reduced results from

716 B

114 M

15 M

480

479

to ~58 options

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

category eye diseases, gastrointestinal, genetic or congenital frequency rare (U.S.)

likelihood by age

likelyhood by duration of symptoms

related physician types family practitioner internist gastroenterologist 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.

coloboma of iris-anal atresia syndrome Definition for coloboma of iris-anal atresia syndrome Cat Eye Syndrome is a very rare malformation involving Chromosome 22. The short arm (p) and a small section of the long arm (q) are present three (trisomic) or four times (tetrasomic) instead of the usual two times. more Cat Eye Syndrome is a very rare malformation involving Chromosome 22. The short arm (p) and a small section of the long arm (q) are present three (trisomic) or four times (tetrasomic) instead of the usual two times. The additional chromosome 22 usually arises spontaneously (de novo), though it has been reported to have been passed down in families, and some reports show the parents as mosaic for the marker chromosome but who show no phenotypic (outer) symptoms of the syndrome. less some common symptoms absent anal canal constipation defect in iris of eye stomach swelling some related diagnoses 1 - 7 of 58 diagnoses constipation drugs and toxins irritable bowel syndrome CMV colitis Crohn Disease inflammatory bowel disease intraabdominal tumors   more do i have 'coloboma of iris-anal atresia syndrome'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'coloboma of iris-anal atresia syndrome' NO RESULTS coloboma of iris-anal atresia syndrome and diagnostic tests therapeutic procedures for 'coloboma of iris-anal atresia 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 coloboma of iris-anal atresia syndrome: rankings are computer generated. please consult your health care provider. medications search results for 'coloboma of iris-anal atresia syndrome' rankings are computer generated. please consult your health care provider. web search results for coloboma of iris-anal atresia syndrome Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - coloboma of iris-anal atresia syndrome [Coloboma of the iris and anal atresia. Cat eye syndrome. Schmid ... [Coloboma of the iris and anal atresia. Cat eye syndrome. Schmid-Fraccaro's syndrome] ... Iris [abnormalities] Syndrome. PreMedline Identifier: 1189049 ... http://www.medscape.com/medline/abstract/1189049   www.medscape.com - summary Specific Genetic Diseases at Risk for Sedation/Anesthesia Complications ... Cat-eye Syndrome (Coloboma of Iris-Anal Atresia Syndrome): 22pterq11 present in quadruplicate ... Coloboma, down-slanting palpebral fissures, anal atresia, ... http://www.anesthesia-analgesia.org/cgi/content/full/91/4/837/TBL1A4181   www.anesthesia-analgesia.org - summary Mendelian Inheritance in Man Document Reader ... syndrome (CES) is a combination of coloboma of the iris and anal atresia with ... the proband showed coloboma of the iris, preauricular pits, and anal stenosis. ... http://www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+115470   www.angis.org.au - summary Cardiovascular Genetics - Cardiac Phenotypes In Genetic Syndromes eye (coloboma of iris), anal atresia w/ fistula, down slanting palpebral ... Goldenhar's syndrome - Hemifacial Microsomia - Oculoauriculo-vertebral Dysplasia ... http://www.cardiogenetics.org/table_cardiac_phenotype.asp   www.cardiogenetics.org - summary dup(22)(q11) - Humpath.com - Human pathology - Photos - pictures - videos Cat eye syndrome (CAS), Schmid-Fraccaro syndrome, chromsome 22 partial tetrasomy. ... combination of coloboma of the iris and anal atresia with fistula, downslanting ... http://www.humpath.com/dup-22-q11   www.humpath.com - summary Chromosome 22 related Syndromes ... syndrome ( CES ) is a combination of coloboma of the iris and anal atresia with ... Coloboma - anal atresia syndrome. Ocular coloboma-imperforate anus syndrome ... http://www.ibis-birthdefects.org/start/digeorge.htm   www.ibis-birthdefects.org - summary Medisurf - Medisurf's