| dbo:abstract |
متلازمة بيردون (بالإنجليزية: Berdon syndrome)؛ وتعرف أيضا باسم متلازمة ، ، انكماش القولون،(بالإنجليزية: Megacystis-microcolon-intestinal hypoperistalsis syndrome) وتختصر (MMIH)، تصيب الأطفال الرضّع والمواليد الجدد، وتكون سائدة أكثر عند الإناث. (ar) Das Megazystis-Mikrokolon-intestinale Hypoperistaltik-Syndrom (MMIHS) ist eine sehr seltene angeborene Erkrankung mit den namensgebenden Hauptmerkmalen zu große Harnblase (Megazystis), Mikrokolon, verminderte bis fehlende Peristaltik (Hypoperistaltik) des Darmes. S. 461 Das Syndrom wird von der Datenbank OMIM in Familiäre viszerale Myopathie eingegliedert. Synonym: Berdon-Syndrom Die Namensbezeichnung bezieht sich auf den Erstautor der Erstbeschreibung aus dem Jahre 1976 durch den US-amerikanischen Kinderradiologen W. E. Berdon und Mitarbeiter. (de) Berdon syndrome, also called Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome), is an autosomal recessive fatal genetic disorder affecting newborns. In a 2011 study of 227 children with the syndrome, "the oldest survivor [was] 24 years old." The Ann Arbor News reported a five year old survivor at the end of 2015. It is more prevalent in females (7 females to 3 males) and is characterized by constipation and urinary retention, microcolon, giant bladder (megacystis), intestinal hypoperistalsis, hydronephrosis and dilated small bowel. The pathological findings consist of an abundance of ganglion cells in both dilated and narrow areas of the intestine. It is a familial disturbance of unknown cause. Walter Berdon et al. in 1976 first described the condition in five female infants, two of whom were sisters. All had marked dilatation of the bladder and some had hydronephrosis and the external appearance of prune belly. The infants also had microcolon and dilated small intestines. (en) |
| dbo:diseasesDB |
32131 |
| dbo:omim |
249210 (xsd:integer) |
| dbo:thumbnail |
wiki-commons:Special:FilePath/Autorecessive.svg?width=300 |
| dbo:wikiPageID |
1181346 (xsd:integer) |
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7361 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID |
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| dbo:wikiPageWikiLink |
dbr:Prune_belly_syndrome dbr:MYLK dbr:The_Ann_Arbor_News dbr:Urinary_bladder dbr:Urinary_catheterisation dbr:Inheritance dbr:Genetic_disorder dbr:Constipation dbc:Autosomal_recessive_disorders dbr:MYH11 dbr:Parenteral_nutrition dbr:Autosomal_recessive dbr:Ganglion dbc:Syndromes_affecting_the_gastrointestinal_tract dbc:Syndromes_affecting_the_kidneys dbr:Urinary_retention dbr:Intestine_transplantation dbr:Hydronephrosis dbr:ACTG2 dbc:Genetic_disorders_with_OMIM_but_no_gene dbr:Small_intestines dbr:Dominance_(genetics) dbr:Autosome dbr:Ileostomy dbr:Recessive_gene dbr:Radiology dbr:Urinary_diversion dbr:Intestine dbr:Megacystis dbr:Bowel dbr:LMOD1 |
| dbp:caption |
Berdon syndrome has an autosomal recessive pattern of inheritance. (en) |
| dbp:diseasesdb |
32131 (xsd:integer) |
| dbp:name |
Berdon syndrome (en) |
| dbp:omim |
249210 (xsd:integer) |
| dbp:synonyms |
Megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH syndrome, MMIHS (en) |
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dbt:Citation_needed dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:OMIM dbt:RareDiseases |
| dcterms:subject |
dbc:Autosomal_recessive_disorders dbc:Syndromes_affecting_the_gastrointestinal_tract dbc:Syndromes_affecting_the_kidneys dbc:Genetic_disorders_with_OMIM_but_no_gene |
| gold:hypernym |
dbr:Disorder |
| rdf:type |
owl:Thing wikidata:Q12136 yago:WikicatAutosomalRecessiveDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisordersWithOMIMButNoGene dbo:Disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes umbel-rc:AilmentCondition |
| rdfs:comment |
متلازمة بيردون (بالإنجليزية: Berdon syndrome)؛ وتعرف أيضا باسم متلازمة ، ، انكماش القولون،(بالإنجليزية: Megacystis-microcolon-intestinal hypoperistalsis syndrome) وتختصر (MMIH)، تصيب الأطفال الرضّع والمواليد الجدد، وتكون سائدة أكثر عند الإناث. (ar) Das Megazystis-Mikrokolon-intestinale Hypoperistaltik-Syndrom (MMIHS) ist eine sehr seltene angeborene Erkrankung mit den namensgebenden Hauptmerkmalen zu große Harnblase (Megazystis), Mikrokolon, verminderte bis fehlende Peristaltik (Hypoperistaltik) des Darmes. S. 461 Das Syndrom wird von der Datenbank OMIM in Familiäre viszerale Myopathie eingegliedert. Synonym: Berdon-Syndrom Die Namensbezeichnung bezieht sich auf den Erstautor der Erstbeschreibung aus dem Jahre 1976 durch den US-amerikanischen Kinderradiologen W. E. Berdon und Mitarbeiter. (de) Berdon syndrome, also called Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome), is an autosomal recessive fatal genetic disorder affecting newborns. In a 2011 study of 227 children with the syndrome, "the oldest survivor [was] 24 years old." The Ann Arbor News reported a five year old survivor at the end of 2015. (en) |
| rdfs:label |
Berdon syndrome (en) متلازمة بيردون (ar) Megazystis-Mikrokolon-intestinale Hypoperistaltik-Syndrom (de) |
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freebase:Berdon syndrome yago-res:Berdon syndrome wikidata:Berdon syndrome dbpedia-ar:Berdon syndrome dbpedia-de:Berdon syndrome https://global.dbpedia.org/id/4XzJf |
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wikipedia-en:Berdon_syndrome?oldid=1017834559&ns=0 |
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Berdon syndrome (en) |
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dbr:List_of_diseases_(B) dbr:List_of_eponymous_diseases dbr:Megacystis_(fetal) dbr:Alessia_di_Matteo dbr:List_of_syndromes dbr:Walter_Berdon dbr:Berdon dbr:Megacystis-microcolon-intestinal_hypoperistalsis_syndrome dbr:Megacystis_microcolon_intestinal_hypoperistalsis_syndrome dbr:MMIH_syndrome |
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wikipedia-en:Berdon_syndrome |
