IllnessMegacystis, MMIHS; differential diagnostics

NGS +

[Sanger]

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a disorder of the smooth muscles of the bladder and the bowel. It is characterized by impaired muscle contractions for peristalsis and bladder emptying. Affected fetuses exhibit megacystis and a microcolon with lifelong pseudoobstruction of the bowel persistence and requirement for a urinary catheter. Other features include bowel malrotation and dilatation problems of the kidneys and ureters. Life expectancy is shortened, often due to malnutrition, sepsis or multiple organ failure. MMIHS is inherited in an autosomal dominant manner with ACGT2 gene mutations and in rarer cases in an autosomal recessive manner due to mutations in other genes. The DNA diagnostic yield is approximately 50%. Therefore, an inconspicuous molecular genetic result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK540960/

doi: 10.1016/j.ajhg.2019.03.023.

• Alias: Megacystis-Microcolon-Intestinal Hypoperistalsis syndrome [MMIHS]
• Alias: Megaduodenum and/or megacystis
• Allelic: ADULT syndrome (TP63)
• Allelic: Aortic aneurysm, familial thoracic 4 (MYH11)
• Allelic: Aortic aneurysm, familial thoracic 6 (ACTA2)
• Allelic: Aortic aneurysm, familial thoracic 7 (MYLK)
• Allelic: Cardiac valvular dysplasia, XL (FLNA)
• Allelic: Congenital short bowel syndrome (FLNA)
• Allelic: FG syndrome 2 (FLNA)
• Allelic: Frontometaphyseal dysplasia 1 (FLNA)
• Allelic: Hay-Wells syndrome (TP63)
• Allelic: Heterotopia, periventricular, 1 (FLNA)
• Allelic: Limb-mammary syndrome (TP63)
• Allelic: Melnick-Needles syndrome (FLNA)
• Allelic: Moyamoya disease 5 (ACTA2)
• Allelic: Orofacial cleft 8 (TP63)
• Allelic: Otopalatodigital syndrome, type I (FLNA)
• Allelic: Otopalatodigital syndrome, type II (FLNA)
• Allelic: Rapp-Hodgkin syndrome (TP63)
• Allelic: Split-hand/foot malformation 4 (TP63)
• Allelic: Terminal osseous dysplasia (FLNA)
• Ectrodactyly, ectodermal dysplasia + cleft lip/palate syndrome 3 (TP63)
• Intestinal pseudoobstruction, neuronal (FLNA)
• MMIHS/Berdon syndrome (ACTG2)
• Megabladder, congenital (MYOCD)
• Megacystis-microcolon-intestinal hypoperistalsis syndrome (MYLK)
• Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MYH11)
• Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 (LMOD1)
• Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 (MYL9)
• Multisystemic smooth muscle dysfunction syndrome (ACTA2)
• Prune belli syndrome (CHRM3)
• Visceral myopathy (ACTG2)