Lowe-Kohn-Cohen syndrome
Lowe-Kohn-Cohen syndrome
Definition
Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.
Also known as deafness-nephritis-ano-rectal malformation syndrome — per MONDO