Lowe-Kohn-Cohen syndrome

Lowe-Kohn-Cohen syndrome is an extremely rare condition that affects the development of the anal and rectal region. It is characterized by an imperforate anus, a closed ano-perineal fistula, and the presence of a preauricular skin tag. The syndrome is noted for the absence of renal abnormalities and pre-axial limb deformities. The condition was originally described in 1983 and is also known by several other names such as deafness-nephritis-ano-rectal malformation syndrome and dominant ano-rectal malformation. Since its initial description, there have been no further detailed reports in the literature, which suggests that information about this syndrome is limited.

People with Lowe-Kohn-Cohen syndrome typically present with an imperforate anus, a closed ano-perineal fistula, and a preauricular skin tag. Notably, they do not show renal abnormalities or pre-axial limb deformities, which distinguishes this syndrome from similar disorders.

The cause of Lowe-Kohn-Cohen syndrome is currently not well understood. There is no information regarding specific genes or clear genetic causes, and known genes associated with this condition have not been identified. This condition was described many years ago, and detailed studies on its causes or risk factors are very limited.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Since the syndrome was first described in 1983, there have been no further reports or detailed descriptions in the literature. This indicates that research on Lowe-Kohn-Cohen syndrome is very limited.