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robinow syndrome - type of short limb dwarfism
Definition for Robinow Syndrome
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.
more
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.
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some common symptoms
abnormal genitals in males
abnormal spine
deformity of finger(s)
short stature
some related diagnoses
1 - 7 of
12
diagnoses
fetal alcohol syndrome
Turner's Syndrome
arthritis
rheumatoid arthritis
spinal cord tumors
amyotrophic lateral sclerosis
syringomyelia
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do i have 'Robinow Syndrome'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'robinow syndrome'
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Dental x-rays
Robinow Syndrome and Dental x-rays
ECHOcardiogram
Robinow Syndrome and ECHOcardiogram
Ultrasonography kidneys ureter bladder
Robinow Syndrome and Ultrasonography kidneys ureter bladder
X-ray extremities
Robinow Syndrome and X-ray extremities
X-rays
Robinow Syndrome and X-rays
Molecular Genetic Studies
Robinow Syndrome and Molecular Genetic Studies
Prenatal Ultrasound
Ultrasound on the fetus before birth
Robinow Syndrome and Prenatal Ultrasound
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therapeutic procedures for 'Robinow Syndrome'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Robinow Syndrome:
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Orthopedic surgical care
Robinow Syndrome and Orthopedic surgical care
medications search results for 'robinow syndrome'
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web search results for robinow syndrome
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- Robinow Syndrome
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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268310
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268310
www.ncbi.nlm.nih.gov
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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