21. Searchalot Directory For P Ovarian Syndrome (46); Polydystrophic Oligophrenia (4); Pompe Disease(4); popliteal pterygium syndrome (2); Porencephaly (4); Porphyrias http://www.searchalot.com/Top/Health/ConditionsandDiseases/P/

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22. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders Conditions and Diseases Genetic Disorders popliteal pterygium syndrome. Uncover resources and links to Web sites related to Conditions http://www.1uphealth.com/links/genetic-disorders-popliteal-pterygium-syndrome.ht

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Genetic Disorders : Popliteal Pterygium Syndrome Description See Related Categories Health: Conditions and Diseases: Rare Disorders Health: Consumer Support Groups: Facial Differences: Cleft Lip and Palate Sites National Library of Medicine Includes the synonyms of multiple pterygium syndrome, a summary and the major features. NORD - Popliteal Pterygium Syndrome Offers synonyms, a general discussion and further resources. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites.

23. 1Up Health > Health Links Directory > Conditions And Diseases: P 31) Polycystic Kidney (20) Polycystic Ovarian Syndrome (53) Polydystrophic Oligophrenia(4) Pompe Disease (5) popliteal pterygium syndrome (2) Porencephaly (4 http://www.1uphealth.com/links/conditions-and-diseases-p.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Conditions and Diseases : P Description Browse by Alphabets A B C D ... Z Categories Pain Pallister Killian Mosaic Syndrome Pallister-Hall Syndrome Pancreatic Cancer ... Pyromania Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory

24. Multiple Pterygium Syndrome Includes the synonyms of multiple pterygium syndrome, a summary and the major features.Category Health Conditions and Diseases popliteal pterygium syndrome...... pterygium universale. Summary, A rare syndrome of short stature, abnormal faciesand webbing of the neck, antecubital, digital, popliteal, and intercural areas. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome471.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome multiple pterygium syndrome Synonyms Escobar syndrome familial pterygium syndrome pterygium colli syndrome pterygium syndrome pterygium universale Summary A rare syndrome of short stature, abnormal facies and webbing of the neck, antecubital, digital, popliteal, and intercural areas. Joint contractures, vertebral fusion defects, and rocker-bottom feet are usually associated. Major Features Head and neck: Epicanthal folds and small mandible with pointed receding chin, long philtrum, and syngnathia. Ears: Low-set ears. Eyes: Downslanting palpebral fissures, blepharoptosis, and puffiness about the eyes in some cases. Mouth and oral structures: Downturned angles of the mouth, lip pits, occasional cleft palate, and spoonlike shape of the tongue (lingua cochlearis). Neck: Pterygia. Hand and foot: Soft tissue syndactyly of the fingers, flexion deformity of the fingers and thumbs, talipes calcaneovalgus, and rocker-bottom feet, Extremities: Popliteal pterygia

25. Detalj Sida - Odontologiska Institutionen - Karolinska Institutet - Annual Publi Original articles, popliteal pterygium syndrome in a Swedish familyclinical findingsand genetic analysis with the van der Woude syndrome locus at 1q32q41. http://fou.ofa.ki.se/annual/detail.asp?Id=203

26. Utskrift Sida - Odontologiska Institutionen - Karolinska Institutet - Annual Pub popliteal pterygium syndrome in a Swedish familyclinical findings andgenetic analysis with the van der Woude syndrome locus at 1q32q41. http://fou.ofa.ki.se/annual/detailx.asp?Id=203

27. WebGuest - Open Directory : Health : Conditions And Diseases : Genetic Disorders Personal Pages (12); Phenylketonuria@ (7); Polycystic Kidney@ (19);popliteal pterygium syndrome (2); Porphyrias@ (17); PraderWilli http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Genetic_D

Browse thru 1000's of books about health, mind and body: About Us Privacy Statement Acceptable Use Policy Legal Notices ... Contact Us the entire directory only in Top Health Conditions and Diseases : Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Acoustic Neuroma ... Zellweger Syndrome See also: Health: Conditions and Diseases: Rare Disorders Science: Biology: Genetics: Eukaryotic: Animal: Mammal: Human Sites: Gene Clinics *Cool Site* - Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. Dr. Greene's HouseCalls - A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. Genetic and Rare Conditions Site - Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. Genetic Disorders: The Links to Diet - Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis. Primary Ciliary Dyskinesia - Information on a rare congenital disease.

