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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
Extractions: 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
Extractions: See also: 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.
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
Extractions: 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).
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/
Extractions: 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]
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
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
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
Extractions: 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; 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.
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
Extractions: 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.
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
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/
Extractions: 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
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
Extractions: 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
