21. Robinow Syndrome Articles, Support Groups, And Resources robinow syndrome articles, support groups, and resources for patients from MedHelp International (www.medhelp.org) http://www.medhelp.org/HealthTopics/Robinow_Syndrome.html

[Health Topics A-Z] A B C D ... Z Robinow Syndrome Support Groups: Robinow Syndrome Foundation Med Help International Search Medical Forums / Message Boards ... Site Map Revised: 9/7/2005

22. Detail Sourcebook Listing Title Robinow Syndrome Foundation , Aim is to locate, educate andsupport persons affected by robinow syndrome, (also known as fetal face......Title, robinow syndrome Foundation. http://www.medhelp.org/amshc/amshc552.htm

Detail Sourcebook Listing Title: Robinow Syndrome Foundation Description: Aim is to locate, educate and support persons affected by Robinow syndrome, (also known as fetal face syndrome) a very rare genetic dwarfing syndrome. Support and newsletter, bi-annual conventions, family networking. Scope: National network Founded: Address: c/o Karla Kruger P.O. Box 1072 Anoka, Minnesota, 55303 United States Telephone: (763)434-1152 (Karla Kruger) Fax: (763)434-1152 (must call first) Email: kmkruger@comcast.net Web Address: http://www.robinow.org This information has been generously provided by The American Self Help Clearinghouse and hosted by Med Help International . Please send corrections/updates to admin@selfhelpgroups.org Updated: 02/2005

23. Site Sur Le Syndrome De Robinow Translate this page Ce site est consacré au syndrome de Robinow, une maladie génétique rare. robinow syndrome Foundation PO Box 1072 Anoka, MN 55303 Ph 612.434.1152 http://nikomanue.ifrance.com/

Syndrome de Robinow (Quoi de neuf ?) Le syndrome deRobinow du Syndrome de Robinow La page de liens ... de traduction Bonjour, accueillant enfants valides et porteurs de handicap ? cliquez sur : une souris verte La "Robinow syndrome Foundation" a mis en ligne son site web !!!! Robinow Syndrome Foundation P.O. Box 1072 Anoka, MN 55303 Ph: 612.434.1152 Fax: 612.434.3691 EMail: kmkruger@uswest.net Adresse : www.robinow.org nikomanue@ifrance.com

24. Les Liens Syndrome De Robinow Translate this page robinow syndrome Foundation PO Box 1072 Anoka, MN 55303 Ph 612.434.1152 Fax612.434.3691. ou bien . robinow syndrome Foundation 15955 UPLANDER STREET NW http://nikomanue.ifrance.com/liens.html

Quelques liens THE ROBINOW (FETAL FACE) SYNDROME ( adresse : http://baserv.uci.kun.nl/~mvanstee/robinow.html ) Son email est : m.vansteensel@antrg.azn.nl http://web.archive.org/web/20020605162358/http://baserv.uci.kun.nl/~mvanstee/robinow.html Rare Genetic Diseases In Children: Gateway Kiosk Support Group Forum : Robinow Syndrome ... (adresse : http://mcrcr2.med.nyu.edu/murphp01/robsupt.htm) Le "Gateway Kiosk" est un site qui référence les ressources disponibles sur différents syndromes, dont le syndrome de Robinow. Vous y trouverez une présentation de M Vansteensel ainsi que de la page présentée précédemment, une présentation de la Fondation sur le Syndrome de Robinow (voir plus bas), ainsi qu'un "forum" avec des messages et questions de personnes ou familles concernées par le syndrome. Fondation sur le syndrome de Robinow http://www.robinow.org Robinow Syndrome Foundation P.O. Box 1072 Anoka, MN 55303 Ph: 612.434.1152

25. Robinow Syndrome -- Patton And Afzal 39 (5): 305 -- Journal Of Medical Genetics Recently, the gene for the autosomal recessive robinow syndrome has been mapped2 This feature in robinow syndrome differs from true exophthalmos as the http://jmg.bmjjournals.com/cgi/content/full/39/5/305

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Abstract 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 Patton, M A Articles by Afzal, A R Related Collections Genetics Journal of Medical Genetics Journal of Medical Genetics REVIEW ARTICLE Robinow syndrome M A Patton and A R Afzal Department of Medical Genetics, St George's Hospital Medical School, Cranmer Terrace, London SW17 0RE, UK Correspondence to: Professor M A Patton, Department of Medical Genetics, St George's Hospital Medical School, Cranmer Terrace, London SW17 0RE, UK; ABSTRACT In 1969, Robinow and colleagues described a syndrome of mesomelic shortening, hemivertebrae, genital hypoplasia, and "fetal facies".

