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fraser syndrome - rare genetic disorder with underdevelopment of eyes and genitals
Definition for Fraser Syndrome
Fraser syndrome is an autosomal recessive genetic disease, characterized by developmental defects including underdevelopment of the eyes (cryptophthalmos) and the genitals (micropenis, cryptorchidism or clitoromegaly).
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Fraser syndrome is an autosomal recessive genetic disease, characterized by developmental defects including underdevelopment of the eyes (cryptophthalmos) and the genitals (micropenis, cryptorchidism or clitoromegaly). Congenital malformations of the nose, ears,larynx, and renal system as well as mental retardation are manifest occasionally. The Fraser syndrome is also known as: Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome.
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some common symptoms
generalized swelling of body
puffy face
swollen feet and legs
urinating less than normal
some related diagnoses
1 - 7 of
121
diagnoses
cystinuria
hyperoxaluria
cystinosis
primary hyperoxaluria
angioedema
drugs and toxins
cardiac arrhythmias
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do i have 'Fraser Syndrome'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'fraser syndrome'
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Molecular Genetic Studies
Fraser Syndrome and Molecular Genetic Studies
Ultrasonography kidneys ureter bladder
Fraser Syndrome and Ultrasonography kidneys ureter bladder
Comprehensive eye exam
Fraser Syndrome and Comprehensive eye exam
therapeutic procedures for 'Fraser 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 Fraser Syndrome:
therapeutic procedure search results for 'fraser syndrome'
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Fornix reconstruction
Fraser Syndrome and Fornix reconstruction
medications search results for 'fraser syndrome'
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web search results for fraser syndrome
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- Fraser Syndrome
Fraser syndrome - Wikipedia, the free encyclopedia
Fraser syndrome with renal agenesis in two consanguineous Turkish families" ... Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria" ...
http://en.wikipedia.org/wiki/Fraser_syndrome
en.wikipedia.org
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Fraser syndrome 1 (FRAS1)
Human protein-coding gene FRAS1. Represented by 161 ESTs from 92 cDNA libraries. ... Homo sapiens Fraser syndrome 1, mRNA (cDNA clone IMAGE:3028776), partial cds. PA ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=369448
www.ncbi.nlm.nih.gov
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Fraser syndrome 1 homolog (human) (Fras1)
Mouse protein-coding gene Fras1. Represented by 134 ESTs from 64 cDNA libraries. ... Mus musculus Fraser syndrome 1 homolog (human), mRNA (cDNA clone IMAGE: ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=291120
www.ncbi.nlm.nih.gov
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Fraser syndrome 1 homolog (human) (Fras1)
Norway rat protein-coding gene Fras1. Represented by 10 ESTs from 8 cDNA libraries. ... PREDICTED: Rattus norvegicus Fraser syndrome 1 homolog (human) (predicted) ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=23357
www.ncbi.nlm.nih.gov
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Fraser syndrome with partial anomalous pulmonary venous connection.
Fraser syndrome with partial anomalous pulmonary venous connection. Thapa R, ... Fraser syndrome is characterized by cryptophthalmos, cutaneous syndactyly, ...
http://www.ncbi.nlm.nih.gov/pubmed/18599943?dopt=Abstract
www.ncbi.nlm.nih.gov
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Fraser syndrome.
2005 Jul-Oct;24(4-5):223-38. Fetal Pediatr Pathol. 2008;27(2):99-104. Fraser syndrome. Opitz JM. Publication Types: Comment. Letter. Mesh Terms: ...
http://www.ncbi.nlm.nih.gov/pubmed/19065328?ordinalpos=7&ito...
www.ncbi.nlm.nih.gov
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Fraser Syndrome - Yahoo! Health
Important It is possible that the main title of the report Fraser Syndrome is not the name you expected. Please check the synonyms listing to find the alternate ...
http://health.yahoo.com/children-genetic/fraser-syndrome/hea...
health.yahoo.com
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Orphanet: Fraser syndrome
The portal for rare diseases and orphan drugs ... Fraser syndrome is a rare clinical entity including as main characteristics ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2052
www.orpha.net
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Branchiootorenal syndrome - Genetics Home Reference
... people with branchiootorenal syndrome, abnormal development of ... Melnick-Fraser syndrome. See How are genetic conditions and genes named? in the Handbook. ...
http://ghr.nlm.nih.gov/condition=branchiootorenalsyndrome
ghr.nlm.nih.gov
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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 ... Melnick-Fraser Syndrome. Melnick-Needles ...
http://www.webmd.com/a-to-z-guides/health-topics/ma-me.htm
www.webmd.com
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Talk:Fraser syndrome - Wikipedia, the free encyclopedia
Talk:Fraser syndrome. From Wikipedia, the free encyclopedia. Jump to: navigation, search. WikiProject Medicine / Medical genetics (Rated Stub-Class) ...
