRank order View in alphabetical order Coffin-Lowry Syndrome Foundation http://clsfoundation.tripod.com/ Information about the organization as well as CLS. Includes FAQs, news, links, parent and foundation contact details. Coffin Lowry Syndrome http://www.ninds.nih.gov/health_and_medical/disorders/coffin_lowry.htm Information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Missouri Southern State College http://www.mssc.edu/biology/B305/GTS/ss97/coflowry/coflowry.htm Coffin lowry syndrome, an in depth article by Terry Patterson along with some images. National Library of Medicine http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome238.html Coffin-Lowry syndrome, the synonyms, a summary and major features. NORD General information about coffin lowry syndrome, its alternative names and further resources. Reader Digest Health http://www.rd.com/common/nav/index.jhtml?articleId=8613574

10. MEDLINEplus: Facial Injuries And Disorders Association). Specific Conditions/Aspects coffin lowry syndrome (NationalInstitute of Neurological Disorders and Stroke); Craniofacial http://www.nlm.nih.gov/medlineplus/facialinjuriesanddisorders.html

Skip navigation Other health topics: A B C D ... List of All Topics Facial Injuries and Disorders Contents of this page: General/Overviews Coping Pictures/Diagrams Treatment ... Children Search MEDLINE for recent research articles on Facial Injuries and Disorders You may also be interested in these MEDLINEplus related pages: Bell's Palsy Cleft Lip and Palate Trigeminal Neuralgia Brain and Nervous System ... Injuries and Wounds General/Overviews Facial Injuries (American Association of Oral and Maxillofacial Surgeons) Clinical Trials ClinicalTrials.gov: Craniofacial Abnormalities (National Institutes of Health) Coping Common Questions About Craniofacial Conditions (Children's Craniofacial Association) Pictures/Diagrams Atlas of the Body: The Skull (American Medical Association) Specific Conditions/Aspects Coffin Lowry Syndrome (National Institute of Neurological Disorders and Stroke) Craniofacial Syndrome Descriptions (Children's Craniofacial Association) Craniosynostosis and Craniofacial Disorders (American Association of Neurological Surgeons) Crouzon Syndrome (Craniofacial Dysostosis) (Cleft Palate Foundation) Hemifacial Spasm (National Institute of Neurological Disorders and Stroke) Holoprosencephaly (National Institute of Neurological Disorders and Stroke) Information About Pierre Robin Sequence/Complex (Cleft Palate Foundation) Know the Score on Facial Sports Injuries (American Academy of Otolaryngology-Head and Neck Surgery, Inc.)

11. Coffin & Lowry coffin lowry syndrome. SYNDROME DE COFFIN LOWRY. http://alsace.u-strasbg.fr/chimbio/diag/coffin/

COFFIN LOWRY SYNDROME SYNDROME DE COFFIN LOWRY MUTATIONS DATA BASE BIBLIOGRAPHY SUBMISSION of ADDITIONAL MUTATIONS and POLYMORPHISMS Letters and forms- Instructions resquestedfor mutation analysis in patients Clinical description form USEFUL LINKS

12. NINDS Coffin Lowry Information Page coffin lowry syndrome information sheet compiled by the National Institute ofNeurological Disorders and Stroke (NINDS). What is coffin lowry syndrome? http://accessible.ninds.nih.gov/health_and_medical/disorders/coffin_lowry.htm

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about NINDS Coffin Lowry Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page NINDS Coffin Lowry Information Page Reviewed 02-25-2003 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Coffin Lowry Syndrome? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Coffin Lowry Syndrome? Is there any treatment?

13. Health Library - Coffin Lowry Syndrome Saint Luke's Health System eLibrary. coffin lowry syndrome. Synonyms Disorder SubdivisionsGeneral Discussion Resources National Organization for Rare Disorders. http://hvelink.saint-lukes.org/library/healthguide/IllnessConditions/topic.asp?h

14. Coffin Lowry Syndrome : Meddie Health Search ITEMS LINKS coffin lowry syndrome Information sheet compiled by theNational Institute of Neurological Disorders and Stroke (NINDS). http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Co