26. Robinow Syndrome -- Patton And Afzal 39 (5): 305 -- Journal Of Medical Genetics In 1969, Robinow and colleagues described a syndrome of mesomelic shortening,hemivertebrae, Keywords robinow syndrome; fetal facies; ROR2 gene http://jmg.bmjjournals.com/cgi/content/abstract/39/5/305

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) 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 Patton, M A Articles by Afzal, A R Related Collections Genetics Journal of Medical Genetics Journal of Medical Genetics REVIEW ARTICLE Robinow syndrome M A Patton and A R Afzal Department of Medical Genetics, St George's Hospital Medical School, Cranmer Terrace, London SW17 0RE, UK Correspondence to: Professor M A Patton, Department of Medical Genetics, St George's Hospital Medical School, Cranmer Terrace, London SW17 0RE, UK; ABSTRACT In 1969, Robinow and colleagues described a syndrome of mesomelic shortening, hemivertebrae, genital hypoplasia, and "fetal facies".

27. Hill Health Topics A-Z - Robinow Syndrome The facial features of infants with robinow syndrome resemble those of an Genital abnormalities associated with robinow syndrome may include an http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord696&SE

28. Robinow Syndrome. Hosalkar HS, Gerardi J, Shaw BA J Postgrad Med J Postgrad Med, Online version this peerreviewed periodical, a publication ofthe Staff Society of Seth GS Medical College and KEM Hospital, India, http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2002;volume=48;issue=1

29. Robinow Syndrome.,Hosalkar HS, Gerardi J, Shaw BA: J Postgrad Med Indexed peerreviewed biomedical periodical of Staff Society of Seth GS MedicalCollege and KEM Hospital, India, with free access to full-text since 1990. http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2002;volume=48;issue=1

30. Robinow Syndrome, Eastern Carolina robinow syndrome University Health Systems of Eastern Carolina serves tarboro,ahoskie, edento, winsor, maxhead, dear county, outebanks counties in http://www.uhseast.com/117959.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Self-Help Resources Information about national and local self-help organizations and support groups. Robinow Syndrome 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. Robinow Syndrome Foundation National network. Founded 1994. Aim is to locate, educate and support persons affected by Robinow syndrome, (also known as fetal face syndrome) a very rare, genetic dwarfing syndrome. Online support and newsletter, bi annual conventions, family networking. WRITE: Robinow Syndrome Fdn. c/o Karla Kruger P.O. Box 1072 Anoka, MN 55303 CALL: 763-434-1152 Karla Kruger FAX: 763-434-3691 E-MAIL: kmkruger@comcast.net WEBSITE: http://www.robinow.org VERIFIED: 10/11/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information.

31. Robinow Syndrome Synonyms, Eastern Carolina robinow syndrome Synonyms University Health Systems of Eastern Carolina servestarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties http://www.uhseast.com/114113.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Robinow Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Robinow Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Fetal Face Syndrome Robinow Dwarfism Acral Dysostosis with Facial and Genital Abnormalities Disorder Subdivisions Robinow Syndrome Dominant Form Robinow Syndrome Recessive Form (COVESDEM Syndrome) General Discussion In some cases, Robinow syndrome has autosomal dominant inheritance; in other cases, the disorder may have an autosomal recessive mode of inheritance. According to the medical literature, individuals with the recessive form of Robinow syndrome may have more numerous abnormalities of the ribs and the bones of the spinal column (vertebrae) than in the dominant form of the disorder. In addition, the symptoms and physical findings associated with the recessive form tend to be more severe. Resources Human Growth Foundation 997 Glen Cove Avenue Glen Head, NY 11545

32. Rare Diseases Terms - Office Of Rare Diseases Robinow dwarfism; robinow syndrome recessive form. Acral dysostosis with facialand genital Information about robinow syndrome is available from http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=5704

33. Rare Diseases Terms - Office Of Rare Diseases Autosomal recessive Robinowlike syndrome. robinow syndrome, autosomal recessive Information about Robinow like syndrome is available from http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=312

34. Robinow Syndrome - St. Joseph Mercy, Ann Arbor Michigan robinow syndrome St. Joseph Mercy Health System Hospitals serving Ann Arbor,SE Michigan, Washtenaw County, Livingston County, Wayne County, http://www.sjmercyhealth.org/15357.cfm

@import url(default.css); Online Health Information Health Information - Support Groups Back to Health Library Print This Page Email to a Friend Self Help Clearinghouse Robinow Syndrome Robinow 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. Robinow Syndrome Foundation National network. Founded 1994. Aim is to locate, educate and support persons affected by Robinow syndrome, (also known as fetal face syndrome) a very rare, genetic dwarfing syndrome. Online support and newsletter, bi annual conventions, family networking. WRITE: Robinow Syndrome Fdn. c/o Karla Kruger P.O. Box 1072 Anoka, MN 55303 CALL: 763-434-1152 Karla Kruger FAX: 763-434-3691 E-MAIL: kmkruger@comcast.net WEBSITE: http://www.robinow.org

