Lowe-Kohn-Cohen syndrome
Synonyms: Deafness-nephritis-ano-rectal malformation syndrome | Hearing loss-nephritis-ano-rectal malformation 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Lowe-Kohn-Cohen syndrome?
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