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カテゴリ 先天性遺伝子オレゴン 周波数 珍しい (U.S.)

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関連医師の種類 family practitioner internist genetics specialist 郵便番号 して下さいローカル その結果、コンピュータを見つけるのに役立つ場合は医師のアドバイスに生成される. MEDgleを完了させるかは、プロバイダとの専門医師やクレームの正確な提案では特定のタイプをお勧めしていません.

robinow症候群 - 短い四肢小人症のタイプです に定義されています Robinow症候群 Robinow syndrome is an extremely rare genetic disorder. It is characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. よりたくさんの Robinow syndrome is an extremely rare genetic disorder. It is characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described by human geneticist Meinhard Robinow, along with physicians Frederic N. Silverman and Hugo D. Smith, in the American Journal of Diseases of Children in 1969. By 2002, over 100 cases had been documented and introduced into medical literature. less いくつかの共通の現象 男性の異常な性器 異常棘がある 指の変形 低身長 いくつかの関連診断 1 - 7 of 12 診断 胎児性アルコール症候群 ターナー症候群 arthritis 関節リウマチ 脊髄腫瘍 筋萎縮性側索硬化症 脊髄空洞症   より 私はありますか？ 'Robinow症候群'? 加えて、以下の診断テストをされるとの診断に役立つかどうかを確認する必要があります: 診断テストの検索結果を得るために 'robinow症候群' 1 - 5 of 7 診断テスト 歯科用X線 Robinow症候群 および 歯科用X線 心エコー図 Robinow症候群 および 心エコー図 超音波検査は、尿管膀胱腎臓 Robinow症候群 および 超音波検査は、尿管膀胱腎臓 X線四肢 Robinow症候群 および X線四肢 X線 Robinow症候群 および X線 分子遺伝学的研究 Robinow症候群 および 分子遺伝学的研究 出生前超音波 Ultrasound on the fetus before birth Robinow症候群 および 出生前超音波 詳細については、ログインしてください、ログイン情報（クリックしてログインする）無料です 治療の手順を 'Robinow症候群'? 常に患者さんの健康管理や介護のプロバイダによって決定されるべき疾患の治療. 下記の手順または関連する治療薬の一覧です Robinow Syndrome: 治療の手順の検索結果 'robinow症候群' 1 - 1 of 1 治療の手順 ランキングは、コンピュータが生成されます. あなたの健康管理プロバイダを参照してください. 整形外科ケア Robinow症候群 および 整形外科ケア 薬の検索結果 'robinow症候群' ランキングは、コンピュータが生成されます. あなたの健康管理プロバイダを参照してください. ウェブ検索結果調査のための robinow症候群 ウェブ（すべて）  |  治療  |  薬  |  テスト  |  調査  |  ダイエット その結果 1 - 50 - Acral dysostosis with facial and genital abnormalities Robinow syndrome - Wikipedia, the free encyclopedia Robinow syndrome is an extremely rare genetic disorder characterized by short ... Male-to-male transmission of Robinow's syndrome. ... http://en.wikipedia.org/wiki/Robinow_syndrome   en.wikipedia.org - summary Robinow syndrome - Genetics Home Reference Autosomal recessive Robinow syndrome is characterized by skeletal abnormalities ... Gene Review: ROR2-Related Robinow Syndrome ... http://ghr.nlm.nih.gov/condition=robinowsyndrome   ghr.nlm.nih.gov - summary ROR2-Related Robinow Syndrome -- GeneReviews -- NCBI Bookshelf ROR2-related Robinow syndrome is caused by mutations in both intracellular and ... Other names by which Robinow syndrome has been known in the past: ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rob   www.ncbi.nlm.nih.gov - summary Orphanet: Robinow syndrome The portal for rare ... Robinow syndrome. Orpha number. ORPHA97360. Prevalence of rare diseases ... Robinow syndrome is a combination of ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97360   www.orpha.net - summary Robinow syndrome - References - Genetics Home Reference ... Jeffery S. Recessive Robinow syndrome, allelic to dominant ... Related Robinow Syndrome ... dominant and recessive variants of Robinow syndrome. ... http://ghr.nlm.nih.gov/condition=robinowsyndrome/show/References   ghr.nlm.nih.gov - summary ROR2-Related Robinow Syndrome ROR2-related Robinow syndrome is a severe skeletal malformation ... affected individual has a 25% chance of being affected with Robinow syndrome, a 50% chance ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Congenital heart disease and Robinow syndrome: coincidence or an ... ... report on a girl with Robinow syndrome and pulmonary atresia with ventricular ... Seven cases of Robinow syndrome with congenital heart defect (CHD) have now been ... http://www.ncbi.nlm.nih.gov/pubmed/2260599   www.ncbi.nlm.nih.gov - summary Robinow syndrome - OMIM - Genetic disorder catalog - Genetics Home ... ... information in the Genetics Home Reference