Hirschsprung disease

Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

Short humerus

Underdevelopment of the humerus.


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PMID (PMCID)
24715367
 MALE Infant, Newborn
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.
Isidor B, Lefebvre T, Le Vaillant C, Caillaud G, Faivre L, Jossic F, Joubert M, Winer N, Le Caignec C, Borck G, Pelet A, Amiel J, Toutain A, Ronce N, Raynaud M, Verloes A, David A.
Am J Med Genet A. 2014;164A(7):1821-5.
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.