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18q deletion syndrome - rare chromosomal disorder involving long arm of chromosome 18 Definition for 18q deletion syndrome de Grouchy syndrome is a rare congenital medical condition caused by an abnormality involving chromosome 18. more de Grouchy syndrome is a rare congenital medical condition caused by an abnormality involving chromosome 18. It has two forms, classified as type 1 or type 2, depending on the nature of the genetic lesion. de Grouchy syndrome type 1 involves deletion of genes from the short arm of the chromosome (18p). less some common symptoms delayed development hearing loss short stature some related diagnoses 1 - 7 of 16 diagnoses fetal alcohol syndrome meningitis common variable immunodeficiency drugs and toxins human immunodeficiency virus infections malnutrition intracranial arteriovenous malformations   more do i have '18q deletion syndrome'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for '18q deletion syndrome' 1 - 5 of 12 diagnostic tests Chromosomal analysis 18q deletion syndrome and Chromosomal analysis Comprehensive eye exam 18q deletion syndrome and Comprehensive eye exam Developmental testing 18q deletion syndrome and Developmental testing Hearing test standard technique of representing hearing loss 18q deletion syndrome and Hearing test Vision test 18q deletion syndrome and Vision test X-rays 18q deletion syndrome and X-rays CT craniofacial 18q deletion syndrome and CT craniofacial CT external ear 18q deletion syndrome and CT external ear CT face 18q deletion syndrome and CT face CT middle ear 18q deletion syndrome and CT middle ear CT scan 18q deletion syndrome and CT scan speech reception threshold (SRT) 18q deletion syndrome and speech reception threshold (SRT) for more please login, login is free (click to login) therapeutic procedures for '18q deletion 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 18q deletion syndrome: therapeutic procedure search results for '18q deletion syndrome' 1 - 3 of 3 therapeutic procedures rankings are computer generated. please consult your health care provider. Special Education 18q deletion syndrome and Special Education Speech Therapy 18q deletion syndrome and Speech Therapy Vision test 18q deletion syndrome and Vision test medications search results for '18q deletion syndrome' rankings are computer generated. please consult your health care provider. web search results for 18q deletion syndrome Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - 18q deletion syndrome De novo 18q deletion with mitral valve insufficiency. Mitral deficiency has not been reported in 18q deletion syndrome cases previously. ... of the present patient with previously reported cases with 18q syndrome. ... http://www.ncbi.nlm.nih.gov/pubmed/18990980?ordinalpos=31&it...   www.ncbi.nlm.nih.gov - summary Autonomic seizures versus syncope in 18q- deletion syndrome: a case report. PURPOSE: The 18q- deletion syndrome (18qDS) is frequently associated with cardiac anomalies. Patients with this syndrome may also have epilepsy, which presents ... http://www.ncbi.nlm.nih.gov/pubmed/10961633   www.ncbi.nlm.nih.gov - summary De Grouchy syndrome - Wikipedia, the free encyclopedia De Grouchy syndrome type 1 involves deletion of genes from the short arm of the chromosome (18p) ... OMIM - Chromosome 18q Deletion Syndrome ... http://en.wikipedia.org/wiki/De_Grouchy_Syndrome   en.wikipedia.org - summary Short philtrum Chromosome 18q deletion syndrome. Cohen syndrome. DiGeorge syndrome. Oral-facial-digital syndrome (OFD) Home Care ... define a specific syndrome or condition. ... http://adam.about.com/encyclopedia/Short-philtrum.htm   adam.about.com - summary MedlinePlus Medical Encyclopedia: Short philtrum Chromosome 18q deletion syndrome. Cohen syndrome. DiGeorge syndrome. Oral-facial-digital syndrome (OFD) Home Care Return to top ... http://www.nlm.nih.gov/medlineplus/ency/article/003302.htm   www.nlm.nih.gov - summary MIM Gene map ... deletion syndrome. 