1. Robinow Syndrome Foundation robinow syndrome Foundation PO Box 1072 Anoka, MN 55303 Ph 763.434.1152 Fax 763434-1152 (must call first) EMail kmkruger@comcast.net. 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 robinow syndrome links to national and international support groups, clinics with genetic counselors and geneticists robinow syndrome. robinow syndrome Foundation. P.O robinow syndrome, National Library of Medicine. robinow syndrome, Healthwise. Robinow syndrom 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 March 1, 2001 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)

4. Robinow Syndrome Foundation In 1995 the “robinow syndrome Foundation” was established, to continue locating and documenting new families addressing their individual characteristics 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. J Med Genet -- Abstracts: Patton And Afzal 39 (5): 305 it is not known at present whether the autosomal dominantform of robinow syndrome is also caused by mutations in ROR2. Keywords robinow syndrome; fetal facies; ROR2 gene http://jmg.bmjjournals.com/cgi/content/abstract/39/5/305

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles found in: J Med Genet PubMed PubMed Citation Search PubMed for articles by: Patton, M A Afzal, A R Alert me when: new articles cite this article Download to Citation Manager Collections under which this article appears: 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". Over 100 cases have now been reported and we have reviewed the current knowledge of the clinical and genetic features of the syndrome. The gene for the autosomal recessive form was identified as the gene on chromosome 9q22. ROR2 is a receptor tyrosine

7. Search Jablonski's Syndromes Database http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Robinow syndrome&field=na

8. Robinow Syndrome robinow syndrome Important It is possible that the main title of the report robinow syndrome is not the name you expected. Please 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 Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators 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

9. Robinow Syndrome robinow syndrome Foundation. robinow syndrome robinow syndrome Foundation National network. Founded 1994. Aim is to locate, educate 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 Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic 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 dwarfing syndrome. Online support and newsletter. 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@qwest.net WEBSITE: http://www.robinow.org VERIFIED: 3/17/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; 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 and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

10. Robinow Syndrome robinow syndrome. About I.B.I.S. Home. Search Topics. Search all contents. Standards " MedWord. Birth Defects. Gallery Music. Books - Old Maps - Etchings. Notice! For more about parental and patient support resources explore Support Groups. new medical syndrome - Named it "Fetal Face" Syndrome - The "robinow syndrome Foundation" (United States http://www.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

11. Robinow Syndrome - Information / Diagnosis / Treatment / Prevention home genetic disorders robinow syndrome robinow syndrome. NORD robinow syndrome Offers a general discussion, the synonyms and further resources. http://www.healthcyclopedia.com/genetic-disorders/robinow-syndrome.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... genetic disorders > robinow syndrome Robinow Syndrome Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News Web Directory: Related Topics: Rare Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "Robinow's syndrome" Health News: Search millions of published articles for news on Robinow Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: National Library of Medicine The synonyms of Robinow syndrome, a summary and a list of major features. NORD: Robinow Syndrome Offers a general discussion, the synonyms and further resources. Robinow Syndrome Foundation Details about the organization as well as the disease. Includes general information, a survey, newsletter and photos.

12. Robinow Syndrome,Fetal Face Syndrome,Robinow Dwarfism,Acral Dysostosis With Faci robinow syndrome,Fetal Face Syndrome,Robinow Dwarfism,Acral Dysostosis with Facial and Genital Abnormalities,robinow syndrome Dominant Form,robinow syndrome http://www.icomm.ca/geneinfo/robinow.htm

Robinow Syndrome,Fetal Face Syndrome,Robinow Dwarfism,Acral Dysostosis with Facial and Genital Abnormalities,Robinow Syndrome Dominant Form,Robinow Syndrome Recessive Form,COVESDEM Syndrome,Robinow Syndrome,Fetal Face Syndrome,Robinow Dwarfism,Acral Dysostosis with Facial and Genital Abnormalities,Robinow Syndrome Dominant Form,Robinow Syndrome Recessive Form,COVESDEM Syndrome For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Robinow Syndrome also known as: Fetal Face Syndrome Robinow Dwarfism Acral Dysostosis with Facial and Genital Abnormalities Disorder Subdivisions Robinow Syndrome Dominant Form Robinow Syndrome Recessive Form (COVESDEM Syndrome) (as defined by the National Organization for Rare Disorders Robinow syndrome is an extremely rare inherited disorder characterized by mild to moderate short stature due to growth delays after birth (postnatal growth retardation); distinctive abnormalities of the head and facial (craniofacial) area; additional skeletal malformations; and/or genital abnormalities. The facial features of infants with Robinow syndrome resemble those of an eight-week-old fetus; within the medical literature, this condition is often referred to as "fetal face."

