reduced results from

27 B

4 M

604800

188

175

to ~1 options

options split into images, definition, symptoms, related diagnoses, diagnostic tests, therapies, and medications

category genetic or congenital frequency rare (U.S.)

likelihood by age

likelyhood by duration of symptoms

related physician types family practitioner internist genetics specialist postal code Find Local The results are computer generated suggestions to help you find a physician. MEDgle does not recommend any particular type of physician or claim to be complete or accurate in the providers and specialties suggested.

opitz syndrome - rare genetic disease associated with midline abnormalities Definition for Opitz Syndrome http://health.yahoo.com/ency/healthwise/nord828 some common symptoms abnormal placement of urethral opening in males delayed development lump or swelling in groin in males testes not felt in scrotum some related diagnoses 1 - 1 of 1 diagnoses congenital myopathies   more do i have 'Opitz Syndrome'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'opitz syndrome' 1 - 5 of 10 diagnostic tests ECHOcardiogram Opitz Syndrome and ECHOcardiogram Abdominal ultrasonography Ultrasound of abdominal contents Opitz Syndrome and Abdominal ultrasonography Abdominal MRI MRI of abdominal contents Opitz Syndrome and Abdominal MRI Molecular Genetic Studies Opitz Syndrome and Molecular Genetic Studies Brain MRI Opitz Syndrome and Brain MRI CT chest Opitz Syndrome and CT chest CT scan Opitz Syndrome and CT scan Chest X-ray Radiological technique to image the chest Opitz Syndrome and Chest X-ray Developmental testing Opitz Syndrome and Developmental testing Upper GI Series Xray examination of upper digestive tract after drinking barium Opitz Syndrome and Upper GI Series for more please login, login is free (click to login) therapeutic procedures for 'Opitz 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 Opitz Syndrome: therapeutic procedure search results for 'opitz syndrome' 1 - 1 of 1 therapeutic procedures rankings are computer generated. please consult your health care provider. Tracheostomy Opitz Syndrome and Tracheostomy medications search results for 'opitz syndrome' rankings are computer generated. please consult your health care provider. web search results for opitz syndrome Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - Opitz Syndrome Smith-Lemli-Opitz syndrome - Wikipedia, the free encyclopedia Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia) ... Smith-Lemli-Opitz syndrome has an autosomal recessive pattern of inheritance. ... http://en.wikipedia.org/wiki/Smith-Lemli-Opitz_syndrome   en.wikipedia.org - summary Smith-Lemli-Opitz syndrome - Genetics Home Reference Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. ... Gene Review: Smith-Lemli-Opitz Syndrome ... http://ghr.nlm.nih.gov/condition=smithlemliopitzsyndrome   ghr.nlm.nih.gov - summary Smith Lemli Opitz Syndrome - Yahoo! Health Important It is possible that the main title of the report Smith Lemli Opitz Syndrome is not the name you expected. Please check the synonyms listing to find the ... http://health.yahoo.com/other-other/smith-lemli-opitz-syndro...   health.yahoo.com - summary Smith-Lemli-Opitz Syndrome -- GeneReviews -- NCBI Bookshelf Classic Smith-Lemli-Opitz syndrome (SLOS) is characterized by prenatal and ... This disorder was termed Smith-Lemli-Opitz syndrome type II. With the advent of ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=slo   www.ncbi.nlm.nih.gov - summary Smith-Lemli-Opitz syndrome - References - Genetics Home Reference ... Lemli-Opitz Syndrome ... The Smith-Lemli-Opitz syndrome: a novel metabolic ... insights into the Smith-Lemli-Opitz syndrome. Clin Genet. 