146390. Chromosome 18p deletion ... Chromosome 18q deletion syndrome (4) DS. 18q. OHDS. Orthostatic hypotensive disorder of Streeten ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?d9537   www.ncbi.nlm.nih.gov - summary WebMD Health A-Z - Find reliable health and medical information on ... Chromosome 17, Interstitial Deletion 17p. Chromosome 18 Long Arm Deletion Syndrome ... Chromosome 18q- Syndrome. Chromosome 21 Ring. Chromosome 22 Ring ... http://www.webmd.com/a-to-z-guides/health-topics/cf-cj.htm   www.webmd.com - summary MIM Gene map Chromosome 18q deletion syndrome (4) DS. 18q. OHDS. Orthostatic hypotensive disorder of Streeten ... 226650 (3); Laryngoonychocutaneous syndrome, 245660 (3) ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l139312   www.ncbi.nlm.nih.gov - summary MIM Gene map ... deletion syndrome. 146390. Chromosome 18p deletion ... Chromosome 18q deletion syndrome (4) DS. 18q. OHDS. Orthostatic hypotensive disorder of Streeten ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l176888   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juin 2008 ... Hits Référent -4616997 32.64% - (Direct Request) 3455157 24.43% http://www.orpha. ... www.medigle.de/rw/diagnoses/18p+deletion+syndrome 114 0.00% http://www.orpha.net ... http://www.orpha.net/stat/orphanet/ref_200806.html   www.orpha.net - summary MIM Gene map ... deletion syndrome. 146390. Chromosome 18p deletion ... Chromosome 18q deletion syndrome (4) DS. 18q. OHDS. Orthostatic hypotensive disorder of Streeten ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l605801   www.ncbi.nlm.nih.gov - summary MIM Gene map Chromosome 18q deletion syndrome (4) DS. 18q. OHDS. Orthostatic hypotensive disorder of Streeten ... 226650 (3); Laryngoonychocutaneous syndrome, 245660 (3) ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l607274   www.ncbi.nlm.nih.gov - summary 18q partial trisomy syndrome - NextBio ... publication results for: 18q partial trisomy syndrome ... This deletion is considered a contiguous gene deletion syndrome, and has been shown to vary in ... http://www.nextbio.com/b/home/home.nb?q=18q+partial+trisomy+...   www.nextbio.com - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Novembre ... 32 0.05% syndrome de lyell 31 0.05% artrite psoriatica 31 0.05% atresia de ... 4 0.01% chromosome 1p36 deletion 4 0.01% cirrosi biliare primitiva ... http://orphanet.orpha.net/stat/orphanet/search_200611.html   orphanet.orpha.net - summary MIM Gene map ... deletion syndrome. 146390. Chromosome 18p deletion ... Chromosome 18q deletion syndrome (4) DS. 18q. OHDS. Orthostatic hypotensive disorder of Streeten ... http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l607479   www.ncbi.nlm.nih.gov - summary CHAPTER 28 INDEXING PRINCIPLES FOR CATEGORY G (BIOLOGICAL SCIENCES ... The incidence of Down syndrome in relation to the age of the mother. ... DELETION 28.39.5 MUTATION 28.39.6 MUTAGENESIS 28.39.7 DNA MUTATIONAL ANALYSIS ... http://www.nlm.nih.gov/mesh/2K/indman/chapter_28.html   www.nlm.nih.gov - summary Chromosome 18q- Syndrome - Yahoo! Health ... possible that the main title of the report Chromosome 18q- Syndrome is not the name you expected. Please check the ... Arm Deletion Syndrome. Chromosome 18, ... http://health.yahoo.com/children-genetic/chromosome-18q-synd...   health.yahoo.com - summary OMIM Update List for October, 2006 Clinical Synopsis for 601808 CHROMOSOME 18q DELETION SYNDROME ... Clinical Synopsis for 606528 HOMOZYGOUS 11p15-p14 DELETION SYNDROME. October 23, 2006 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?10.2006   www.ncbi.nlm.nih.gov - summary 18q partial monosomy syndrome - NextBio 18p- syndrome 18q- syndrome amino acid AXIN1 balanced translocation Beckwith ... deletion of chromosome DNA Down syndrome eyelashes fetus high arched palate ... http://www.nextbio.com/b/home/home.nb?q=18q+partial+monosomy...   www.nextbio.com - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juillet ... ... 