http://en.wikipedia.org/wiki/Talk:Fraser_syndrome
en.wikipedia.org
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Branchio Oto Renal Syndrome - Yahoo! Health
... the main title of the report Branchio Oto Renal Syndrome is not the name you expected. Please check the ... Syndrome. Melnick-Fraser Syndrome. Disorder ...
http://health.yahoo.com/hearing-resources/branchio-oto-renal...
health.yahoo.com
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Fraser - Wikipedia, the free encyclopedia
Fraser, Australian Capital Territory, a suburb in the Canberra ... Fraser syndrome. Fraser Herald, title of a Canadian Heraldic Authority officer of arms ...
http://en.wikipedia.org/wiki/Fraser
en.wikipedia.org
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Frasier syndrome - Wikipedia, the free encyclopedia
For the anatomical abnormality observed in 1965, see Fraser syndrome. Frasier syndrome ... Frasier syndrome is caused by defective alternative splicing of WT1 ...
http://en.wikipedia.org/wiki/Frasier_syndrome
en.wikipedia.org
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Encyclopedia F-Fz on Yahoo! Health
Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, ... Syndrome. Fragile-X Syndrome. Fraser Syndrome ...
http://health.yahoo.com/ency/f/
health.yahoo.com
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Impossible syndrome - Wikipedia, the free encyclopedia
Impossible Syndrome, or ... Fraser FC, Jequier S, Chen MF (1989) ... Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) ...
http://en.wikipedia.org/wiki/Impossible_syndrome
en.wikipedia.org
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Ear, nose, and throat - Genetics Home Reference
Angiomatosis retinae see von Hippel-Lindau syndrome ... BDLS see Cornelia de Lange syndrome ... Melnick-Fraser syndrome see branchiootorenal syndrome ...
http://www.ghr.nlm.nih.gov/ghr/conditionsByCategory/show/earnoseandthroat
www.ghr.nlm.nih.gov
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Manitoba Oculotrichoanal Syndrome
of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nature Genet ... Fraser syndrome and cryptophthalmos: Review of the diagnostic criteria and ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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PMID 15838507
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. 520-5 Fraser syndrome is a recessive, multisystem disorder presenting with ...
http://www.ncbi.nlm.nih.gov/pubmed/15838507
www.ncbi.nlm.nih.gov
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Fountain syndrome - Wikipedia, the free encyclopedia
Fountain syndrome is an autosomal recessive congenital disorder characterized by ... Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) ...
http://en.wikipedia.org/wiki/Fountain_syndrome
en.wikipedia.org
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PMID 16880404
... Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. ... in basement membrane deposition was also observed in another Fraser syndrome ...
http://www.ncbi.nlm.nih.gov/pubmed/16880404
www.ncbi.nlm.nih.gov
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George R. Fraser - Wikipedia, the free encyclopedia
Find sources: "George R. Fraser" ? news, books, scholar (April 2009) ... "The genetics of Fraser syndrome and the blebs mouse mutants -- Smyth and ...
http://en.wikipedia.org/wiki/George_R._Fraser
en.wikipedia.org
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Holt-Oram syndrome - Wikipedia, the free encyclopedia
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) ... Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) ...
http://en.wikipedia.org/wiki/Holt-Oram_syndrome
en.wikipedia.org
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Manitoba Oculotrichoanal Syndrome -- GeneReviews -- NCBI Bookshelf
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 ... Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mota
www.ncbi.nlm.nih.gov
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PMID 16244325
The genetics of Fraser syndrome and the blebs mouse mutants. R269-74 Fraser syndrome is a recessive multisystem disorder characterized by ...
http://www.ncbi.nlm.nih.gov/pubmed/16244325
www.ncbi.nlm.nih.gov
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Branchio-oto-renal syndrome - Wikipedia, the free encyclopedia
Branchiootorenal syndrome from Gene Reviews. v ? d ? e ... Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) ...
http://en.wikipedia.org/wiki/Branchio-oto-renal_syndrome
en.wikipedia.org
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PMID 18000968
A Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. ... Peter J PJ Fraser Syndrome Collaboration Group Hennekam Raoul ...
http://www.ncbi.nlm.nih.gov/pubmed/18000968
www.ncbi.nlm.nih.gov
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blebs - NextBio
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. ... The genetics of Fraser syndrome and the blebs mouse mutants. Ian ...
http://www.nextbio.com/b/home/home.nb?q=blebs
www.nextbio.com
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Nail-patella syndrome - Wikipedia, the free encyclopedia
The Nail-Patella syndrome is inherited via autosomal dominancy that is linked to ... Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) ...
http://en.wikipedia.org/wiki/Nail-patella_syndrome
en.wikipedia.org
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18671281 2008 08 28 2008 09 15 1552-4833 146A 17 2008 Sep 1 Am. J. Med ...