Categories Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting ... http://www.medisurf.com/Category/category.asp?GENE_NO=D020014&gp=1   www.medisurf.com - summary CHARGE Syndrome -- GeneReviews -- NCBI Bookshelf ... association is a combination of vertebral anomalies, anal atresia, cardiac ... syndrome, characterized by the combination of coloboma of the iris and anal ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=charge   www.ncbi.nlm.nih.gov - summary trisomy 22 - definition of trisomy 22 in the Medical dictionary - by ... ... normal pair and causes coloboma of the iris, anal atresia, or both, as well as ... See also cat-eye syndrome. How to thank TFD for its existence? ... http://medical-dictionary.thefreedictionary.com/trisomy+22   medical-dictionary.thefreedictionary.com - summary Cat Eye Syndrome absence of tissue from the colored part of one or both eyes (iris coloboma) ... an absence or obstruction of the anus (anal atresia) ... http://rarediseases.about.com/od/chromosomedisorders/a/cateyesyndrome.htm   rarediseases.about.com - summary Cat Eye syndrome A US Department of Health and Human Service project providing information on ... Coloboma of the iris and anal atresia with fistula, downslanting palpebral ... http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=26   rarediseases.info.nih.gov - summary CIGNA - Cat Eye Syndrome The coloboma may involve the colored region (iris), the middle layer (choroid) ... The presence of coloboma occurring along with anal atresia (see "Symptoms" above) ... http://www.cigna.com/healthinfo/nord1085.html   www.cigna.com - summary CECR(CES) - NextBio ... entry because a chromosomal abnormality is known in this syndrome. However, because in many of the reported cases the ... coloboma of the iris and anal atresia ... http://www.nextbio.com/b/home/home.nb?q=CES   www.nextbio.com - summary Coloboma of optic nerve with renal disease - WrongDiagnosis.com Papillorenal syndrome. Renal-coloboma syndrome. Optic nerve coloboma with renal ... Next page: Coloboma of the iris and anal atresia with fistula, downslanting ... http://www.wrongdiagnosis.com/medical/coloboma_of_optic_nerv...   www.wrongdiagnosis.com - summary Radspace : ?????? Library Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting ... http://bbs.radiology.or.kr/radspace/diseases/index.asp?ID=D020014   bbs.radiology.or.kr - summary Medical Library and Physician's Directory, Health Information - Cat Eye ... Cat eye syndrome is a constitutional chromosome abnormality (one that is present ... of the iris of the eye (vertical coloboma) and no anal opening (anal atresia) ... http://www.medical-library.net/content/view/1064/41/   www.medical-library.net - summary Cat eye syndrome definition - Medical Dictionary definitions of popular ... Online Medical Dictionary and glossary with medical definitions ... of the iris of the eye (vertical coloboma) and no anal opening (anal atresia) ... http://www.medterms.com/script/main/art.asp?articlekey=12101   www.medterms.com - summary Results For "Coloboma" - SearchMedica - Professional Medical Search syndrome iris nerve eye optic nerve ophthalmology mental handicap congenital ... nonrandom association of coloboma heart anomalies choanal atresia retardation of ... http://www.searchmedica.com/search.do?q=Coloboma&c=pc&ss=def...   www.searchmedica.com - summary Cat Eye Syndrome - Talk Medical Human-friendly medical definition of Cat Eye Syndrome ... of the iris of the eye (vertical coloboma) and no anal opening (anal atresia) ... http://www.talkmedical.com/medical-dictionary/2530/Cat-Eye-Syndrome   www.talkmedical.com - summary Cat eye syndrome - wikidoc Unilateral or bilateral iris coloboma (absence of tissue from the colored part of ... Chromosomes in Coloboma and Anal Atresia". Lancet 2: 290. PMID 14330081. ... http://www.wikidoc.org/index.php/Cat_Eye_syndrome   www.wikidoc.org - summary Differential Diagnosis for Eye symptoms/signs Axenfeld syndrome/iris anomaly. Choroid coloboma. Coloboma and Anal Atresia Syndrome. Coloboma, iris ... Optic atrophy, hereditary, of Leber. Reis-Beucklers dystrophy ... http://en.diagnosispro.com/differential_diagnosis-for/eye-sy...   en.diagnosispro.com - summary Cat eye syndrome - Wikipedia, the free encyclopedia Unilateral or bilateral iris coloboma (absence of tissue from the colored part of ... Chromosomes in Coloboma and Anal Atresia". Lancet 2: 290. PMID 14330081. ... http://en.wikipedia.org/wiki/Cat_eye_syndrome   en.wikipedia.org - summary Orthopaedics Syndromes Second Page BIEMOND II - OBESITY; POLYDACTYLY; IRIS COLOBOMA ... CURRARINO TRIAD - ANAL ATRESIA; SACRAL ANOMALIES; PRESACRAL MASS (ASP) CURRY-JONES SYNDROME ... http://freeortho.com/syndromes2.html   freeortho.com - summary Proximal 10q trisomy: a new case with anal atresia -- LAM et al. 37 (9 ... ... that are distinct from those of the more common distal 10q trisomy syndrome. ... developmental retardation, ocular malformations like iris coloboma ... http://jmg.bmj.com/cgi/content/extract/37/9/e24   jmg.bmj.com - summary Coloboma :: diagnosis ... anal atresia, ocular coloboma, preauricular tags or sinuses, congenital heart ... Human; Iris :: abnormalities; Male; Middle Aged; Pedigree; Prognosis; Syndrome; ... http://lib.bioinfo.pl/meid:90215   lib.bioinfo.pl - summary [ ] Congenital Renal Dise+ unknown mode of inheritance. CHARGE Syndrome. Coloboma of iris / retina 80% Heart defects 75 ... Anal atresia. Cardiac abnormalities. Tracheoesophageal fistula ... http://ped1.med.uth.tmc.edu/nephrology2/Documents/Congenital...   ped1.med.uth.tmc.edu - summary Chromosome 22 Central bilateral coloboma of iris & choroid. long philtrum (the vertical area below the ... anal atresia. cleft lip & palate. intestinal malrotation( malrotation of gut) ... http://www.c22c.org/cesfindings.htm   www.c22c.org - summary Madisons Foundation - Moms And Dads In Search Of Needed Support ... Facial abnormalities: -Coloboma (irregular shape) of the iris (the black part in ... of extra material on chromosome 22. Either anal atresia or coloboma must ... http://www.madisonsfoundation.org/index.php/component/option...   www.madisonsfoundation.org - summary Ocular Syndromes and Systemic Diseases: Cat's-Eye Syndrome ... ... iris coloboma (cat eye); cataract; choroidal coloboma; epicanthal ... Schachenmann G, et al. Chromosomes in coloboma and anal atresia. Lancet 1965; 2:290. ... http://www.medrounds.org/ocular-syndromes/2007/03/cats-eye-s...   www.medrounds.org - summary Mendelian Inheritance in Man Document Reader ... a family in which the combination of coloboma of the iris, anal stenosis, ... L.; Perona, G. P.; Sartori, E.: Chromosomes in coloboma and anal atresia. ... http://www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+180500   www.angis.org.au - summary CHARGE Syndrome ... syndrome is characterized by unilateral or bilateral coloboma of the ... iris and anal atresia with fistula, preauricular tags and/or pits, and frequent ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary CIGNA - CHARGE Syndrome Coloboma, Heart, Atresia of the Choanae, Retardation of Growth and ... Vertebral anomalies, limb anomalies and anal atresia are each very common in ... http://www.cigna.com/healthinfo/nord550.html   www.cigna.com - summary Medisurf - Medisurf's Categories ... combination of coloboma of the iris and anal atresia with fistula, downslanting ... Childhood Nephrotic Syndrome, National Institute of Diabetes and ... http://www.medisurf.com/Category/category.asp?GENE_NO=D023015&page=1   www.medisurf.com - summary Intrinsic aetiology Shprintzen-Goldberg syndromeref is one of a group of disorders ... Symptoms & signs : coloboma of the iris and anal atresia; there may also be many ... http://focosi.altervista.org/intrinsicaetiology.htm   focosi.altervista.org - summary Human protein: Q9BXW7 - Cat eye syndrome critical region protein 5 ... Analysis of the cat eye syndrome critical region in humans and the region of ... the combination of coloboma of the iris and anal atresia with fistula, ... http://harvester.embl.de/harvester/Q9BX/Q9BXW7.htm   harvester.embl.de - summary Biology 442, Human Genetics - Chromosome Abnormalities 95% of Down syndrome patients are trisomy 21 and 4% are unbalanced ... includes coloboma (slit) of the iris and anal atresia (closed anus) have a " ... http://www.carolguze.com/text/442-5-chromosome_abnormalities.shtml   www.carolguze.com - summary FONAMA - Elenco delle malattie rare in inglese 3c syndrome. 