12 0.01% weaver syndrome 12 0.01% whipple 11 0.01% 18q 11 0.01% adactilia 11 ... deletion 6 0.01% zollinger ellison 6 0.01% ânus 5 0.00% aarskog-scott syndrome 5 ... http://orphanet.orpha.net/stat/orphanet/search_200707.html   orphanet.orpha.net - summary Orphanet: Diseases list Tabatznik syndrome. TAC. Tachycardia - hypertension ... Telomeric deletion 18q. Telomeric deletion 19p. Telomeric deletion 1p36. Telomeric deletion 1q ... http://www.orpha.net/consor/cgi-bin/Disease_Search_List.php?lng=EN&TAG=T   www.orpha.net - summary Loyola University Health System myLoyola provides you a customized interaction with Loyola University Health System ... Chromosome 18q deletion syndrome. Cohen syndrome. DiGeorge syndrome ... http://loyolauniversity.adam.com/content.aspx?productId=101&pid=1&gid=003302   loyolauniversity.adam.com - summary : Mercy Adam Content : Chromosome 18q deletion syndrome. Cohen syndrome. DiGeorge syndrome. Oral-facial-digital syndrome (OFD) Home Care ... define a specific syndrome or condition. ... http://mercycanton3.adam.com/content.aspx?productId=101&pid=1&gid=003302   mercycanton3.adam.com - summary Health Information A member of SSM Health Care. Body, Mind, Spirit... We care for the whole person. ... Chromosome 18q deletion syndrome. Cohen syndrome. DiGeorge syndrome ... http://ssmhealth.adam.com/content.aspx?pid=1&gid=003302   ssmhealth.adam.com - summary OMIM Update List for October, 2008 601808 CHROMOSOME 18q DELETION SYNDROME ... 612313 CHROMOSOME 2q32-q33 DELETION SYNDROME ... CHROMOSOME 1q43-q44 DELETION SYNDROME. 612343 MUSICAL APTITUDE ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?10.2008   www.ncbi.nlm.nih.gov - summary Deletion of long arm of chromosome 18(18q- syndrome) - NextBio The 18q- syndrome is due to (terminal) deletion in the long arm of chromosome 18 ... Identification of cryptic rearrangements in patients with 18q- deletion syndrome. ... http://www.nextbio.com/b/home/generalSearch.nb?q=18q-+syndrome   www.nextbio.com - summary OMIM Update List for January, 2008 157900 MOEBIUS SYNDROME; MBS ... 251300 MICROCEPHALY, HIATUS HERNIA, AND NEPHROTIC SYNDROME ... 601808 CHROMOSOME 18q DELETION SYNDROME ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?1.2008   www.ncbi.nlm.nih.gov - summary Deletion of short arm of chromosome 18(18p- syndrome) - NextBio 18p- syndrome 18q- syndrome acute myeloid leukemia anomalies of chromosome ... 18p- syndrome is caused by the deletion of all or a portion of genetic material ... http://www.nextbio.com/b/home/home.nb?q=18p-+syndrome&id=142...   www.nextbio.com - summary OMIM Update List for November, 2005 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE ... 601808 CHROMOSOME 18q DELETION SYNDROME. 602037 RAS HOMOLOG GENE FAMILY, MEMBER H; RHOH ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?11.2005   www.ncbi.nlm.nih.gov - summary OMIM Update List for February, 1999 601808 CHROMOSOME 18q DELETION SYNDROME ... 259450 BRUCK SYNDROME. 263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC ... 270400 SMITH-LEMLI-OPITZ SYNDROME, TYPE I ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?2.1999   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juillet ... de cohen 20 0.06% syndrome de marshall 20 0.06% trisomie 18 19 0.06 ... juvenil 2 0.01% deletion 13q 2 0.01% deletion 18p 2 0.01% deletion 18q 2 0.01 ... http://orphanet.orpha.net/stat/orphanet/search_200607.html   orphanet.orpha.net - summary Orphanet: Valves pulmonaires, absence congénitale des Le portail des maladies rares et des médicaments orphelins ... persistant, l'association avec un syndrome de délétion 18q devra être exclue. ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=982   www.orpha.net - summary OMIM Update List for March, 2008 153550 CHROMOSOME 5q DELETION SYNDROME. 155600 MELANOMA, CUTANEOUS MALIGNANT; CMM ... Clinical Synopsis for 601808 CHROMOSOME 18q DELETION SYNDROME ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2008   www.ncbi.nlm.nih.gov - summary OMIM Update List for May, 1997 601808 CHROMOSOME 18q DELETION SYNDROME. 601809 SPONDYLOSPINAL THORACIC DYSOSTOSIS ... 601808 CHROMOSOME 18q DELETION SYNDROME. May 16, 1997. New Entries: ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?5.1997   www.ncbi.nlm.nih.gov - summary OMIM Update List for June, 1998 601808 CHROMOSOME 18q DELETION SYNDROME. 601828 NUCLEAR RECEPTOR-RELATED 1; NURR1 ... 601808 CHROMOSOME 18q DELETION SYNDROME. 601992 FRIEDREICH ATAXIA 2; FRDA2 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?6.1998   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Decembre ... ... microftalmia 72 0.16% sapho 71 0.16% apaiser 69 0.15% capillary leak syndrome 68 ... 