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what is 'Shprintzen Syndrome - rare genetic disease with heart defects and abnormal facial features '?
Definition for Shprintzen Syndrome
http://health.yahoo.com/ency/healthwise/_nord853
do i have 'Shprintzen Syndrome'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'Shprintzen Syndrome'
1 - 5 of
20
diagnostic tests
Chromosomal analysis
Shprintzen Syndrome and Chromosomal analysis
Fluorescent in situ hybridization (FISH)
Shprintzen Syndrome and Fluorescent in situ hybridization (FISH)
T cell counts
Shprintzen Syndrome and T cell counts
T-cell function
Shprintzen Syndrome and T-cell function
T-cell marker studies
Shprintzen Syndrome and T-cell marker studies
Chest X-ray
Radiological technique to image the chest
Shprintzen Syndrome and Chest X-ray
ECHOcardiogram
Shprintzen Syndrome and ECHOcardiogram
EKG
Electrocardiogram
Shprintzen Syndrome and EKG
Hearing test
standard technique of representing hearing loss
Shprintzen Syndrome and Hearing test
Serum calcium
Shprintzen Syndrome and Serum calcium
Ultrasonography kidneys ureter bladder
Shprintzen Syndrome and Ultrasonography kidneys ureter bladder
Brain MRI
Shprintzen Syndrome and Brain MRI
CD3 T cells
Shprintzen Syndrome and CD3 T cells
CD4 T cells
Shprintzen Syndrome and CD4 T cells
CD8 T cells
Shprintzen Syndrome and CD8 T cells
Developmental testing
Shprintzen Syndrome and Developmental testing
PE tube insertion
Shprintzen Syndrome and PE tube insertion
T-cell responses to mitogens
Shprintzen Syndrome and T-cell responses to mitogens
T-cell subsets CD3, CD4, CD8
Shprintzen Syndrome and T-cell subsets CD3, CD4, CD8
speech reception threshold (SRT)
Shprintzen Syndrome and speech reception threshold (SRT)
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therapeutic procedures for 'Shprintzen 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 Shprintzen Syndrome:
therapeutic procedure search results for 'Shprintzen Syndrome'
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therapeutic procedures
rankings are computer generated. please consult your health care provider.
Cardiac surgery
Shprintzen Syndrome and Cardiac surgery
Repair of cleft palate
Shprintzen Syndrome and Repair of cleft palate
Pharyngeal flap surgery
Shprintzen Syndrome and Pharyngeal flap surgery
PE tube insertion
Shprintzen Syndrome and PE tube insertion
Special Education
Shprintzen Syndrome and Special Education
Speech Therapy
Shprintzen Syndrome and Speech Therapy
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medications search results for 'Shprintzen Syndrome'
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medications
rankings are computer generated. please consult your health care provider.
bactrim
Shprintzen Syndrome and bactrim
web search results for 'Shprintzen Syndrome'?
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Results
1 - 50
- Shprintzen Syndrome
[Shprintzen syndrome]
1: Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):250-1. [Shprintzen syndrome] ... Syndrome. Substances: Proteins. UFD1L protein, human. PMID: 11057217 [PubMed ...
http://www.ncbi.nlm.nih.gov/pubmed/11057217
www.ncbi.nlm.nih.gov
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summary
Shprintzen-Goldberg Syndrome -- GeneReviews -- NCBI Bookshelf
Shprintzen-Goldberg syndrome (SGS) is characterized by craniosynostosis ... The mode of inheritance of Shprintzen-Goldberg syndrome is unknown. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sgs
www.ncbi.nlm.nih.gov
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summary
22q11.2 deletion syndrome - Genetics Home Reference
The features of this syndrome vary widely, even among affected members of the ... Shprintzen syndrome. VCFS. Velocardiofacial syndrome. Velo-cardio-facial syndrome ...
http://ghr.nlm.nih.gov/condition=22q112deletionsyndrome
ghr.nlm.nih.gov
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summary
Immune system - Genetics Home Reference
AIRE deficiency see autoimmune polyglandular syndrome, type 1 ... familial cold autoinflammatory syndrome ... Shprintzen syndrome see 22q11.2 deletion syndrome ...
http://www.ghr.nlm.nih.gov/ghr/conditionsByCategory/show/immunesystem
www.ghr.nlm.nih.gov
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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 ... Shprintzen Syndrome. Shprintzen Syndrome, ...
http://www.webmd.com/a-to-z-guides/health-topics/sf-sj.htm
www.webmd.com
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summary
Otitis Media (Chronic): Middle Ear and Tympanic Membrane Disorders ...
