Birth Disorder Information Directory - F Faciogenitopopliteal Syndrome (popliteal pterygium syndrome). Cleft Lip/Palate,Paramedian Mucous Cysts of the Lower Lip, Popliteal Pterygium, http://www.bdid.com/defectf.htm
Extractions: HOME F Syndrome F Form of Acropectorovertebral Dysplasia Fabry Disease Facial Asymmetry/Hemihypertrophy Facial Palsy Facioaudiosymphalangism Syndrome F acio a uriculo v ertebral ( FAV ) Sequence F acio c utaneo s keletal ( FCS ) Syndrome Faciogenital Dysplasia Faciodigitogenital Syndrome Faciogenitopopliteal Syndrome (Popliteal Pterygium Syndrome) Faciopalatoosseous Syndrome Facioscapulohumeral Muscular Dystrophy (FSH, Landouzy-Dejerine Dystrophy) Factor XI Deficiency Fahr Disease (Basal Ganglia Calcification, Idiopathic; Cerebral Calcification, Nonarteriosclerotic; Ferrocalcinosis, Cerebrovascular; S trio p alli d odentate [ SPD ] Calcinosis) Fairbank's Disease Familial Atypical Mole-Malignant Melanoma Syndrome See Melanoma, Familial/Cutaneous Malignant Type
IRF6-Related Disorders Synonyms. popliteal pterygium syndrome; Van der Woude syndrome The physicalfeatures associated with popliteal pterygium syndrome include cleft lip http://www.bchealthguide.org/kbase/nord/nord1069.htm
Extractions: It is possible that the main title of the report IRF6-Related Disorders is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. IRF6-related disorders include a spectrum of disorders caused by abnormalities in the interferon regulatory factor 6 (IRF6) gene. Van der Woude syndrome (VWS) is at the mild end of the spectrum and popliteal pterygium syndrome (PPS) is at the severe end of the spectrum. Individuals with VWS can have lip pits alone, cleft lip or cleft palate alone, or a combination of these anomalies. The physical features associated with popliteal pterygium syndrome include cleft lip and/or cleft palate, lower lip pits, webbed skin (pterygium) on the backs of both legs (popliteal) and between the legs (intercrural), malformation and/or underdevelopment of the genitals, webbing or fusion of the fingers and/or toes (syndactyly), adhesion of upper and lower jaw and adhesion of upper and lower eyelids. A cone-shaped fold of skin on the nail of the big toe is a very distinctive finding in this condition. Children's Craniofacial Association
Popliteal Pterygium Syndrome popliteal pterygium syndrome. Cleft lip/palate, paramedian mucous cysts of the popliteal pterygium syndrome a clinical study of three families and http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=471
Extractions: This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Gorlin, R. J. Articles by Cervenka, J. Pediatrics, Feb 1968, 503-509, Vol 41, No. 2 RJ Gorlin, HO Sedano and J Cervenka Division of Oral Pathology, University of Minnesota School of Dentistry, Minneapolis, Minnesota 55455. ABSTRACT. The name of popliteal pterygium syndrome is suggested for a well defined complex that consists of popliteal pterygium (usually bilateral), intercrural pterygium, various digital anomalies that include hypoplasia or agenesis of digits, valgus or varus deformities of the feet and syndactyly
Extractions: This Article Abstract Full Text Full Text (PDF) Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Donnelly, L. F. Articles by Do, T. T. Lane F. Donnelly Kathleen H. Emery and Twee T. Do Department of Radiology, Children's Hospital Medical Center, 3333 Burnet Ave. Cincinnati, OH 45229-3039.
Extractions: For Researchers For Librarians Authors: Wong F.K. ; Gustafsson B. Source: Acta Odontologica Scandinavica , Volume 58, Number 2, 5 July 2000, pp. 85-88(4) Publisher: Taylor and Francis Ltd View Table of Contents full text options Free trial available! Abstract: The present study describes a Swedish family in which the mother and her son were affected with signs of popliteal pterygium syndrome (PPS, OMIM 119500). Both individuals had bilateral complete cleft lip and palate, oral synechiae, paramedian pits on the lower lip, toe syndactyly and a piece of triangular skin overgrowth on the great toes. The son also presented with soft tissue syndactyly of the 2nd and 3rd fingers. Although popliteal pterygium was not found, the above clinical features were diagnostic for PPS. Chromosomal abnormalities were not revealed in either case by cytogenetic analyses. A test for microdeletion in the VWS region at 1q32-q41 was performed in the family using 5 polymorphic microsatellite markers from the region. The affected son was found to be heterozygous for all 5 markers, suggesting that microdeletion at the VWS region was unlikely. The VWS locus, however, was not excluded by haplotype analysis of the family.
