1. Robinow Syndrome Foundation Details about the organization as well as the disease. Includes general information,a survey, newsletter and photos. http://www.robinow.org/

We are a "little" group of families reaching out for one another's support on dealing with this medical rarity and how it affects all of our lives This site uses some PDF formatted pages. If your browser does not have a PDF reader, click here - free download. Robinow Syndrome Foundation P.O. Box 1072 Anoka, MN 55303 Ph: 763.434.1152 Fax: 763-434-1152 (must call first) EMail: kmkruger@comcast.net Changes effective 4-8-03

2. Robinow Syndrome The synonyms of robinow syndrome, a summary and a list of major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome562.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Robinow syndrome Synonyms Robinow dwarfism Robinow-Silverman-Smith syndrome acral dysostosis with facial and genital abnormalities fetal face fetal facies syndrome mesomelic dwarfism-small genitalia syndrome Summary The cardinal features consist of characteristic (fetal-like) facies, mesomelic shortening of the forearms, frontal bossing, hypertelorism, wide palpebral fissures, short upturned nose with anteverted nares, long philtrum, receding chin, brachydactyly, hypoplastic genitalia, and a normal karyotype. Intelligence is usually normal but delayed physical and mental development was noted in about 18%. Major Features Head and neck: Macrocephaly, dolichocephaly, bulging forehead, and micrognathia. Ears: Abnormal helices. Eyes: Hypertelorism, wide palpebral fissures, S-shaped lower eyelids, and downslanting palpebral fissures. Nose: Short upturned nose with anteverted nostrils and long philtrum. Mouth and oral structures: V-shaped or tented upper lip, triangular mouth, cleft lip and palate, short palate, crowded teeth, gingival enlargement, bifid or hypoplastic uvula, and ankyloglossia.

3. Robinow Syndrome Foundation robinow syndrome Foundation P.O. Box 1072 Anoka, MN 55303 Ph 763.434.1152 Fax 763434-1152 (must call first) EMail kmkruger@comcast.net http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Robinow Syndrome Foundation In 1995 the “robinow syndrome Foundation” was established, Diagnosis isdifficult because robinow syndrome presents differently in each person afflicted http://www.robinow.org/general.html

General Information Before his death in July of 1997, he had observed, followed and studied a few families. Robinow Syndrome Foundation (noting that we are not in the medical profession and that this is our viewpoints and understandings of this syndrome) , for parents - or those affected by Robinow Syndrome. 1. Medical Manifestations: A. Skeletal System i. Mild to moderate short stature (dwarfism) ii. Short lower arms (mesomelic brachymelia) iii. Small hands with clinodactyly usually of the fifth finger (abnormal lateral or medial bending of one or more fingers or toes) and brachydactyly (abnormally short fingers or toes) iv. Small feet B. Spinal Malformations i. Vertebral segmentation defects ii. Dominant - at most a single butterfly vertebra iii. Recessive - multiple vertebral segmentation defects (always multiple rib anomalies, fusions). iv. Hemivertebrae, vertebral fusions, narrow interpediculate distances most common in the recessive form. v. Possible - spinal cord tethering C. Abnormalities of the Head and Facial Area (craniofacial, fetal face) i. Flat facial profile with larger head (macrocephaly not necessarily associated with hydrocephaly)

5. NORD - National Organization For Rare Disorders, Inc. Offers a general discussion, the synonyms and further resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Robinow Syndr

6. Robinow Syndrome The synonyms of robinow syndrome, a summary and a list of major features. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Robinow Syndrome robinow syndrome is an extremely rare inherited disorder characterized by mildto moderate short stature http://my.webmd.com/hw/raising_a_family/nord696.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Robinow Syndrome 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

8. Robinow Syndrome robinow syndrome is an extremely rare inherited disorder characterized by mild to moderate short stature due to growth delays after birth (postnatal http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Robinow Syndrome National network. Founded 1994. Aim is to locate, educate and support personsaffected by robinow syndrome, http://my.webmd.com/hw/health_guide_atoz/shc29rob.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Robinow Syndrome Foundation Robinow Syndrome 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. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

10. Robinow Syndrome robinow syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Robinow Syndrome robinow syndrome is an extremely rare inherited disorder characterized by mild to moderate short stature http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. Search Jablonski's Syndromes Database More results from www.nlm.nih.gov NORD robinow syndromeNational Organization for Rare Disorders is dedicated to helping people withrare, orphan diseases. Rarediseases.org contains information on the prevention, http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?index=562

