Back متلازمة بيردون Arabic Megazystis-Mikrokolon-intestinale Hypoperistaltik-Syndrom German Sindrome di Berdon Italian
| Berdon syndrome | |
|---|---|
| Other names | Megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH syndrome, MMIHS |
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| 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
- ^ a b Gosemann, Jan-Hendrik; Puri, Prem (2011). "Megacystis microcolon intestinal hypoperistalsis syndrome: Systematic review of outcome". Pediatric Surgery International. 27 (10): 1041–6. doi:10.1007/s00383-011-2954-9. PMID 21792650. S2CID 27499683.
- ^ 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.