2005 Nov;68(5) ... http://ghr.nlm.nih.gov/condition=smithlemliopitzsyndrome/show/References   ghr.nlm.nih.gov - summary Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome. Smith-Lemli-Opitz syndrome (SLOS, RSH/SLO syndrome, MIM 270400) is an autosomal ... Smith-Lemli-Opitz syndrome is a metabolic disorder that is associated with autism. ... http://www.ncbi.nlm.nih.gov/pubmed/10899806   www.ncbi.nlm.nih.gov - summary Smith-Lemli-Opitz syndrome - Patient support - For patients and ... ... in the Genetics Home Reference condition summary on Smith-Lemli-Opitz syndrome. ... University of Kansas Medical Center. Smith-Lemli-Opitz/RSH Foundation ... http://ghr.nlm.nih.gov/condition=smithlemliopitzsyndrome/show/Patient+support   ghr.nlm.nih.gov - summary DHCR7 and Smith-Lemli-Opitz syndrome. ... 20. DHCR7 and Smith-Lemli-Opitz syndrome. Nowaczyk MJ, Nakamura LM, Waye JS. ... Smith-Lemli-Opitz Syndrome/therapy. Substances: Cholesterol. Oxidoreductases ... http://www.ncbi.nlm.nih.gov/pubmed/11767235   www.ncbi.nlm.nih.gov - summary Smith-Lemli-Opitz syndrome - Related Gene(s) - Genetics Home Reference Genetic Conditions > Smith-Lemli-Opitz syndrome > Related Gene(s) ... Lister Hill National Center for Biomedical Communications ... http://ghr.nlm.nih.gov/condition=smithlemliopitzsyndrome/show/Related+Gene(s)   ghr.nlm.nih.gov - summary Opitz syndrome is genetically heterogeneous, with one locus on Xp22 ... Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a ... Opitz syndrome (OS, McKusick 145410) is a well described genetic syndrome ... http://www.ncbi.nlm.nih.gov/pubmed/7493033   www.ncbi.nlm.nih.gov - summary Smith-Lemli-Opitz syndrome - MedlinePlus - Health information ... Genetic Conditions > Smith-Lemli-Opitz syndrome > MedlinePlus - Health information ... in the Genetics Home Reference condition summary on Smith-Lemli-Opitz syndrome. ... http://ghr.nlm.nih.gov/condition=smithlemliopitzsyndrome/show/MedlinePlus   ghr.nlm.nih.gov - summary Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of ... Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7 ... The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of ... http://www.ncbi.nlm.nih.gov/pubmed/10602371   www.ncbi.nlm.nih.gov - summary Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol ... Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis ... Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive condition with ... http://www.ncbi.nlm.nih.gov/pubmed/10719329   www.ncbi.nlm.nih.gov - summary Functional characterization of the Opitz syndrome gene product (midin ... Functional characterization of the Opitz syndrome gene product (midin): evidence ... Opitz syndrome (OS) is a multiple congenital anomaly manifested by abnormal ... http://www.ncbi.nlm.nih.gov/pubmed/10400985   www.ncbi.nlm.nih.gov - summary MID2, a homologue of the Opitz syndrome gene MID1: similarities in ... MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular ... Smith-Lemli-Opitz Syndrome/genetics* Tissue Distribution. Transcription ... http://www.ncbi.nlm.nih.gov/pubmed/10400986   www.ncbi.nlm.nih.gov - summary Opitz G/BBB syndrome - References - Genetics Home Reference X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal ... a boy with Opitz (G/BBB) syndrome. Am J Med Genet. ... OMIM: Opitz Syndrome ... http://ghr.nlm.nih.gov/condition=opitzgbbbsyndrome/show/References   ghr.nlm.nih.gov - summary X-linked Opitz syndrome: novel mutations in the MID1 gene and ... X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of ... Opitz (or G/BBB) syndrome is a pleiotropic genetic disorder characterized by ... http://www.ncbi.nlm.nih.gov/pubmed/12833403   www.ncbi.nlm.nih.gov - summary Opitz G/BBB syndrome - OMIM - Genetic disorder catalog - Genetics Home ... ... in the Genetics Home Reference condition summary on Opitz G/BBB syndrome. OMIM: Hypertelorism with esophageal abnormality and hypospadias. OMIM: Opitz Syndrome ... http://ghr.nlm.nih.gov/condition=opitzgbbbsyndrome/show/OMIM   ghr.nlm.nih.gov - summary Talk:Smith-Lemli-Opitz syndrome - Wikipedia, the free encyclopedia Talk:Smith-Lemli-Opitz syndrome. From Wikipedia, the free encyclopedia ... edit · history · watch · refresh To-do list for Smith-Lemli-Opitz syndrome: ... http://en.wikipedia.org/wiki/Talk:Smith-Lemli-Opitz_syndrome   en.wikipedia.org - 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 health ... Syndrome. Opitz Oculogenitolaryngeal ... http://www.webmd.com/a-to-z-guides/health-topics/op-ot.htm   www.webmd.com - summary Smith-Lemli-Opitz syndrome is caused by mutations in the 7 ... Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol ... Smith-Lemli-Opitz syndrome is a frequently occurring autosomal recessive ... http://www.ncbi.nlm.nih.gov/pubmed/9683613   www.ncbi.nlm.nih.gov - summary Opitz G/BBB syndrome - Genetics Home Reference Opitz G/BBB syndrome is a genetic condition that affects several structures ... The X-linked form of Opitz G/BBB syndrome tends to include cleft lip with or ... http://ghr.nlm.nih.gov/condition=opitzgbbbsyndrome   ghr.nlm.nih.gov - summary Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8 ... Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G ... Smith-Lemli-Opitz syndrome (RHS) (SLOS, OMIM 270400) is an autosomal recessive ... http://www.ncbi.nlm.nih.gov/pubmed/11562938   www.ncbi.nlm.nih.gov - summary FG syndrome - Wikipedia, the free encyclopedia FG syndrome (FGS; also known as Opitz-Kaveggia syndrome) is a rare genetic ... FG syndrome". J Med Genet 24 (3): 139?43. PMID 3572995. ^ a b Opitz JM, Smith JF, ... http://en.wikipedia.org/wiki/FG_syndrome   en.wikipedia.org - summary Eyes and vision - Genetics Home Reference hypertelorism-hypospadias sydrome see Opitz G/BBB syndrome. hypertelorism with esophageal abnormalities and hypospadias see Opitz G/BBB syndrome ... http://www.ghr.nlm.nih.gov/conditionCategory=eyesandvision   www.ghr.nlm.nih.gov - summary X-Linked Opitz G/BBB Syndrome X-linked Opitz G/BBB syndrome is a multiple congenital anomaly ... linked Opitz G/BBB syndrome are the presence of ocular hypertelorism AND at least one of ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Orphanet: Opitz BBB/G syndrome The portal for rare diseases and orphan drugs ... Opitz syndrome is characterised by the association of craniofacial anomalies ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2745   www.orpha.net - summary MID1 - midline 1 (Opitz/BBB syndrome) - Genetics Home Reference The official name of this gene is "midline 1 (Opitz/BBB syndrome) ... Opitz G/BBB syndrome - caused by mutations in the MID1 gene ... http://ghr.nlm.nih.gov/gene=mid1   ghr.nlm.nih.gov - summary DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. ... Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of ... http://www.ncbi.nlm.nih.gov/pubmed/11298379   www.ncbi.nlm.nih.gov - summary Encyclopedia O-Oz on Yahoo! Health Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, ... spinal stenosis. Opitz G/BBB Syndrome ... http://health.yahoo.com/ency/o/   health.yahoo.com - summary Opitz G/BBB syndrome - MedlinePlus - Health information - Genetics Home ... Genetic Conditions > Opitz G/BBB syndrome > MedlinePlus - Health information ... in the Genetics Home Reference condition summary on Opitz G/BBB syndrome. ... http://ghr.nlm.nih.gov/condition=opitzgbbbsyndrome/show/MedlinePlus   ghr.nlm.nih.gov - summary Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in ... ... of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. ... BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) (MIM 270 400) is an autosomal ... http://www.ncbi.nlm.nih.gov/pubmed/17965227?ordinalpos=18&it...   www.ncbi.nlm.nih.gov - summary Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. Opitz G/BBB syndrome is a malformation syndrome of the ventral midline mainly ... Smith-Lemli-Opitz Syndrome/genetics* Transcription Factors/genetics* Substances: ... http://www.ncbi.nlm.nih.gov/pubmed/12545276   www.ncbi.nlm.nih.gov - summary Smith-Lemli-Opitz syndrome - Educational resources - Information pages ... Ask the Geneticist: Communication issues in Smith-Lemli-Opitz syndrome. Ask the Geneticist: Genetic testing for Smith-Lemli-Opitz syndrome ... http://ghr.nlm.nih.gov/condition=smithlemliopitzsyndrome/sho...   ghr.nlm.nih.gov - summary Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and ... ... 