28. Directory :: Look.com popliteal pterygium syndrome (2) See Also. Sites. NORD Popliteal PterygiumSyndrome Offers synonyms, a general discussion and further resources. http://www.look.com/searchroute/directorysearch.asp?p=552717

29. Directory :: Look.com 31) Polycystic Kidney (20) Polycystic Ovarian Syndrome (46) Polydystrophic Oligophrenia(4) Pompe Disease (4) popliteal pterygium syndrome (2) Porencephaly (4 http://www.look.com/searchroute/directorysearch.asp?p=43358

30. Fung Ki Wong: Doktorsavhandling Från Karolinska Institutet featured. The presence of lip pits and a distinct toe malformationled to the diagnosis of popliteal pterygium syndrome (PPS). Our http://diss.kib.ki.se/2000/91-628-4035-5/

sök sök personal översikt OM KAROLINSKA INSTITUTET ... Info Doktorsavhandling vid Karolinska Institutet Wong, Fung Ki Application of genetic analyses in studies of syndromic and non-syndromic cleft lip and palate Måndagen den 13 mars 2000, kl. 9.00. Föreläsningssal 1, plan 4. Thesis Frame Original [PDF] Acrobat Reader ISBN: 91-628-4035-5 Diss: 00:55 Abstract: Linkage analysis is one of the first and essential steps in the localization of human disease genes. In this study, the method was first applied in mapping of the disease in two families with isolated hyperparathyroidism (FIHP) to the hyperparathyroidism-jaw tumor (HPT-JT) syndrome locus at 1q21-q32. The results suggest that a sunset of FlHP families are a variant of HPT-JT. Loss of heterozygosity at 1q21-q32 was found in tumors from a FIHP and a HPT-JT family, implying that the gene involved is a tumor suppressor gene (Paper I). Genetic analyses were applied to the studies of syndromic and non-syndromic cleft lip and palate. Van der Woude syndrome (VWS), the most common form of syndromic cleft, has been mapped to 1q32-q41. Two Swedish and three Finnish families were mapped to 1q32-q41 and the critical region was tentatively refined to 130-kb by observing recombination and shared haplotypes in the families. Microdeletion of the VWS region was unlikely. Two Finnish families were unlinked to the VWS region in 1q thus providing the first evidence of genetic heterogeneity in VWS. All families were tested for the possible modifying effect on the cleft palate phenotype from a locus in 17p11.2-p11.1. Linkage was clearly excluded, meaning that the 17p locus is not a major modifying gene (Papers II, III).

31. Wide Smiles Gallery: Daniel Alexander Daniel also has popliteal pterygium syndrome*. Daniel's pictures are presentedto you by his parents, Tracie Ken. 5 weeks old. Daniel before lip repair. http://www.widesmiles.org/gallery/daniel_a/

Daniel Alexander Daniel was born on March 31, 2000 with a bilateral cleft lip (complete cleft lip on the left; incomplete on the right) and palate. Daniel also has popliteal pterygium syndrome* 5 weeks old. Daniel before lip repair. Daniel after lip repair surgery. (3-1/2 months old) Daniel's family includes mom (Tracie), Dad (Ken) and big sister Emily. This picture was taken right after Daniel's birth. *Here are the details in a nutshell: Popliteal Pterygium Syndrome is an autosomal dominant genetic disorder occurring in approximately 1 out of every 300,000 births. It is extremely rare. The most common birth defects associated with this syndrome are: (please forgive me if these don't make a whole lot of sense, I'm translating medical terminology and am not sure how good I'm doing) Cleft lip and palate, salivary lip pits in the lower lip (Daniel did have these too, they were removed at the time his lip was repaired) Intraoral tissue bands - bands of skin which inhibit full opening of the mouth (Daniel had these, they resolved themselves a few days after birth when he opened his mouth for one LUSTY cry) Fused digits (fingers or toes - Daniel's small toes are all fused together) Digital Reduction Defects [missing fingers/toes or fingers or toes that are in place but completely dysfunctional - Daniel's big toes on both feet are dysfunctional, and one - or both, (I'm shooting for just one because I think his right toe will be OK) will need to be removed]

