Megacystis-microcolon-intestinal hypoperistalsis syndrome

Also known as: MMIHS

Congenital bladder distension with intestinal dysmotility.

Medical specialty: Urology
Subspecialty: Urology / Pediatric urology
Sex & age distribution: Male: affected; Female: affected, female predominance; Children: yes, neonatal
Gene(s) involved: ACTG2, LMOD1, MYH11, MYLK

Etiology & mechanism

Visceral smooth muscle failure.

Gene(s) involved (4)

ACTG2LMOD1MYH11MYLK

Symptoms & signs (5)

hydronephrosisintestinal hypoperistalsismegacystismicrocolonvomiting

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.