condition summary on Robinow syndrome. OMIM topic: Robinow syndrome, autosomal dominant ... http://ghr.nlm.nih.gov/condition=robinowsyndrome/show/OMIM   ghr.nlm.nih.gov - summary Robinow syndrome, vaginal atresia, hematocolpos, and extra middle finger. A 14-year-old girl with Robinow syndrome was admitted with severe abdominal pain ... abnormalities are common in Robinow syndrome, but this kind of malformation ... http://www.ncbi.nlm.nih.gov/pubmed/9738864   www.ncbi.nlm.nih.gov - summary Robinow syndrome - Patient support - For patients and families ... Genetic Conditions > Robinow syndrome > Patient support - For patients ... information in the Genetics Home Reference condition summary on Robinow syndrome. ... http://ghr.nlm.nih.gov/condition=robinowsyndrome/show/Patient+support   ghr.nlm.nih.gov - summary Robinow syndrome: phenotypic variability in a family with a novel ... Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. ... Robinow syndrome comprises dysmorphic facial features, short stature, ... http://www.ncbi.nlm.nih.gov/pubmed/18831060?ordinalpos=2&ito...   www.ncbi.nlm.nih.gov - summary Robinow syndrome - Educational resources - Information pages - Genetics ... Genetic Conditions > Robinow syndrome > Educational resources ... information in the Genetics Home Reference condition summary on Robinow syndrome. ... http://ghr.nlm.nih.gov/condition=robinowsyndrome/show/Educational+resources   ghr.nlm.nih.gov - summary Robinow syndrome: report of two patients and review of literature. Robinow syndrome: report of two patients and review of literature. Butler MG, Wadlington WB. We report two patients with Robinow or fetal face syndrome. ... http://www.ncbi.nlm.nih.gov/pubmed/3549067   www.ncbi.nlm.nih.gov - summary Robinow syndrome - MedlinePlus - Health information - Genetics Home ... Genetic Conditions > Robinow syndrome > MedlinePlus - Health information ... information in the Genetics Home Reference condition summary on Robinow syndrome. ... http://ghr.nlm.nih.gov/condition=robinowsyndrome/show/MedlinePlus   ghr.nlm.nih.gov - summary Robinow syndrome - Related Gene(s) - Genetics Home Reference Genetic Conditions > Robinow syndrome > Related Gene(s) ... Lister Hill National Center for Biomedical Communications. U.S. National Library of Medicine, ... http://ghr.nlm.nih.gov/condition=robinowsyndrome/show/Related+Gene(s)   ghr.nlm.nih.gov - summary Robinow Syndrome - Yahoo! Health 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 ... http://health.yahoo.com/children-genetic/robinow-syndrome/he...   health.yahoo.com - summary Robinow Syndrome Important It is possible that the main title of the report Robinow Syndrome is not the name you expected. ... http://www.webmd.com/children/Robinow-Syndrome-10627   www.webmd.com - summary National Library of Medicine The synonyms of Robinow syndrome, a summary and a list of major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome562.html   www.nlm.nih.gov - summary Talk:Robinow syndrome - Wikipedia, the free encyclopedia Talk:Robinow syndrome. From Wikipedia, the free encyclopedia. Jump to: navigation, search. Robinow syndrome has been listed as one of the Natural sciences good ... http://en.wikipedia.org/wiki/Talk:Robinow_syndrome   en.wikipedia.org - summary WebMD Health A-Z - Find reliable health and medical information on ... Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable ... Syndrome. Robinow Dwarfism. Robinow Syndrome ... http://www.webmd.com/a-to-z-guides/health-topics/rk-ro.htm   www.webmd.com - summary Orphanet: Robinow like syndrome The portal for rare ... Robinow-like syndrome. Orpha number. ORPHA3105. Prevalence of rare ... Robinow-like syndrome is characterized by the ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3105   www.orpha.net - summary Fountain syndrome - Wikipedia, the free encyclopedia Fountain syndrome is an autosomal recessive congenital disorder ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ... http://en.wikipedia.org/wiki/Fountain_syndrome   en.wikipedia.org - summary A Baxová - NextBio ... II Pfeiffer syndrome PFM POR retardation Robinow syndrome SCN5A serum skull sperm villus ... mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome. ... http://www.nextbio.com/b/literature/literature.nb?author=A+Baxov%C3%A1   www.nextbio.com - summary Holt-Oram syndrome - Wikipedia, the free encyclopedia Holt-Oram syndrome is caused by mutations in TBX5, a member of the ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ... http://en.wikipedia.org/wiki/Holt-Oram_syndrome   en.wikipedia.org - summary Ablepharon macrostomia syndrome - Wikipedia, the free encyclopedia Ablepharon macrostomia syndrome (AMS) is an extremely rare autosomal recessive ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ... http://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome   en.wikipedia.org - summary MedlinePlus: Facial Injuries and Disorders Crouzon Syndrome (Craniofacial Dysostosis)(Cleft Palate Foundation) ... Genetics Home Reference: Robinow syndrome(National Library of Medicine) ... http://www.nlm.nih.gov/medlineplus/facialinjuriesanddisorders.html   www.nlm.nih.gov - summary Orphanet: Robinow syndrome, dominant form The portal for rare diseases and orphan drugs ... Robinow syndrome, dominant form. Orpha number. ORPHA3107. Prevalence of rare diseases ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3107   www.orpha.net - summary Reproductive system - Genetics Home Reference Acral dysostosis with facial and genital abnormalities see Robinow syndrome ... Fetal face syndrome see Robinow syndrome. Fibrocystic Disease of Pancreas see ... http://ghr.nlm.nih.gov/conditionCategory=reproductivesystem   ghr.nlm.nih.gov - summary Apert syndrome - Wikipedia, the free encyclopedia Apert Syndrome information from Seattle Children's Hospital Craniofacial Center ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ... http://en.wikipedia.org/wiki/Apert_syndrome   en.wikipedia.org - summary ROR2 - receptor tyrosine kinase-like orphan receptor 2 - Genetics Home ... Robinow syndrome - caused by mutations in the ROR2 gene ... Genetics: ROR2 Mutations Cause Brachydactyly Type B and Robinow Syndrome ... http://ghr.nlm.nih.gov/gene=ror2   ghr.nlm.nih.gov - summary Keutel syndrome - Wikipedia, the free encyclopedia Keutel syndrome is a rare autosomal recessive genetic disorder characterized by ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ... http://en.wikipedia.org/wiki/Keutel_syndrome   en.wikipedia.org - summary PMID 10932187 423-6 Robinow syndrome is a short-limbed dwarfism characterized by abnormal ... The recessive form of Robinow syndrome (RRS; OMIM 268310), particularly frequent ... http://www.ncbi.nlm.nih.gov/pubmed/10932187   www.ncbi.nlm.nih.gov - summary Saethre-Chotzen syndrome - Wikipedia, the free encyclopedia Saethre-Chotzen syndrome, also known as acrocephalosyndactyly type 3 (ACS III) ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ... http://en.wikipedia.org/wiki/Saethre-Chotzen_syndrome   en.wikipedia.org - summary Bones, muscles, and connective tissues - Genetics Home Reference Acral dysostosis with facial and genital abnormalities see Robinow syndrome ... mesomelic dwarfism-small genitalia syndrome see Robinow syndrome ... http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/bonesmu...   