32. Nature Publishing Group Furthermore, dominantnegative mutations of IRF6 lead to webbing of the skin inpopliteal pterygium syndrome, demonstrating beyond doubt that these syndromes http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v32/n2/full/ng1002-2

33. Nature Reviews Genetics - Focus On Human Genetics And Disease Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes S. Kondoet al. in GATA1 in the megakaryoblastic leukemia of Down syndrome J. Wechsler http://www.nature.com/nrg/focus/humgen/research_mf.html

WEB FOCUS Human Genetics and Disease Research from the Nature Publishing Group October 2002 Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease M. M. Carrasquillo et al Nature Genetics Regulation of insulin action and pancreatic b -cell function by mutated alleles of the gene encoding forkhead transcription factor Foxo1 J. Nakae et al Nature Genetics Evidence for two apoptotic pathways in light-induced retinal degeneration W, Hao et al Nature Genetics Mutation of TDP1, encoding a topoisomerase Idependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy H, Takashima et al Nature Genetics Mutations in cause Van der Woude and popliteal pterygium syndromes S. Kondo et al Nature Genetics The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin G. Mollet et al Nature Genetics Bi-allelic inactivation of TCF1 in hepatic adenomas O. Bluteau et al Nature Genetics September 2002 Acquired mutations in in the megakaryoblastic leukemia of Down syndrome J. Wechsler

34. Indian Pediatrics - Editorial This syndrome must be differentiated from the popliteal pterygium syndrome, whichis autosomal dominant with contractures limited to the knee and repercussions http://www.indianpediatrics.net/feb2001/feb-194-197.htm

Home Past Issue About IP About IAP ... Subscription Case Reports Indian Pediatrics 2001; 38: 194-1 Chromosomes 6/7 Translocation t(6:7)(q15;32) Presenting as Multiple Pterygium Syndrome Madhuri V. Bose A.* Danda S.** Shivakumar S.*** Kirubakaran C.**** Seshadari M.S.** From the Departments of Orthopedics, Community Health*, Endocrinology**, Hematology*** and Child Health****, Christian Medical College and Hospital, Vellore 632 004, South India. Correspondence to: Dr. V. Madhuri, Professor, Department of Orthopedics Unit II, Christian Medical College and Hospital, Vellore 632 004, South India. E-Mail madhuriwalter@cmcvellore.ac.in Manuscript received: June 6, 2000; Initial review completed: June 29, 2000; Revision accepted: August 7, 2000 Multiple pterygium (Escobar) syndrome is a rare, autosomal recessive inherited disorder manifested by growth retardation, facial and genital anomalies, and widespread musculo-skeletal deformities. Pterygia-cutaneous webbing usually associated with joint contractures are – the predominant feature of the syndrome(12). In the indexed Indian literature there is only one case report from Turkey of multiple pterygium syndrome in a female child with bilateral optic atrophy(3). In this report we present the clinical, radiographic and laboratory data of a female child morphologically similar to multiple pterygium syndrome with previously unreported features.

