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shprintzen syndrome - rare genetic disease with heart defects and abnormal facial features Definition for Shprintzen Syndrome http://health.yahoo.com/ency/healthwise/_nord853 some common symptoms cognitive defect delayed development heart murmur learning problems some related diagnoses 1 - 7 of 19 diagnoses fetal alcohol syndrome Hartnup disease drugs and toxins human immunodeficiency virus infections hydrocephalus urea cycle disorders pervasive developmental disorder   more 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) for more please login, login is free (click to login) 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' 1 - 5 of 6 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 for more please login, login is free (click to login) medications search results for 'shprintzen syndrome' 1 - 1 of 1 medications rankings are computer generated. please consult your health care provider.   bactrim Shprintzen Syndrome and bactrim web search results for shprintzen syndrome Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet 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 - 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 - 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 - 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 - 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 - 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 - summary 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 - 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 - 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 - 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 - summary 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 - summary 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 - summary 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - summary 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 - 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 - summary 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 - summary 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 - summary 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 - summary 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 - summary 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 - summary -- 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 - summary 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 - summary 182212 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182212   www.ncbi.nlm.nih.gov - summary 188400 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188400   www.ncbi.nlm.nih.gov - summary 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 - summary 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 - summary 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 - summary 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 - summary 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 - summary 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 - summary 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 - summary 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 - summary 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 - summary 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 - summary 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 - summary 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 - summary 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 - summary 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 - summary 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 - summary 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 - summary 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 - summary show more 1  2