Lowe-Kohn-Cohen syndrome
ORPHA:2408· ICD-10 Q87.8
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.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal