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Coffin Lowry Syndrome: more detail

The Official Parent's Sourcebook on Coffin-lowry Syndrome: A Directory for the Internet Age by Icon Health Publications, 2005-01-30
Coffin-Lowry Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20
Coffin-Lowry syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Roger, MD Stevenson, 2005

lists with details

COFFIN-LOWRY SYNDROME: Contact A Family - For Families With Disabled Children:
Contact a Family is a UK charity for families with disabled children. We offerinformation on specific conditions and rare disorders.
http://www.cafamily.org.uk/Direct/c45.html

Extractions: helpful? yes no Coffin-Lowry syndrome (CLS) is a rare inherited disorder of craniofacial and skeletal abnormalities, short stature and learning disability. It was described separately by Dr G S Coffin in 1966 and by Dr R B Lowry in 1971. In 1975 the two descriptions were recognised as the same disorder and named Coffin-Lowry syndrome. CLS affects both males and females. CLS is caused by a defective gene, RSK2, on the X chromosome (Xp22.2-p22.1). It is not clear how mutations (changes) in the DNA structure of the gene lead to the manifestations of the disorder. CLS is characterised by a number of features some of which, to a greater or lesser degree of severity, are present in affected individuals, with females likely to be less severely affected. Manifestations include: significant learning delay (see entry, Learning Disability mild to moderate restricted growth (see entry, Restricted Growth speech problems (see entry
Coffin-Lowry Syndrome Definition - Medical Dictionary Definitions Of Popular Med
Online Medical Dictionary and glossary with medical definitions.
http://www.medterms.com/script/main/art.asp?articlekey=20785
FSP Syndromes
coffinlowry syndrome l Ribosomal Protein S6 kinase, 90 kD, Polypeptide 3 ;Xp22.2-p22.1; External link Image coffin-lowry syndrome Foundation
http://www.neuro.wustl.edu/neuromuscular/spinal/fsp.html
Coffin-Lowry Syndrome - St. Joseph Mercy, Ann Arbor Michigan
coffinlowry syndrome - St. Joseph Mercy Health System Hospitals serving AnnArbor, SE Michigan, Washtenaw County, Livingston County, Wayne County,
http://www.sjmercyhealth.org/13099.cfm

Extractions: @import url(default.css); Online Health Information Back to Health Library Print This Page Email to a Friend The Coffin-Lowry Syndrome Foundation This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. International network. Founded 1991. Serves as a clearinghouse for information on Coffin-Lowry syndrome. Forum for exchanging experiences, advice and information with other CLS families. 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 in order to improve methods of social integration of CLS individuals. Maintains mailing list of families and professionals. Provides newsletter, family support, informational packet.
GeneReviews: Coffin-Lowry Syndrome
Your browser does not support HTML frames so you must view coffinlowry Syndromein a slightly less readable form. Please follow this link to do so.
http://www.genereviews.org/profiles/cls/
Coffin-Lowry (RSK2)
coffinlowry syndrome is an X-linked mental retardation condition caused bymutations in the protein kinase gene, RSK2, localized to Xp22. Males present
http://www.ggc.org/rnadiagnostics/Coffin-Lowry.htm
Fatima E. Abidi, Ph.D.
coffinlowry syndrome During the course of her research, over 20 differentmutations have been identified in the RSK2 gene that causes coffin-lowry
http://www.ggc.org/faculty/abidi.html

Extractions: Who to Contact Site Index Search GGC Website var MenuLinkedBy='AllWebMenus [4]', awmBN='622'; awmAltUrl=''; Dr. Abidis research interests focus on understanding the causes of X-linked mental retardation and birth defects. She has had extensive experience in long-range genome mapping, molecular cloning, mutation analyses and the characterization of gene structure and function. Specific research projects include: Identification of genes responsible for X-Linked mental retardation at chromosome Xp11.4-Xp11.1. Recently Dr. Abidi has identified a two base pair deletion in the TM4SF2 gene that causes non-syndromic mental retardation in MRX58.
Short Description Of Cell Lines. Pathology: Coffin-Lowry Syndrome *303600
Version 4.200205. Short description of cell lines. Pathology coffinLowrysyndrome *303600 OMIM record. - By selecting the cell line name, you will receive
http://www.biotech.ist.unige.it/cldb/pat58.html
Coffin-lowry Syndrome
coffinlowry syndrome. This article submitted by Tom BLOEMEN on 1/7/97. 1 month ago he was diagnosed suffering from the coffin-lowry syndrome.
http://neuro-www.mgh.harvard.edu/neurowebforum/GeneralFeedbackArticles/1.7.9711.

Extractions: Since I am from Belgium, and since this is a very rare birth deficiency, it is very difficult for me to find any information about this syndrome. I would welcome any suggestions, tips, internet-sites, personal Emails etc. in order to provide my cousin with as much info about this disease as possible so that he may give his child the best possible care. So, if you are out there, somewhere in this world, and have any info whatsoever (book titles, etc.)
Coffin-Lowry Syndrome, Eastern Carolina
coffinlowry syndrome - University Health Systems of Eastern Carolina servestarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties in
http://www.uhseast.com/117604.cfm

Extractions: Information about national and local self-help organizations and support groups. This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. International network. Founded 1991. Serves as a clearinghouse for information on Coffin-Lowry syndrome. Forum for exchanging experiences, advice and information with other CLS families. 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 in order to improve methods of social integration of CLS individuals. Maintains mailing list of families and professionals. Provides newsletter, family support, informational packet.
Resources For Genetic Counselors - Coffin-Lowry Syndrome
coffinlowry syndrome Posted on Wednesday, February 09 @ 211100 EST by debi coffin-lowry syndrome Foundation 3045 255th Avenue SE Sammamish, WA 98075
http://www.genesoc.com/counseling2/article45.html
Rare Pediatric Disease Database
WHAT coffinlowry syndrome (CLS) is a genetic disorder characterized by mental WHO coffin-lowry syndrome occurs in about 1 in 40000 to 1 in 50000
http://www.madisonsfoundation.org/content/3/1/display.asp?did=185
Coffin-Lowry Syndrome - Talk Medical
Humanfriendly medical definition of coffin-lowry syndrome.
http://www.talkmedical.com/medical-dictionary/3145/Coffin-Lowry-Syndrome

Extractions: Tell a friend Coffin-Lowry syndrome: An X-linked form of mental retardation in which the affected males have short stature and characteristic face, finger and skeletal abnormalities. Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregular/missing teeth. The hands are large and soft with lax skin and tapering fingers. Skeletal changes include kyphosis/scoliosis and pectus carinatum (pigeon breast) or pectus excavatum (caved-in chest). The syndrome is due to mutation of the gene on the X chromosome that encodes RSK2, a growth-factor regulated protein kinase. Print this page About Talk Medical Help Contact Us ... Terms and Conditions
Coffin-Lowry Syndrome: Clinical And Molecular Features -- Hanauer And Young 39 (
The coffinlowry syndrome (CLS) is a rare X linked disorder in which affectedmales show severe mental retardation with characteristic dysmorphism,
http://jmg.bmjjournals.com/cgi/content/abstract/39/10/705

Extractions: Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Hanauer, A Articles by Young, I D Related Collections Genetics Journal of Medical Genetics
Coffin-Lowry Syndrome: Clinical And Molecular Features -- Hanauer And Young 39 (
http://jmg.bmjjournals.com/cgi/reprint/39/10/705
GEMdatabase - Selected Title
TITLE, coffinlowry syndrome. DESCRIPTION, This review focuses on the and genetic counseling of patients and families with coffin-lowry syndrome.
http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=860
Stimulus-Induced Drop Episodes In Coffin-Lowry Syndrome -- Nelson And Hahn 111 (
coffinlowry syndrome (CLS) is a rare disorder characterized by moderate to Key Words coffin-lowry syndrome drop episodes nonepileptic events
http://pediatrics.aappublications.org/cgi/content/abstract/111/3/e197

Extractions: This Article Full Text Full Text (PDF) Supplemental Videos ... Citation Map Services E-mail this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager PubMed PubMed Citation Articles by Nelson, G. B. Articles by Hahn, J. S. Related Collections PEDIATRICS Vol. 111 No. 3 March 2003, pp. e197-e202 Gregg B. Nelson, MD and Jin S. Hahn, MD Objective. Coffin-Lowry syndrome (CLS) is a rare disorder characterized by moderate to severe mental retardation, facial dysmorphism, tapering digits, and skeletal deformity. Paroxysmal drop attacks occur in patients with CLS, characterized by sudden loss of muscle tone induced by unexpected tactile or auditory stimuli. Our objective is to characterize these attacks better using neurophysiologic studies.
Stimulus-Induced Drop Episodes In Coffin-Lowry Syndrome -- Nelson And Hahn 111 (
In this 16year-old boy with coffin-lowry syndrome, an unexpected pull on the In our second patient with coffin-lowry syndrome, sudden drop episodes
http://pediatrics.aappublications.org/cgi/content/full/111/3/e197/DC1

Extractions: Pediatrics Nelson and Hahn 111 (3): 197. Figure 1. In this 16-year-old boy with Coffin-Lowry syndrome, an unexpected pull on the shoulders by the examiner leads to a sudden loss of tone with an abrupt drop to the ground. He recovers rapidly and there is no loss of consciousness. Figure 2. In our second patient with Coffin-Lowry syndrome, sudden drop episodes began at five years of age. This video clip demonstrates that the drop episodes could be triggered by bumping into the furniture while backing up. Sometimes they were triggered by a gentle pull on his EEG leads. At 13 years of age, episodes were triggered by a loud noise. These episodes had changed in characteristic, and consisted of sudden arm extension and forward lurching of the body. If they occured while he was standing, he would fall to the ground.
Karger Publishers
LateOnset Sensorineural Hearing Loss in coffin-lowry syndrome The coffin-lowrysyndrome (CLS) is a rare clinical entity where patients present with a
http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=
Coffin-Lowry Syndrome.,Ahuja Sanjeev R, Upadhye S, Kulkarni Hemant V, Kulkarni M
Indian Journal of Pediatrics is an open access
http://www.ijppediatricsindia.org/article.asp?issn=0019-5456;year=2003;volume=70

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