... abnormalities (eg, Down syndrome, cri du chat syndrome, cleft ... cleft palate, velocardiofacial syndrome [Shprintzen syndrome]) have an increased ...
http://www.merck.com/mmpe/print/sec08/ch087/ch087f.html
www.merck.com
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medical terms, dictionary and encyclopedia
Shprintzen syndrome. shRNA. Shulman's syndrome (Eosinophilic fasciitis) Shunt ... Syndrome, Shprintzen. Syndrome, Shulman's (Eosinophilic fasciitis) Syndrome, sicca ...
http://www.medicinenet.com/htmlalphaidx/dict_S.htm
www.medicinenet.com
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summary
CRKL - NextBio
CRKL: v-CRK avian sarcoma virus CT10-homolog-like contains one SH2 ... Shprintzen syndrome. CID 5140203. Adrenal gland. DiGeorge syndrome. Ipratropium Bromide ...
http://www.nextbio.com/b/home/home.nb?q=CRKL
www.nextbio.com
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summary
Digestive system - Genetics Home Reference
Alström syndrome. Anderson disease see ... arteriohepatic dysplasia (AHD) see Alagille syndrome ... Shprintzen syndrome see 22q11.2 deletion syndrome ...
http://ghr.nlm.nih.gov/conditionCategory=digestivesystem
ghr.nlm.nih.gov
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summary
Ear, nose, and throat - Genetics Home Reference
Angiomatosis retinae see von Hippel-Lindau syndrome ... BDLS see Cornelia de Lange syndrome ... Shprintzen syndrome see 22q11.2 deletion syndrome. Sotos syndrome ...
http://www.ghr.nlm.nih.gov/ghr/conditionsByCategory/show/earnoseandthroat
www.ghr.nlm.nih.gov
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22q11.2 deletion syndrome - Wikipedia, the free encyclopedia
The features of this syndrome vary widely, even among members ... a b c Robin NH, Shprintzen RJ (2005). " Defining the clinical spectrum of deletion 22q11.2" ...
http://en.wikipedia.org/wiki/22q11.2_deletion_syndrome
en.wikipedia.org
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Kidneys and urinary system - Genetics Home Reference
Acral dysostosis with facial and genital abnormalities see Robinow syndrome ... Shprintzen syndrome see 22q11.2 deletion syndrome ...
http://ghr.nlm.nih.gov/conditionCategory=kidneysandurinarysystem
ghr.nlm.nih.gov
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22q11.2 Deletion Syndrome -- GeneReviews -- NCBI Bookshelf
... Syndrome (DGS), Velocardiofacial Syndrome (VCFS), Shprintzen Syndrome, ... VCFS, also called Shprintzen syndrome, was originally described as the ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gr_22q11deletion
www.ncbi.nlm.nih.gov
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summary
TBX1 - NextBio
TBX1: This gene is a member of a phylogenetically conserved ... Shprintzen syndrome. EDA gene. Deltoid. DiGeorge syndrome. Cilengitide. Quadriceps femoris ...
http://www.nextbio.com/b/home/home.nb?q=TBX1
www.nextbio.com
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summary
Mouth and teeth - Genetics Home Reference
... see Ellis-van Creveld syndrome. Christ-Siemens-Touraine Syndrome see hypohidrotic ectodermal dysplasia ... Shprintzen syndrome see 22q11.2 deletion syndrome ...
http://ghr.nlm.nih.gov/conditionCategory=mouthandteeth
ghr.nlm.nih.gov
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summary
PMID 8111380
... deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. ... deletions of the DiGeorge syndrome critical region (DGCR) at ...
http://www.ncbi.nlm.nih.gov/pubmed/8111380
www.ncbi.nlm.nih.gov
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summary
Heart and circulation - Genetics Home Reference
arteriohepatic dysplasia (AHD) see Alagille syndrome ... BDLS see Cornelia de Lange syndrome ... Shprintzen syndrome see 22q11.2 deletion syndrome ...
http://www.ghr.nlm.nih.gov/ghr/conditionsByCategory/show/heartandcirculation
www.ghr.nlm.nih.gov
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summary
Dmel_CG9224(SOG) - NextBio
Shprintzen syndrome. Tridihexethyl. Epididymis. DiGeorge syndrome. Proxyphylline. Endometrium. Streptococcal infection. Dmel_CG3936 gene ...
