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123 Possible Causes for Autosomal Dominant, Multiple Colonic Polyps, Pediatric Disorder

  • Gardner Syndrome

    One child had a subcutaneous fibroma, and another had multiple colonic polyps and exostoses characteristic of Gardner syndrome.[] Affiliation: Discipline of Pediatric Otorhinolaryngology, Department of Otorhinolaryngology and Human Communication Disorders, EPM – UNIFESP[] Gardner syndrome, a variant of familial adenomatous polyposis, is an autosomal dominant genetic disease characterized by the combined presence of multiple intestinal polyps[]

  • Juvenile Polyp

    She was suspected to have the multiple polyps, and total colonoscopy was performed. No other polyps were detected in the colon.[] Wireless capsule endoscopy for oscure small-bowel disorders: Final results of the first pediatric controlled trial . Clin Gastroenterol Hepatol 2005; 3 :264–270. 21.[] An autosomal dominant condition usually associated with mutations in 2 genes – BMPRIA (bone morphogenic protein receptor, type 1A) and SMAD4 (mothers against decapentaplegic[]

  • Familial Adenomatous Polyposis

    Once 20 or more polyps and/or multiple higher risk polyps are found, removal of the colon is recommended in order to prevent colon cancer.[] Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr. 1975 Jan. 86(1):84-8. [Medline]. Bisgaard ML, Fenger K, Bülow S, Niebuhr E, Mohr J.[] English familial adenomatous polyposis autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the[]

  • Peutz-Jeghers Syndrome

    Gastroscopy revealed multiple dimunitive polyps in stomach and pedunculated polyp in duodenum. Colonoscopy revealed multiple colonic polyps.[] […] risks separately, with the latter disorders discussed in the article by Tabori and colleagues in this CCR Pediatric Oncology Series ( 1 ).[] From Wikidata Jump to navigation Jump to search autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal[]

  • Hereditary Hemorrhagic Telangiectasia

    Multiple genes have been identified as having involvement in this disease, including a gene that also causes polyps in the colon or, potentially, colon cancer.[] The monoclonal antibody bevacizumab, seems to be a good option in this disorder.[] BACKGROUND AND OBJECTIVE: Pulmonary arterial hypertension (PAH) is a rare disease that could be inherited with an autosomal dominant pattern.[]

  • Tuberous Sclerosis

    Multiple small polyps were found scattered through the left colon and rectum.[] Early diagnosis may reduce morbidity and mortality. tuberous sclerosis complex diagnosis epilepsy seizures neurocutaneous disorders Accepted September 20, 2010.[] In familial cases, TSC is an autosomal dominant disorder, which means that the disorder can be transmitted directly from parent to child.[]

  • Juvenile Polyposis Syndrome

    He was initially diagnosed with Juvenile polyposis syndrome (JPS) at age four after presenting with hematochezia due to multiple colonic juvenile polyps.[] Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr. 1975 Jan. 86(1):84-8. [Medline]. Bisgaard ML, Fenger K, Bülow S, Niebuhr E, Mohr J.[] OBJECTIVE: Juvenile polyposis syndrome is a rare autosomal dominant disorder with incomplete penetrance.[]

  • Selective IgA Immunodeficiency

    Hamoudi et al.[13] reported a girl who developed multiple adenomatous polyps in her colon (1 malignant) at the age of 10, after which she developed over a period of 8 years[] Source: Pediatrics, 1966 and Immunologic disorders in infants and children , by E. Richard Stiehm, Hans D. Ochs, Jerry A. Winkelstein.[] It may be inherited as an autosomal dominant or autosomal recessive trait. It is usually found in people of European origin.[]

  • MUTYH-Related Attenuated Familial Adenomatous Polyposis

    It may also be considered if someone has a brother or sister with multiple colon polyps, but there is no history of colon problems in previous generations.[] J Pediatr Hematol Oncol 1998; 20(3): 274-278. 30. Gomez Garcia EB, Knoers NV: Gardner’s syndrome (familial adenomatous polyposis): a cilia-related disorder.[] Both FAP and AFAP are inherited in an autosomal dominant manner. MYH -associated polyposis (MAP) is caused by mutations in the mutY homolog ( MYH ) gene.[]

  • Cronkhite-Canada Syndrome

    We herein present a 66-year-old-male patient with Cronkhite-Canada syndrome who had a carcinoma of the sigmoid colon along with multiple colonic polyps, which included juvenile-type[] Adds five new chapters including "Screening and Surveillance of the GI Tract", "Congenital and Developmental Disorders of the GI Tract", "Pediatric Enteropathies of the GI[] dominant, 75% are new mutations without family history The gastrointestinal polyps are largely indistinguishable Cronkhite-Canada Syndrome Cowden Disease Hair, nail, skin[]

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