ghr.nlm.nih.gov - summary 268310 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268310   www.ncbi.nlm.nih.gov - summary Vici syndrome - Wikipedia, the free encyclopedia Vici syndrome is a rare autosomal recessive congenital disorder ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ... http://en.wikipedia.org/wiki/Vici_syndrome   en.wikipedia.org - summary Search Results - Genetics Home Reference Robinow syndrome. Condition summary. Found in name or synonym: ... Found in name or synonym: Peters anomaly-short limb dwarfism syndrome. Related genes: B3GALTL ... http://ghr.nlm.nih.gov/ghr/search?query="Dwarfism"&show=conditions   ghr.nlm.nih.gov - summary Zimmerman-Laband syndrome - Wikipedia, the free encyclopedia Zimmermann-Laband Syndrome - What does ZLS stand for? ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ... http://en.wikipedia.org/wiki/Zimmerman-Laband_syndrome   en.wikipedia.org - summary Zori Stalker Williams syndrome - Wikipedia, the free encyclopedia Zori Stalker Williams syndrome at NIH's Office of Rare Diseases ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ... http://en.wikipedia.org/wiki/Zori_Stalker_Williams_syndrome   en.wikipedia.org - summary Char Syndrome -- GeneReviews -- NCBI Bookshelf Char syndrome is inherited in an autosomal dominant manner. ... Robinow syndrome. Ellis van Creveld syndrome. Management. Evaluations Following Initial Diagnosis ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=char   www.ncbi.nlm.nih.gov - summary Carpenter syndrome - Wikipedia, the free encyclopedia Carpenter Syndrome belongs to a group of rare genetic disorders known as ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ... http://en.wikipedia.org/wiki/Carpenter_syndrome   en.wikipedia.org - summary ROR2 - Related Condition(s) - Genetics Home Reference Robinow syndrome. other disorders. Reviewed: March 2008. Published: April 17, 2009. Lister Hill National Center for Biomedical Communications ... http://ghr.nlm.nih.gov/gene=ror2/show/Related+Condition(s)   ghr.nlm.nih.gov - summary Möbius syndrome - Wikipedia, the free encyclopedia Möbius syndrome (also spelled Moebius) is an extremely rare congenital ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ... http://en.wikipedia.org/wiki/M%C3%B6bius_syndrome   en.wikipedia.org - summary Orphanet: Robinow Sorauf syndrome The portal for rare diseases and orphan drugs ... Robinow-Sorauf syndrome is characterized by craniosynostosis, plagiocephaly, ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3106   www.orpha.net - summary Overgrowth syndrome - Wikipedia, the free encyclopedia Overgrowth syndrome is a group of genetic disorders in which there is an ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ... http://en.wikipedia.org/wiki/Overgrowth_syndrome   en.wikipedia.org - summary Saethre-Chotzen syndrome - Genetics Home Reference Most people with Saethre-Chotzen syndrome have prematurely fused skull bones ... Robinow-Sorauf syndrome is a condition with features similar to those of Saethre ... http://ghr.nlm.nih.gov/condition=saethrechotzensyndrome   ghr.nlm.nih.gov - summary Seckel syndrome - Wikipedia, the free encyclopedia The Seckel syndrome or microcephalic primordial dwarfism is a congenital ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ... http://en.wikipedia.org/wiki/Seckel_syndrome   en.wikipedia.org - summary Urban-Rogers-Meyer syndrome - Wikipedia, the free encyclopedia Familial syndrome of mental retardation, short stature, contractures of the ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ... http://en.wikipedia.org/wiki/Urban-Rogers-Meyer_syndrome   en.wikipedia.org - summary ROR2 - References - Genetics Home Reference Novel Robinow syndrome causing mutations in the proximal region of the frizzled ... Gene Review: ROR2-Related Robinow Syndrome ... http://ghr.nlm.nih.gov/gene=ror2/show/References   ghr.nlm.nih.gov - summary Search Results - Genetics Home Reference Beare-Stevenson cutis gyrata syndrome. Condition summary ... Robinow syndrome. Condition summary. Found in link title: Facial Injuries and Disorders ... http://ghr.nlm.nih.gov/ghr/search?query="Facial+Injuries+and...   ghr.nlm.nih.gov - summary もっと表示 1  2