35. ROR2 Mutations Cause Brachydactyly Type B And Robinow Syndrome - Research Group ROR2 Mutations Cause Brachydactyly Type B and robinow syndrome Homozygous BDBresembles robinow syndrome but has a more severe limb phenotype http://www.molgen.mpg.de/research/mundlos/projects_ror2.html

home contact search Research Group Mundlos Projects Research Group Mundlos Projects Publications Team ROR2 Mutations Cause Brachydactyly Type B and Robinow Syndrome (MIM*602337) belongs to a family of receptor tyrosine kinases (RTKs), characterized by a cytoplasmic tyrosine kinase (TK) domain, a distally located serine-threonine-rich and proline-rich domains and distinct extracellular domains. is essential for normal chondrocyte differentiation and mice with inactivated Ror2 alleles, exhibit a severe skeletal phenotype with foreshortened and misshapen bones and abnormal growth plate morphology. mutations have been identified in dominant brachydactyly type B (BDB) and recessive Robinow syndrome. BDB is caused by heterozygous nonsense or frameshift mutations located distally and proximally of the TK domain. These mutations lead to truncation of the intracellular serine-threonine-rich, and proline-rich domains, or of the entire intracellular portion of the receptor. In contrast missense or nonsense mutations leading to amino acid exchange or truncation of extracellular domains of , truncation within the TK domain, or selective inactivation of TK activity lead to autosomal recessive Robinow syndrome.

36. Projects - Research Group Mundlos Receptor tyrosine kinase Ror2 is mutated in robinow syndrome and robinow syndromeis a rare skeletal dysplasia with mesomelic shortening of the limbs, http://www.molgen.mpg.de/research/mundlos/projects.html

home contact search Research Group Mundlos Research Group Mundlos Projects Publications Team Current projects Function of Cbfa1 (runx2) in osteoblast and chondrocyte differentiation Receptor tyrosine kinase Ror2 is mutated in Robinow syndrome and brachydactyly type B - molecular pathology and normal function Hoxd genes in limb development and cartilage differentiation Identification of genes regulated by Cbfa1 ... Function of Cbfa1 (runx2) in osteoblast and chondrocyte differentiation Contact person/scientist: Sigmar Stricker Receptor tyrosine kinase Ror2 is mutated in Robinow syndrome and brachydactyly type B - molecular pathology and normal function Brachydactyly is shortening of the digits due to abnormal development of the phalanges and/or metacarpals. It may occur as an isolated trait or as part of complex malformation syndromes. According to their patterns of skeletal involvement heritable brachydactylies have been classified into the subtypes A to E (Bell 1951). Autosomal dominant brachydactyly type B (BDB; MIM113000) is readily distinguished from other brachydactylies by the characteristic shortening/hypoplasia of the distal phalanges, the occurrences of nail dysplasia, hypoplasia of middle phalanges, and variable degrees of distal and proximal symphalangism. Broad thumbs with or without distal duplication/clefts and syndactyly can be additional findings. Robinow syndrome is a rare skeletal dysplasia with mesomelic shortening of the limbs, small stature, vertebral malformations and hypogenitalism.

37. Robinow Syndrome Fetal Face Syndrome Mesomelia Robinow Dwarfism robinow syndrome. Note! RobinowSyndrome may be confused with Aarskog Syndrome http://ibis-birthdefects.org/start/robin.htm

Tips for printing Robinow Syndrome About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Notice! For more about parental and patient support resources explore Support Groups . For general sources of information see Professional Associations and Information Sources Acral Dysostosis With Facial And Genital Abnormalities Fetal Face Syndrome Mesomelia Robinow Dwarfism Robinow Syndrome Note! Robinow Syndrome may be confused with Aarskog Syndrome Special Resources Robinow Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals [S] Support Group [Danish] [Dutch] [Ukrainian] [*][P] Robinow Syndrome (from OMIM) Robinow et al (1969) described a short stature syndrome in 6 generations of a family but with no instance of male to male transmission - Interorbital distance was increased and the teeth were malaligned - Achondroplasia was suggested; however, the spine and pelvic radiologic findings were nearly normal - Similarities to the Aarskog Scott syndrome (305400) were noteworthy - Friedman ((1985) described the distinctive umbilical changes of Aarskog syndrome, Rieger syndrome (180500), and Robinow syndrome. [*][P] Robinow Syndrome, Recessive Form

38. Robinow Syndrome robinow syndrome. Acral dysostosis with facial and genital abnormalities.Fetal face syndrome. Robinow dwarfism. robinow syndrome robinow syndrome http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=783

39. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/ robinow syndrome Foundation Details about the organization as well as the disease . National Library of Medicine - The synonyms of robinow syndrome, http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Genetic Disorders : Robinow Syndrome Subtopics See Also: Health: Conditions and Diseases: Rare Disorders Search Google: Robinow Syndrome News Books Links ... UF Scientist Finds Unexpected Link Between Cat And Human AIDS Viruses (September 9, 2005) full story Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005) Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2. This work was supported, in part, by the Rett Syndrome Research Foundation (RSRF).

40. RedNova News - Science - Robinow Syndrome RedNova Health Linkrobinow syndromeSynonyms Fetal Face SyndromeRobinow DwarfismAcralDysostosis with Facial and Genital AbnormalitiesMore from the http://www.rednova.com/news/science/4429/robinow_syndrome/

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