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Lowe-Kohn-Cohen syndrome
rareLowe-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.
- Identifiers
- MONDO:0016568 Orphanet:2408
- Also known as
- deafness - nephritis - ano-rectal malformation · deafness nephritis anorectal malformation · deafness-nephritis-ano-rectal malformation syndrome · dominant ano-rectal malformation, nephritis and nerve-deafness · Lowe Kohn Cohen syndrome
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