... Molecular study of 33 families with Fraser syndrome new data and mutation review. 2252-7 Fraser syndrome (FS) is an autosomal recessive malformation disorder ...
http://www.ncbi.nlm.nih.gov/pubmed/18671281?ordinalpos=3&ito...
www.ncbi.nlm.nih.gov
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Pfeiffer syndrome - Wikipedia, the free encyclopedia
Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of ... Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) ...
http://en.wikipedia.org/wiki/Pfeiffer_syndrome
en.wikipedia.org
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Seckel syndrome - Wikipedia, the free encyclopedia
The Seckel syndrome or microcephalic primordial dwarfism is a congenital ... Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) ...
http://en.wikipedia.org/wiki/Seckel_syndrome
en.wikipedia.org
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Smith-Lemli-Opitz syndrome - Wikipedia, the free encyclopedia
Mutations in the DHCR7 gene cause Smith-Lemli-Opitz syndrome. ... Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) ...
http://en.wikipedia.org/wiki/Smith-Lemli-Opitz_syndrome
en.wikipedia.org
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Branchiootorenal Syndrome -- GeneReviews -- NCBI Bookshelf
BOR syndrome is known eponymously as Melnick-Fraser syndrome. ... these data, Fraser et al (1980) estimated the prevalence of BOR syndrome at 1:40, ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bor
www.ncbi.nlm.nih.gov
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PMID 2389805
Fraser syndrome with renal agenesis in two consanguineous Turkish families. 477-9 We report on 3 girls and one boy from 2 sibships with Fraser syndrome and renal ...
http://www.ncbi.nlm.nih.gov/pubmed/2389805
www.ncbi.nlm.nih.gov
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219000
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219000
www.ncbi.nlm.nih.gov
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Apert syndrome - Wikipedia, the free encyclopedia
Apert Syndrome information from Seattle Children's Hospital Craniofacial Center ... Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) ...
http://en.wikipedia.org/wiki/Apert_syndrome
en.wikipedia.org
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Dubowitz syndrome - Wikipedia, the free encyclopedia
Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, ... Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) ...
http://en.wikipedia.org/wiki/Dubowitz_syndrome
en.wikipedia.org
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Keutel syndrome - Wikipedia, the free encyclopedia
Keutel syndrome is a rare autosomal recessive genetic disorder characterized by ... Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) ...
http://en.wikipedia.org/wiki/Keutel_syndrome
en.wikipedia.org
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Fras1, a basement membrane-associated protein mutated in Fraser ...
... protein mutated in Fraser syndrome, mediates both the initiation ... is mutated in some individuals with Fraser syndrome (FS) and the encoded protein ...
http://www.ncbi.nlm.nih.gov/pubmed/18787044?ordinalpos=2&ito...
www.ncbi.nlm.nih.gov
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Noonan syndrome - Wikipedia, the free encyclopedia
Noonan Syndrome (NS) is a relatively common congenital genetic condition which ... Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) ...
http://en.wikipedia.org/wiki/Noonan_syndrome
en.wikipedia.org
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Saethre-Chotzen syndrome - Wikipedia, the free encyclopedia
Saethre-Chotzen syndrome, also known as acrocephalosyndactyly type 3 (ACS III) ... Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) ...
http://en.wikipedia.org/wiki/Saethre-Chotzen_syndrome
en.wikipedia.org
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Zellweger syndrome - Wikipedia, the free encyclopedia
Online 'Mendelian Inheritance in Man' (OMIM) Zellweger syndrome; ZS -214100 ... Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) ...
http://en.wikipedia.org/wiki/Zellweger_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 ... Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) ...
http://en.wikipedia.org/wiki/Zori_Stalker_Williams_syndrome
en.wikipedia.org
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MEDLINE
... To date, Fraser syndrome (FS) and Ablepharon macrostomia syndrome (AMS) have ... on the concurrence of AMS-like and Fraser phenotypes in a Brazilian family. ...
http://www.ncbi.nlm.nih.gov/pubmed/17163535?ordinalpos=3&ito...
www.ncbi.nlm.nih.gov
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Kidneys and urinary system - Genetics Home Reference
... genital abnormalities see Robinow syndrome ... Angiomatosis retinae see von Hippel-Lindau syndrome ... Melnick-Fraser syndrome see branchiootorenal syndrome ...
http://ghr.nlm.nih.gov/conditionCategory=kidneysandurinarysystem
ghr.nlm.nih.gov
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Aarskog-Scott syndrome - Wikipedia, the free encyclopedia
Females may have mild manifestations of the syndrome. ... Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) ...
http://en.wikipedia.org/wiki/Aarskog-Scott_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 ... Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) ...
http://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome
en.wikipedia.org
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Carpenter syndrome - Wikipedia, the free encyclopedia
Carpenter Syndrome belongs to a group of rare genetic disorders known as ... Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) ...
http://en.wikipedia.org/wiki/Carpenter_syndrome
en.wikipedia.org
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UniSTS
UniSTS is a marker information resources with links to mapping, Map Viewer, GenBank, ... similar to Fraser syndrome 1 isoform 1. Position: UniGene. Mmu.8880 ...
http://www.ncbi.nlm.nih.gov/genome/sts/sts.cgi?uid=65710
www.ncbi.nlm.nih.gov
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