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Genetic Disorders : Coffin Lowry Syndrome ITEMS: LINKS: Coffin Lowry Syndrome Information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). (Rating: 0.00 Votes: 0) Rate It Coffin-Lowry Syndrome Foundation Information about the organization as well as CLS. Includes FAQs, news, links, parent and foundation contact details. (Rating: 0.00 Votes: 0) Rate It Missouri Southern State College Coffin lowry syndrome, an in depth article by Terry Patterson along with some images. (Rating: 0.00 Votes: 0) Rate It National Library of Medicine Coffin-Lowry syndrome, the synonyms, a summary and major features. (Rating: 0.00 Votes: 0) Rate It Reader Digest Health General information about The Coffin-Lowry Syndrome Foundation. (Rating: 0.00 Votes: 0) Rate It HOME ADD A LINK MODIFY A LINK ... Design © ISC Enterprises Inc.

15. Genetic Disorders : Meddie Health Search Alpha1 Antitrypsin Deficiency (7). Batten (8). Beckwith-Wiedemann Syndrome (7).coffin lowry syndrome (6). Costello Syndrome (3). Craniofrontonasal Dysplasia (4). http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases : Genetic Disorders CATEGORIES: Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Zellweger Syndrome ITEMS: LINKS: Acid Maltase Deficiency A brief summary of AMD along with links and news. (Rating: 0.00 Votes: 0) Rate It Chromosome Deletion Outreach. Provides support and information to families. Includes family stories, a library, FAQs and resources. (Rating: 0.00 Votes: 0) Rate It Dr. Greene's HouseCalls A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. (Rating: 0.00 Votes: 0) Rate It GeneClinics: Medical Genetics Knowledge Base NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. (Rating: 0.00 Votes: 0) Rate It Genetic and Rare Conditions Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. (Rating: 0.00 Votes: 0)

16. Health Library - Coffin Lowry Syndrome coffin lowry syndrome. Synonyms Disorder Subdivisions General DiscussionResources National Organization for Rare Disorders. Important http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

17. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli Partington MW, Mulley JC, Sutherland GR, Thode A, Turner G. A family withthe coffin lowry syndrome revisited localization of CLS to Xp21pter. http://orphanet.infobiogen.fr/data/patho/GB/uk-coffin.html

Coffin-Lowry syndrome (CLS) Scientific editor: Pr Didier Lacombe Creation date: September 2001 Definition Diagnostic criteria Differential diagnosis Prevalence ... References Definition The Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation that was initially and independently described by Coffin et al. [1966] and Lowry et al. [1971] and definitively distinguished by Tentamy et al. Diagnostic criteria The diagnosis is based on clinical examination (see Gilgenkrantz et al. , 1988, Young, 1988). In adult male patients, the disease has a well-defined phenotype and in most cases it can be diagnosed by professionals trained in genetic disorders. Characteristic features are psychomotor retardation, typical facial dysmorphism and progressive skeletal deformations. Large, soft hands with lax skin and tapering fingers, is usually a strong diagnostic feature. However, the clinical presentation of CLS may vary markedly variable in both severity and the expression of uncommonly associated features, occasionally leading to diagnostic difficulties. In addition, the physical characteristics are usually very mild during infancy and CLS may be confused with other syndromes. In most cases mutation analysis is essential to confirm the diagnosis. Differential diagnosis In young male patients in particular, the mild physical features of CLS may lead to the diagnosis of other syndromes, most notably alpha-thalassemia with mental retardation syndrome (ATR-X, MIM # 300032), but also to the diagnosis of fragile X syndrome (MIM 309550), Sotos syndrome (MIM # 117550), Williams syndrome (MIM # 194050) and lysosomal storage disease (Plomp

18. Health Library - Coffin Lowry Syndrome coffin lowry syndrome. Synonyms Disorder Subdivisions General DiscussionResources National Organization for Rare Disorders. Important http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

19. Health Library - Coffin Lowry Syndrome FREE. coffin lowry syndrome. Synonyms Disorder Subdivisions GeneralDiscussion Resources National Organization for Rare Disorders. http://hvlib.integris-health.com/Library/HealthGuide/IllnessConditions/topic.asp

20. NORD - National Organization For Rare Disorders, Inc. coffin lowry syndrome. To purchase fulltext report ($7.50) Copyright 1987,1989, 1995, 1997, 2002 Synonyms of coffin lowry syndrome Coffin Syndrome; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Coffin Lowry

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