35. Popliteal Pterygium Syndrome Website Results :: Linkspider UK popliteal pterygium syndrome Websites from the Linkspider UK. Popliteal PterygiumSyndrome Directory. popliteal pterygium syndrome Websites from Linkspider UK. http://www.linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/Poplit

Popliteal Pterygium Syndrome Websites from Linkspider UK Keyword: Popliteal Pterygium Syndrome Linkspider UK Directory Popliteal Pterygium Syndrome Search for Directory Tree: Top Health Conditions and Diseases Genetic Disorders : Popliteal Pterygium Syndrome (2) Add URL Advertise Here! Personalize Amazon ... Weather See Also: Health: Conditions and Diseases: Rare Disorders Health: Consumer Support Groups: Facial Differences: Cleft Lip and Palate NORD - Popliteal Pterygium Syndrome - Offers synonyms, a general discussion and further resources. National Library of Medicine - Includes the synonyms of multiple pterygium syndrome, a summary and the major features.

36. Listings Of The World Health Conditions And Diseases Genetic Listings World Health Conditions and Diseases Genetic Disorderspopliteal pterygium syndrome. Listings World, http://listingsworld.com/Health/Conditions_and_Diseases/Genetic_Disorders/Poplit

37. Listings Of The World Health Conditions And Diseases Genetic Syndrome (6) Organizations (8) Pallister Killian Mosaic Syndrome (4) PallisterHallSyndrome (7) Personal Pages (12) popliteal pterygium syndrome (3) Prader http://listingsworld.com/Health/Conditions_and_Diseases/Genetic_Disorders/

38. UNSW Embryology-OMIM Syndactyly List 175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS 146510 PALLISTERHALL SYNDROME;PHS *263650 popliteal pterygium syndrome, LETHAL TYPE *225060 ECTODERMAL http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/skmus/OMIM-syndactyly_list.ht

UNSW Embryology MUSCULOSKELETAL DEVELOPMENT Embryology Home Page Select Entries from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Internet access computers can see the full description of the abnormality from the links below. Back to UNSW Embryology-Musculoskeletal Notes 169 entries found, searching for " syndactyly SYNDACTYLY, TYPE III SYNDACTYLY, TYPE IV SYNDACTYLY, TYPE V CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS SYNDACTYLY, TYPE I SYNDACTYLY, TYPE II ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, HAND AND FOOT DEFORMITY, AND MENTAL RETARDATION SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION CENANI SYNDACTYLISM SCLEROSTEOSIS SAETHRE-CHOTZEN SYNDROME; SCS SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY ANOPHTHALMOS WITH LIMB ANOMALIES POLAND SYNDROME SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME LONG QT SYNDROME WITH SYNDACTYLY APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV

39. Mioti: Medical Condition NORD popliteal pterygium syndrome. Information from the National Organizationfor Rare Disorders. OMIM Cleft Lip/PalateEctodermal Dysplasia Syndrome. http://www.mioti.com/cat/condition/condition.asp?Cat=CleftPalate

40. SpringerLink: European Journal Of Plastic Surgery - Abstract Volume 23 Issue 7 ( case report popliteal pterygium syndrome associated with sacrococcygealagenesis. RK Gang, AR Lari. Key words popliteal pterygium syndrome. http://link.springer-ny.com/link/service/journals/00238/bibs/0023007/00230383.ht

European Journal of Plastic Surgery ISSN: 0930-343X (printed version) ISSN: 1435-0130 (electronic version) Table of Contents Abstract Volume 23 Issue 7 (2000) pp 383-385 case report : Popliteal pterygium syndrome associated with sacrococcygeal agenesis R. K. Gang, A. R. Lari AL-Babtain Centre for Plastic Surgery and Burns, Ibn Sina Hospital, P.O. Box 366, Salmiya, Kuwait e-mail: gang@kma.org.kw Tel.: +965-5612474, Fax: +965-5612474 Received: 25 August 1999 / Accepted: 17 January 2000 Abstract A case of popliteal pterygium syndrome (PPS) associated with total sacrococcygeal and partial lumbar vertebrae agenesis is described. This is the first report of this combination. The case was sporadic; both legs were involved and were treated surgically. The possible etiological factors, various clinical presentations and available methods of treatment are discussed. Key words Popliteal pterygium syndrome Article in PDF format (53 KB) Online publication: October 17, 2000 SpringerLink Helpdesk

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