Lowe-Kohn-Cohen syndrome
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
Lowe Kohn Cohen syndrome
related
deafness - nephritis - ano-rectal malformation
related
deafness nephritis anorectal malformation
related
deafness-nephritis-ano-rectal malformation syndrome
exact
dominant ano-rectal malformation, nephritis and nerve-deafness
related