3m syndrome. 4 alpha hydroxyphenylpyruvate ... retardation anal atresia urinary defects ... coloboma of iris. coloboma of lens ala nasi ... http://www.fonama.org/informazioni/malattie_rare.html   www.fonama.org - summary CECR1 Gene - GeneCards | CECR1 Protein | CECR1 Antibody ... coding), cat eye syndrome chromosome region, candidate 1 ... of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags ... http://www.genecards.org/cgi-bin/carddisp.pl?gene=CECR1   www.genecards.org - summary Cat-Eye-Syndrome (Birth defects & disorders) Symptoms of the disorder include absence of tissue in the iris, small skin tags ... Gastrointestinal-Atresia 0. Gastroschisis 5. Goldenhar-Syndrome 0 ... http://www.i-am-pregnant.com/Birth/Birth-defects/Cat-Eye-Syndrome   www.i-am-pregnant.com - summary Orphanet: Cat eye syndrome Cat-eye syndrome is characterized by two major features: anal atresia and coloboma of the iris, from which the name of the syndrome derives. ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=195   www.orpha.net - summary Cat eye syndrome critical region protein 1 precursor - Homo sapiens (Human) ... the combination of coloboma of the iris and anal atresia with fistula, ... growth factor, CECR1, is a candidate gene for features of cat eye syndrome. ... http://www.uniprot.org/uniprot/Q9NZK5   www.uniprot.org - summary Cat Eye Syndrome ... with cat eye syndrome frequently have coloboma(s), downslanting eyelid folds ... tags and pits); and/or absence (atresia) of the anal canal, with an abnormal ... http://www.webmd.com/eye-health/cat-eye-syndrome   www.webmd.com - summary Coloboma :: genetics CHARGE (coloboma, heart defects, atresia choanae, retarded growth and ... microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. ... http://lib.bioinfo.pl/meid:92087   lib.bioinfo.pl - summary UniProtKB/Swiss-Prot entry Q9BXF3 [CECR2_HUMAN] Cat eye syndrome ... "Analysis of the cat eye syndrome critical region in humans and the region of ... the combination of coloboma of the iris and anal atresia with fistula, ... http://www.expasy.org/uniprot/Q9BXF3   www.expasy.org - summary Disease Information from NORD, National Organization for Rare Disorders ... ... with cat eye syndrome frequently have coloboma(s), downslanting eyelid folds ... tags and pits); and/or absence (atresia) of the anal canal, with an abnormal ... http://www.rarediseases.org/search/rdbdetail_abstract.html?d...   www.rarediseases.org - summary International Classification of Diseases - Congenital Anomalies ... of iris and ciliary body Anisocoria, congenital Atresia of pupil Coloboma ... 746.7 Hypoplastic left heart syndrome Atresia, or marked hypoplasia, of aortic ... http://www.theodora.com/diseases/congenital_anomalies.html   www.theodora.com - summary CECR9 Gene - GeneCards | CECR9 Protein | CECR9 Antibody ... coding), cat eye syndrome chromosome region, candidate 9 ... of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags ... http://www.genecards.org/cgi-bin/carddisp.pl?gene=CECR9   www.genecards.org - summary Cat Eye Syndrome - AOL Health ... with cat eye syndrome frequently have coloboma(s), downslanting eyelid folds ... tags and pits); and/or absence (atresia) of the anal canal, with an abnormal ... http://aolhealth.com/conditions/cat-eye-syndrome   aolhealth.com - summary [No title] ... breakpoint at q11 slightly proximal of the DiGeorge syndrome critical region) ... malformations, including coloboma of iris/retina, anal atresia with fistula, ... http://www.biologia.uniba.it/eca/NEWSLETTER/NS-2/2-.html   www.biologia.uniba.it - summary Cat Eye Syndrome - Health.com ... with cat eye syndrome frequently have coloboma(s), downslanting eyelid folds ... tags and pits); and/or absence (atresia) of the anal canal, with an abnormal ... http://www.health.com/health/library/mdp/0,,nord1085,00.html   www.health.com - summary show more 1  2