13. Definitions Of Genetic Disorders-R Dysplasias ed.htm Robin Anomalad piererob.htm Robin Sequence piererob.htm Robin Syndrome piererob.htm Robinow Dwarfism robinow.htm robinow syndrome robinow.htm http://www.icomm.ca/geneinfo/def-r.htm

For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Definitions of Genetic Disorders beginning with the letter R Click on the link next to the disorder to view its definition. ch4r.htm ch6r.htm ch14r.htm r 18 ch18r.htm ch21r.htm ch22r.htm Rachischisis Posterior spinbif.htm Radial Aplasia-Amegakaryocytic Thrombocytopenia tar.htm Radial Aplasia-Thrombocytopenia Syndrome tar.htm Radial Nerve Palsy perneurop.htm Radicular Neuropathy Sensory hsn.htm Radicular Neuropathy Sensory acrodystr.htm Radicular Neuropathy Sensory Recessive hsn.htm Radicular Dentin Dysplasia dentin.htm Rapid-onset Dystonia-parkinsonism dystonia.htm Rapp-Hodgkin Syndrome rapphodkins.htm Rapp-Hodgkin (hypohidrotic) Ectodermal Dysplasia syndrome rapphodkins.htm Rapp-Hodgkin Hypohidrotic Ectodermal Dysplasias ed.htm

14. Health Library - robinow syndrome. Synonyms Disorder Subdivisions General Discussion Resources robinow syndrome Dominant Form; robinow syndrome Recessive Form (COVESDEM Syndrome). http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

15. Robinow Syndrome Articles, Support Groups, And Resources robinow syndrome articles, support groups, and resources for patients from Med Help International (www.medhelp.org). robinow syndrome. 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 Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 6/2/2004

16. Robinow Syndrome Foundation Aim is to locate, educate and support persons affected by robinow syndrome, (also......Title robinow syndrome Foundation. http://www.medhelp.org/amshc/amshc552.htm

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. Online support and newsletter, bi-annual conventions, family networking. Scope: National network Founded: Address: c/o Karla Kruger P.O. Box 1072 Anoka, , 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: 05/2004

17. Robinow Syndrome Aim is to locate, educate and support persons affected by robinow syndrome, (also known as fetal face syndrome) a very rare dwarfing syndrome. robinow syndrome. http://www.bchealthguide.org/kbase/shc/shc29rob.htm

document.write(''); var hwPrint=1; var hwDocHWID="shc29rob"; var hwDocTitle="Robinow Syndrome"; var hwRank="1"; var hwSectionHWID="shc29rob"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="SHC"; Self Help Clearinghouse 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 dwarfing syndrome. Online support and newsletter. 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@qwest.net WEBSITE: http://www.robinow.org VERIFIED: 3/17/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in the American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

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

document.write(''); var hwPrint=1; var hwDocHWID="nord696"; var hwDocTitle="Robinow Syndrome"; var hwRank="1"; var hwSectionHWID="nord696"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Robinow Syndrome Important It is possible that the main title of the report 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) Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Achondroplasia Aarskog syndrome Albright hereditary osteodystrophy Omodysplasia 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. Symptoms Robinow syndrome is an extremely rare inherited disorder characterized by short stature; characteristic facial features; skeletal malformations; and/or genital abnormalities. The range and severity of symptoms associated with Robinow syndrome vary from case to case.

19. Disease Directory : Genetic Disorders : Robinow Syndrome Diseases Genetic Disorders robinow syndrome. 166 The gene for autosomal recessive robinow syndrome is located robinow syndrome Foundation. http://www.diseasedirectory.net/Genetic_Disorders/Robinow_Syndrome/default.aspx

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Genetic Disorders : Robinow Syndrome 166: The gene for autosomal recessive Robinow syndrome is located ... - Program Nr: 166 The gene for autosomal recessive Robinow syndrome is located in 9q. H. Van Bokhoven 1 , E. van Beusekom 1 , J. Celli Conditions and Diseases - Robinow Syndrome Top Links - Robinow Syndrome Web Site Links. Robinow Syndrome Foundation - Details about the organization as well as the disease. Includes general Geometry.Net - Health_Conditions: Robinow Syndrome - 1. Robinow Syndrome The synonyms of robinow syndrome, a summary and a list of major features. http syndrome. robinow syndrome Foundation. Geometry.Net - Health_Conditions: Robinow Syndrome - lists with details ( new 1/2003 ). Robinow Syndrome The synonyms of robinow syndrome, a summary and a list of major features. robinow syndrome Foundation. Health Library - Robinow Syndrome - Robinow Syndrome. Synonyms Disorder Subdivisions General Discussion Resources Robinow Syndrome Dominant Form; Robinow Syndrome Recessive Form (COVESDEM Syndrome). Health Library - Robinow Syndrome - support groups. Robinow Syndrome. Self Help Clearinghouse. Robinow Syndrome Foundation. National network. Founded 1994

20. Disease Directory : Robinow Syndrome robinow syndrome....... Diseases Genetic Disorders robinow syndrome robinow syndrome. Directory Listing. Title robinow syndrome http://www.diseasedirectory.net/detailed/26128.aspx

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Robinow Syndrome : Robinow Syndrome Directory Listing Title: Robinow Syndrome Description: Robinow Syndrome. Disorder Subdivisions. Robinow Syndrome Dominant Form; Robinow Syndrome Recessive Form (COVESDEM Syndrome). General Discussion. Date Added: 2/17/2004 10:16:41 AM URL: http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord696

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