Berdon syndrome has an autosomal recessive pattern of inheritance.
Specialty
Medical genetics
Berdon syndrome, also called Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome),[1] is a generally fatal[2] autosomal recessive[3] genetic disorder affecting the bladder, colon, and intestines.
It is more prevalent in females (7 females to 3 males)[2] 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[4] 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.
^Online Mendelian Inheritance in Man (OMIM): 249210
^Annerén, Göran; Meurling, Staffan; Olsen, Leif (1991). "Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: Clinical reports and review of the literature". American Journal of Medical Genetics. 41 (2): 251–4. doi:10.1002/ajmg.1320410224. PMID 1785644.
^Berdon, WE; Baker, DH; Blanc, WA; Gay, B; Santulli, TV; Donovan, C (1976). "Megacystis-microcolon-intestinal hypoperistalsis syndrome: A new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls". American Journal of Roentgenology. 126 (5): 957–64. doi:10.2214/ajr.126.5.957. PMID 178239.
Berdonsyndrome, also called Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome), is a generally fatal autosomal recessive genetic...
Teele, Rita L.; Clarkson, Patricia M.; Berdon, Walter E. (2010). "John C. P. Williams of Williams-Beuren syndrome". Pediatric Radiology. 41 (2): 267–9....
Rothenberg AB, Berdon WE, D'Angio GJ, Yamashiro DJ, Cowles RA (July 2009). "The association between neuroblastoma and opsoclonus-myoclonus syndrome: a historical...
may refer to: Megacystis-microcolon-intestinal hypoperistalsis syndrome or Berdonsyndrome, a genetic disorder Manmohan Memorial Institute of Health Sciences...
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megacystis microcolon intestinal hypoperistalsis (MMIH) syndrome (also known as Berdonsyndrome), a congenital smooth muscle disorder which affected her...
Rothenberg AB, Berdon WE, D'Angio GJ, Yamashiro DJ, Cowles RA (July 2009). "The association between neuroblastoma and opsoclonus-myoclonus syndrome: a historical...
Teele, Rita L.; Clarkson, Patricia M.; Berdon, Walter E. (2010). "John C. P. Williams of Williams-Beuren syndrome". Pediatric Radiology. 41 (2): 267–269...
; Berdon, W. E.; Baker, D. H.; Wigger, H. J.; Blanc, W. A. (December 1977). "Diagnosis oligohydramnios-related pulmonary hypoplasia (Potter syndrome):...
Dnevnik (in Slovenian). Archived from the original on November 15, 2022. Sven Berdon, Blaž Laterner and Uroš Praš (May 31, 2006). "Metod Trobec si je sam skrajšal...
Anil Adhikari, 70, Indian politician, MLA (since 2011), cancer. Robert I. Berdon, 89, American justice, Associate Justice of the Connecticut Supreme Court...
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