13. Robinow Syndrome robinow syndrome links to national and international support groups, clinics with genetic counselors and geneticists http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. Robinow Syndrome robinow syndrome links to national and international support groups, clinics withgenetic counselors and geneticists. http://www.kumc.edu/gec/support/robinow.html

Robinow Syndrome Robinow Syndrome Foundation P.O. Box 1072 Anoka, MN 55303 Ph: 612.434.1152 ( Karla M. Kruger Fax: 612.434.3691 Email: kmkruger@uswest.net Web site: www.robinow.org Syndrome de Robinow France Also See: Robinow Syndrome , National Library of Medicine Robinow Syndrome , Healthwise Robinow syndrom (Fetal face syndrome) , Center for små handicapgrupper National organizations information on genetic conditions or birth defects Information for Siblings and Family Members Children's Craniofacial Association , or contactcca@ccakids.com Craniofacial Foundation of America Little People of America, Inc. Human Growth Foundation ... Congenital Heart Anomalies, Support, Education, and Resources To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised September 30, 2004 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites)

15. ROR2 Mutations Cause Brachydactyly Type B And Robinow Syndrome - Research Group Mundlos. Projects. Publications. Team ROR2 Mutations Cause Brachydactyly Type B and robinow syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

16. Robinow Syndrome robinow syndrome is an extremely rare inherited disorder characterized by mildto moderate short stature due to growth delays after birth (postnatal growth http://www.bchealthguide.org/kbase/nord/nord696.htm

var hwPrint=1;var hwDocHWID="nord696";var hwDocTitle="Robinow Syndrome";var hwRank="1";var hwSectionHWID="nord696-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Robinow Syndrome 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

17. Identification Of A Frameshift Mutation In The Gene TWIST In A Identification of a frameshift mutation in the gene TWIST in a family affected with RobinowSorauf syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. Robinow Syndrome Fetal Face Syndrome Robinow Dwarfism Acral robinow syndrome Fetal Face Syndrome Robinow Dwarfism Acral Dysostosis with Facial and Genital Abnormalities robinow syndrome Dominant Form Robinow http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. OMIM 180700: Robinow Syndrome - HUM-MOLGEN I am doing some research on a rare syndrome known as robinow syndrome. I amwondering if you know of any cases of robinow syndrome in Israel? http://hum-molgen.org/bb/Forum2/HTML/000009.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) OMIM 180700: Robinow Syndrome profile register preferences faq ... next oldest topic Author Topic: OMIM 180700: Robinow Syndrome FS Zollmann Administrator posted 10-26-1999 08:35 AM http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?180700 I am doing some research on a rare syndrome known as Robinow Syndrome. I am wondering if you know of any cases of Robinow syndrome in Israel? I am Also wondering if you are doing any genetic research for this syndrome? I am hoping to find some researchers that are interested in helping to locate a gene for this very diverse syndrome that is found around the world. If you are able to help with any information it would be of great appreciation. Thanks Kim Ortiz Board Member of the Robinow syndrome foundation KimsMTline@aol.com IP: 160.45.191.21 All times are ET (US) next newest topic next oldest topic Administrative Options: Close Topic Archive/Move Delete Topic Hop to: Select a Forum or Archive List of Forums: Biotechnical requests and sources DIAGnostics - Clinical Research (professional requests) Ethical, legal and social implications

20. HUM-MOLGEN Archive: DIAG: 11 Messages Syndrome I am doing some research on a rare syndrome known as robinow syndrome.I Am wondering if you know of any cases of robinow syndrome in Israel? http://hum-molgen.org/mail-archive/1999-Oct/msg00000.html

home genetic news bioinformatics biotechnology ... register for news alert (free) Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 11 messages archive of HUM-MOLGEN mails [Author Prev][Author Next][Thread Prev][Thread Next][ Author Index Topic Index To: HUM-MOLGEN@NIC.SURFNET.NL Subject : DIAG: 11 messages From gambacorti@istitutotumori.mi.it Date : Mon, 25 Oct 1999 19:45:05 +0200 Posted-Date: Mon, 25 Oct 1999 19:45:05 +0200 http://www.ich.ucl.ac.uk/ http://www.tccc.tch.tmc.edu/disease/rts/ http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Index(es): Author Thread home genetic news ... sitemap Mail converted by MHonArc WWW: Kai Garlipp Frank S. Zollmann HUM-MOLGEN

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