NORD - National Organization For Rare Disorders, Inc. Van der Woude syndrome; popliteal pterygium syndrome The physical featuresassociated with popliteal pterygium syndrome include cleft lip and/or cleft http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=IRF6-Related
119500 POPLITEAL PTERYGIUM SYNDROME; PPS (1995) described 2 families in which the popliteal pterygium syndrome occurred Hunter, A. The popliteal pterygium syndrome report of a new family and http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:119500] -e
%263650 POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE In addition to the lethal popliteal pterygium syndrome of Bartsocas and Papas, See 119500 for a dominant form of popliteal pterygium syndrome. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:263650] -e
Analysis Of Popliteal Pterygium Syndrome Disease mapped popliteal pterygium syndrome Chromosome 1 Genomic positionstartstop 223000001- Popliteal tw AND pterygium tw AND syndrome tw http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U53359
Complete List Of Candidates Associated To Popliteal Pterygium Syndrome Complete list of candidates associated to popliteal pterygium syndrome, G2D Home.The graph represents the BLASTX hits found in the region and the genes http://www.bork.embl-heidelberg.de/g2d/list_hits_disease.pl?U53359:Popliteal_pte
Extractions: @import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Letter Nature Genetics Shinji Kondo , Brian C. Schutte , Rebecca J. Richardson , Bryan C. Bjork , Alexandra S. Knight , Yoriko Watanabe , Emma Howard , Renata L.L. Ferreira de Lima , Sandra Daack-Hirsch , Achim Sander , Donna M. McDonald-McGinn , Elaine H. Zackai , Edward J. Lammer , Arthur S. Aylsworth , Holly H. Ardinger , Andrew C. Lidral , Barbara R. Pober , Lina Moreno , Mauricio Arcos-Burgos , Consuelo Valencia , Claude Houdayer , Michel Bahuau , Danilo Moretti-Ferreira , Antonio Richieri-Costa , Michael J. Dixon Department of Pediatrics, The University of Iowa, Iowa City, Iowa 52242, USA. Interdisciplinary PhD Program in Genetics, The University of Iowa, Iowa City, Iowa 52242, USA. School of Biological Sciences and Department of Dental Medicine and Surgery, University of Manchester, Oxford Road, Manchester, UK.
The Pit, The Cleft And The Web - Nature Genetics Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes NatureGenetics Letters (01 Oct 2002) Mapping of the second locus for the Van der http://www.nature.com/ng/journal/v32/n2/abs/ng1002-219.html
Extractions: @import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications News and Views Nature Genetics doi:10.1038/ng1002-219 Maximilian Muenke Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1852, USA. muenke@nih.gov Orofacial clefts (cleft lip and/or palate) are among the most common birth defects in humans, affecting up to 1 in 500 infants at birth. The cause of the most common syndromic clefting condition, Van der Woude syndrome, has now been identified as haploinsufficiency of the gene encoding interferon regulatory factor 6 ( ). Furthermore, dominant-negative mutations of lead to webbing of the skin in popliteal pterygium syndrome, demonstrating beyond doubt that these syndromes are allelic. MORE ARTICLES LIKE THIS
Extractions: Text Size A A A Front Page ... Genetic Disorders : Popliteal Pterygium Syndrome UF Scientist Finds Unexpected Link Between Cat And Human AIDS Viruses (September 9, 2005) full story Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005)
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: May 14, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: VWS, cleft lip syndrome, lip pit syndrome, cleft palate, dimpled papillae of the lip AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Gregory P Conners, MD, MPH, MBA , Chief of Pediatric Emergency Medicine; Vice Chair of Emergency Medicine, Associate Professor of Emergency Medicine and Pediatrics, Departments of Emergency Medicine and Pediatrics, University of Rochester School of Medicine and Dentistry Gregory P Conners, MD, MPH, MBA, is a member of the following medical societies: Ambulatory Pediatric Association American Academy of Clinical Toxicology American Academy of Pediatrics Society for Academic Emergency Medicine , and Society for Medical Decision Making Editor(s): Ian Krantz, MD
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: April 21, 2004 Rate this Article Email to a Colleague Synonyms and related keywords: arthrogryposis multiplex congenita, multiple congenital contractures, multiple congenital joint contractures, fetal akinesia, decreased fetal movements, development of extra connective tissue, fixation of the joint, joint fixation, scoliosis, limb dysfunction, joint deformity, limb malformations AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Harold Chen, MD, MS, FAAP, FACMG , Chief, Professor, Department of Pediatrics, Section of Perinatal Genetics, Louisiana State University Medical Center Harold Chen, MD, MS, FAAP, FACMG, is a member of the following medical societies: American Academy of Pediatrics American College of Medical Genetics American Medical Association American Society of Human Genetics , and Teratology Society Editor(s): James Bowman, MD