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation ... six families with Opitz-Kaveggia syndrome, including a surviving affected man ... http://www.ncbi.nlm.nih.gov/pubmed/18973276?ordinalpos=3&ito...   www.ncbi.nlm.nih.gov - summary OPITZ-FRAIS SYNDROME - Pedbase.org ... Opitz et al. in 1965 and 1969. also referred to as G Syndrome or Opitz ... 1994 -2007 Pedbase.org. Powered by Database of Pediatrics- OPITZ-FRAIS SYNDROME ... http://pedbase.org/o/opitz-frais-syndrome/   pedbase.org - summary Opitz G/BBB syndrome - Patient support - For patients and families ... Genetic Conditions > Opitz G/BBB syndrome > Patient support - For patients and families ... in the Genetics Home Reference condition summary on Opitz G/BBB syndrome. ... http://ghr.nlm.nih.gov/condition=opitzgbbbsyndrome/show/Patient+support   ghr.nlm.nih.gov - summary 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 - summary Opitz G/BBB Syndrome - Yahoo! Health Important It is possible that the main title of the report Opitz G/BBB Syndrome is not the name you expected. Please check the synonyms listing to find the ... http://health.yahoo.com/children-resources/opitz-g-bbb-syndr...   health.yahoo.com - summary Identification of three patients with a very mild form of Smith-Lemli ... Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. ... Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome ... http://www.ncbi.nlm.nih.gov/pubmed/12949967   www.ncbi.nlm.nih.gov - summary 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 - summary Opitz G/BBB syndrome - Additional NIH Resources - National Institutes ... ... Opitz G/BBB syndrome > ... Home Reference condition summary on Opitz G/BBB syndrome. ... National Institute on Deafness and Other Communication ... http://ghr.nlm.nih.gov/condition=opitzgbbbsyndrome/show/Additional+NIH+Resources   ghr.nlm.nih.gov - summary FG syndrome Opitz JM. FG syndrome. Orphanet Encyclopedia, September 2001, ... midin, the Opitz syndrome gene product. Am. Soc Hum Genet Program and Abstract, Abstract ... http://www.orpha.net/data/patho/Pro/en/FGSyndrome-FRenPro1053.pdf   www.orpha.net - summary Opitz G/BBB syndrome, a defect of midline development, is due to ... Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a ... Opitz syndrome (OS) is an inherited disorder characterized by midline defects ... http://www.ncbi.nlm.nih.gov/pubmed/9354791   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 ... Autosomal dominant Opitz G/BBB syndrome. CATCH22. Cayler cardiofacial syndrome ... http://ghr.nlm.nih.gov/condition=22q112deletionsyndrome   ghr.nlm.nih.gov - summary MID1 - References - Genetics Home Reference ... A, Meroni G. Functional characterization of the Opitz syndrome gene product ... mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase ... http://ghr.nlm.nih.gov/gene=mid1/show/References   ghr.nlm.nih.gov - summary Opitz Syndrome - Yahoo! Health ... and sharing of successes and ideas for families affected by Opitz-G/BBB syndrome. ... Health Home children Opitz Syndrome. Elsewhere on Yahoo! Health ... http://health.yahoo.com/children-genetic/opitz-syndrome/heal...   health.yahoo.com - summary 22q11.2 Deletion Syndrome -- GeneReviews -- NCBI Bookshelf Smith-Lemli-Opitz syndrome (when polydactyly and cleft palate are present). Smith-Lemli-Opitz syndrome is associated with elevated serum concentration of 7 ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gr_22q11deletion   www.ncbi.nlm.nih.gov - summary Brain and nervous system - Genetics Home Reference 7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome ... hypertelorism-hypospadias sydrome see Opitz G/BBB syndrome ... http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/brainandnervoussystem   ghr.nlm.nih.gov - summary Opitz G/BBB syndrome - Related Chromosome(s) - Genetics Home Reference Genetic Conditions > Opitz G/BBB syndrome > Related Chromosome(s) chromosome 22 ... Lister Hill National Center for Biomedical Communications ... http://ghr.nlm.nih.gov/condition=opitzgbbbsyndrome/show/Related+Chromosome(s)   ghr.nlm.nih.gov - summary show more 1  2