Rare Disease Report

What is Lowe Syndrome?

MARCH 30, 2017
Robert Nussbaum, MD



Robert Nussbaum, MD describes Lowe Syndrome, a genetic disorder that impacts multiple organs with severe behavioral and physical outcomes.

Lowe syndrome is also referred to as oculocerebrorenal syndrome which refers to main organs affected. The rare x-linked disease is characterized by congenetital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoacideuria, and proteinuria.

As Dr Nussbaum explains in this video, treatment options are very limited.

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