http://www.nextbio.com/b/home/home.nb?q=SOG
www.nextbio.com
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summary
Hirschsprung Disease Overview -- GeneReviews -- NCBI Bookshelf
Goldberg-Shprintzen syndrome. ... Goldberg-Shprintzen syndrome. Craniofacial, microcephaly, MR, PMG. AR. 10q22.1 / KIAA1279 Others? ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hirschsprung-ov
www.ncbi.nlm.nih.gov
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summary
PMID 15883926
... 3-q22.1 for Goldberg-Shprintzen syndrome (GOSHS) in a consanguineous Moroccan family. ... feature might also be considered a key feature of the syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/15883926
www.ncbi.nlm.nih.gov
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summary
Brain and nervous system - Genetics Home Reference
agenesis of corpus callosum with neuronopathy see Andermann syndrome ... Shprintzen syndrome see 22q11.2 deletion syndrome. sialic acid storage disease ...
http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/brainandnervoussystem
ghr.nlm.nih.gov
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summary
Isolation of a gene encoding an integral membrane protein from the ...
... DiGeorge syndrome, Shprintzen syndrome (velocardiofacial syndrome) and congenital heart disease. ... region of deletion overlap for DiGeorge syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/7655455
www.ncbi.nlm.nih.gov
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FBN1 - fibrillin 1 - Genetics Home Reference
Although Marfan syndrome is the most common type 1 fibrillinopathy, FBN1 ... an early-onset disorder known as Shprintzen-Goldberg craniosynostosis syndrome. ...
http://ghr.nlm.nih.gov/gene=fbn1
ghr.nlm.nih.gov
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summary
Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.
... R, Jurecic V, Morrow B, Carlson C, Kucherlapati RS, Shprintzen RJ, Baldini A. ... Velo-cardio-facial (VCFS) or Shprintzen syndrome is associated with deletions in ...
http://www.ncbi.nlm.nih.gov/pubmed/7677167
www.ncbi.nlm.nih.gov
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Robinow syndrome - Wikipedia, the free encyclopedia
Robinow syndrome, vaginal atresia, hematocolpos, ... Shprintzen RJ, Goldberg RB, Saenger P, Sidoti EJ (1982). " Male-to-male transmission of Robinow's syndrome. ...
http://en.wikipedia.org/wiki/Robinow_syndrome
en.wikipedia.org
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PubMed
... delineation of a new syndrome and identification of a locus at ... appear to have a separate disorder from Goldberg-Shprintzen syndrome, for which ...
http://www.ncbi.nlm.nih.gov/pubmed/9719364
www.ncbi.nlm.nih.gov
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22q11.2 deletion syndrome - References - Genetics Home Reference
Antshel KM, Kates WR, Roizen N, Fremont W, Shprintzen RJ. 22q11.2 deletion syndrome: genetics, neuroanatomy and cognitive/behavioral features keywords. ...
http://ghr.nlm.nih.gov/condition=22q112deletionsyndrome/show/References
ghr.nlm.nih.gov
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Velocardiofacial Syndrome - Yahoo! Health
... possible that the main title of the report Velocardiofacial Syndrome is not the name you expected. Please check the ... Shprintzen Syndrome. Conotruncal ...
http://health.yahoo.com/children-resources/velocardiofacial-...
health.yahoo.com
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Bones, muscles, and connective tissues - Genetics Home Reference
Acrocephalosyndactyly (Apert) see Apert syndrome. acrocephalosyndactyly III see Saethre-Chotzen syndrome ... Shprintzen syndrome see 22q11.2 deletion syndrome ...
http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/bonesmu...
ghr.nlm.nih.gov
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-- GeneReviews -- NCBI Bookshelf
... DiGeorge Syndrome (DGS), Velocardiofacial Syndrome (VCFS), Shprintzen Syndrome, ... Alagille Syndrome Nancy B Spinner, Ian D Krantz, and Binita M Kamath Initial ...
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowTOC&rid=gene.TOC
www.ncbi.nlm.nih.gov
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Mowat-Wilson Syndrome -- GeneReviews -- NCBI Bookshelf
Mowat-Wilson syndrome is typically the result of a de novo dominant mutation. ... Goldberg-Shprintzen syndrome, characterized by Hirschsprung disease, ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mws
www.ncbi.nlm.nih.gov
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182212
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182212
www.ncbi.nlm.nih.gov
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188400
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188400
www.ncbi.nlm.nih.gov
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FBN1 - NextBio
FBN1: This gene encodes a member of the fibrillin family. ... syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. ...
http://www.nextbio.com/b/home/home.nb?q=FBN1
www.nextbio.com
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FBN1 - Gene Reviews - Clinical summary - Genetics Home Reference
Gene Review: Marfan Syndrome. Gene Review: Shprintzen-Goldberg Syndrome. Gene Review: Weill-Marchesani Syndrome. Reviewed: October 2008. Published: April 10, 2009 ...
http://ghr.nlm.nih.gov/gene=fbn1/show/Gene+Reviews
ghr.nlm.nih.gov
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Mowat-Wilson Syndrome
Mowat-Wilson syndrome (MWS) is characterized by distinctive ... Goldberg-Shprintzen syndrome, characterized by Hirschsprung disease, ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Velocardiofacial (Shprintzen) syndrome: an important syndrome for the ...