31 0.07% parsonage turner syndrome 31 0.07% sindrome di gilbert ... http://orphanet.orpha.net/stat/orphanet/search_200612.html   orphanet.orpha.net - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Janvier ... syndrome 20 0.04% liposarkom 20 0.04% maladie de fabry 20 0.04% micropenis 20 ... basal 3 0.01% delecion 5p 3 0.01% deletion 1p36 3 0.01% demence a corps de lewy ... http://www.orpha.net/stat/orphanet/search_200701.html   www.orpha.net - summary OMIM Update List for July, 2001 193300 VON HIPPEL-LINDAU SYNDROME; VHL ... 240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I ... 601808 CHROMOSOME 18q DELETION SYNDROME ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?7.2001   www.ncbi.nlm.nih.gov - summary OMIM Update List for August, 1997 601850 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME 1, AUTOSOMAL DOMINANT ... Clinical Synopsis for 601808 CHROMOSOME 18q DELETION SYNDROME ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?8.1997   www.ncbi.nlm.nih.gov - summary OMIM Update List for August, 2007 ... CHROMOSOME 16p13.3 DELETION SYNDROME. 611116 MICRO RNA 208; ... 601808 CHROMOSOME 18q DELETION SYNDROME. 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?8.2007   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Aout 2007 ... ... klinefelter 125 0.09% capillary leak syndrome 124 0.09% microftalmia 121 0.09 ... hiperoxaluria 24 0.02% lewis sumner syndrome 24 0.02% linfedema congenito 24 ... http://orphanet.orpha.net/stat/orphanet/search_200708.html   orphanet.orpha.net - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juin 2007 ... syndrome 34 0.02% carcinoma nasofaringeo 34 0.02% demodicidosis 34 0.02% factor ... 7 0.01% y chromosome deletion 6 0.00% abdominal lateral 6 0.00% abnormal ... http://www.orpha.net/stat/orphanet/search_200706.html   www.orpha.net - summary OMIM Update List for September, 2006 601808 CHROMOSOME 18q DELETION SYNDROME. 602215 DEFENSIN, BETA, 4; DEFB4 ... Clinical Synopsis for 610253 CHROMOSOME 9q SUBTELOMERIC DELETION SYNDROME ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?9.2006   www.ncbi.nlm.nih.gov - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Decembre ... ... 0.12% maladies rares 23 0.12% syndrome de gougerot sjogren 21 0.11% moya ... 8 0.04% ugola bifida 8 0.04% wrinkly skin syndrome 7 0.04% 18q deletion 7 0.04 ... http://www.orpha.net/stat/orphanet/search_200712.html   www.orpha.net - summary Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mars 2008 ... ... congenital rube 2 0.00% 17betahsd 2 0.00% 18q 2 0.00% 192.154.91.225 2 ... reductase deficiency syndrome 2 0.00% 5p deletion karyotype 2 0.00% 81.93.6.203 ... http://www.orpha.net/stat/orphanet/search_200803.html   www.orpha.net - summary OMIM Update List for April, 2009 601808 CHROMOSOME 18q DELETION SYNDROME. 601900 INTERFERON REGULATORY FACTOR 4; IRF4 ... 603554 OMENN SYNDROME ... 605056 WISKOTT-ALDRICH SYNDROME GENE-LIKE; WASL ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?4.2009   www.ncbi.nlm.nih.gov - summary Global brain dysmyelination with above-average verbal skills in 18q ... ... with above-average verbal skills in 18q- syndrome with a 17 Mb terminal deletion. ... radiologic status in a 23-year-old woman with a terminal 18q deletion. ... http://www.ncbi.nlm.nih.gov/pubmed/16867037   www.ncbi.nlm.nih.gov - summary (External) PubMed Abstract ... have a de novo chromosome 18q segmental deletion (Patient 1), thus pointing at ... common region of deletion in 18q- syndrome, we inferred that this macroglossia ... http://www.ncbi.nlm.nih.gov/pubmed/17994567?dopt=Citation   www.ncbi.nlm.nih.gov - summary In utero exposure to mycophenolate mofetil: a characteristic phenotype? Mycophenolate mofetil (MMF) is a widely prescribed ... syndrome, 18q deletion and hypertelorism-microtia-clefting (HMC) syndrome, is presented. ... http://www.ncbi.nlm.nih.gov/pubmed/18074358?ordinalpos=4&ito...   www.ncbi.nlm.nih.gov - summary Cleveland Clinic Reference Laboratory - Test List FISH for DiGeorge Syndrome (FISH for 22q11.2 Del, VCF, DiGeorge) DGEORG ... Fluorescence In Situ Hybridization for MALT 1 (18q (FISH for MALT 1 (18q21)) 82803 ... http://referencelab.clevelandclinic.org/DBSearch/TestList.asp?Key=F   referencelab.clevelandclinic.org - summary show more 1  2