... therapy aspects of 38 cases of velocardiofacial syndrome ... Syndrome. Velopharyngeal Insufficiency/complications. Velopharyngeal Insufficiency/pathology ...
http://www.ncbi.nlm.nih.gov/pubmed/1956057?dopt=Abstract
www.ncbi.nlm.nih.gov
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List of diseases (S) - Wikipedia, the free encyclopedia
Sackey Sakati Aur syndrome. Sacral agenesis. Sacral defect anterior sacral ... Shprintzen Golberg craniosynostosis. Shprintzen syndrome. Shwachman syndrome ...
http://en.wikipedia.org/wiki/List_of_diseases_(S)
en.wikipedia.org
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FBN1 - OMIM - Genetic disorder catalog - Genetics Home Reference
OMIM: MASS syndrome. OMIM: Shprintzen-Goldberg craniosynostosis syndrome. Reviewed: October 2008 ... Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/gene=fbn1/show/OMIM
ghr.nlm.nih.gov
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Search Results - Genetics Home Reference
... name or synonym: Craniosynostosis-radial aplasia syndrome. Related genes: RECQL4 ... Found: ...disorder known as Shprintzen-Goldberg craniosynostosis syndrome. ...
http://ghr.nlm.nih.gov/search?query="Craniosynostoses"
ghr.nlm.nih.gov
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Velo-cardio-facial syndrome.
Velo-cardio-facial syndrome. Shprintzen RJ, Higgins AM, Antshel K, Fremont W, Roizen N, Kates W. ... Velo-cardio-facial syndrome has an expansive phenotype, a ...
http://www.ncbi.nlm.nih.gov/pubmed/16282778
www.ncbi.nlm.nih.gov
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HIRA - Wikipedia, the free encyclopedia
... deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. ... of TUPLE1/HIRA: a gene implicated in DiGeorge syndrome.". Mamm. ...
http://en.wikipedia.org/wiki/HIRA
en.wikipedia.org
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Loeys-Dietz Syndrome -- GeneReviews -- NCBI Bookshelf
Shprintzen-Goldberg syndrome (SGS) is characterized by craniosynostosis ... The diagnosis of Shprintzen-Goldberg syndrome is suspected in individuals with ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=loeys-dietz
www.ncbi.nlm.nih.gov
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List of genetic disorders - Wikipedia, the free encyclopedia
47,XYY syndrome. C. Y. 5-ALA dehydratase-deficient porphyria. see ALA ... Shprintzen syndrome. see 22q11.2 deletion syndrome. D. 22q. sickle cell anemia ...
http://en.wikipedia.org/wiki/List_of_genetic_disorders
en.wikipedia.org
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Cytochrome P450 Oxidoreductase Deficiency -- GeneReviews -- NCBI Bookshelf
Shprintzen-Goldberg syndrome overlaps with ABS in that both can have ... Shprintzen-Goldberg syndrome overlaps phenotypically with moderate cytochrome ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=abs
www.ncbi.nlm.nih.gov
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Stickler Syndrome -- GeneReviews -- NCBI Bookshelf
The diagnosis of Stickler syndrome is clinically based. ... 100 individuals with Robin sequence had Stickler syndrome [Shprintzen et al 1988] ... Shprintzen RJ. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=stickler
www.ncbi.nlm.nih.gov
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PMID 17638618
... defects, fetal valproate syndrome, and syndromes of unknown ... syndrome; neural tube defects; Meckel syndrome; Shprintzen-Goldberg omphalocele ...
http://www.ncbi.nlm.nih.gov/pubmed/17638618
www.ncbi.nlm.nih.gov
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PMID 9401003
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies. ... isolated skeletal features of Marfan syndrome, and Shprintzen-Goldberg syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/9401003
www.ncbi.nlm.nih.gov
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AceView: gene:FBN1, a comprehensive annotation of human, mouse and worm ...
AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering ... syndrome, and Shprintzen ...
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?exdb...
www.ncbi.nlm.nih.gov
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OMIM Update List for August, 1997
182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS ... 182210 SHPRINTZEN OMPHALOCELE SYNDROME. 182601 SPASTIC PARAPLEGIA-4, AUTOSOMAL DOMINANT; SPG4 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?8.1997
www.ncbi.nlm.nih.gov
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