Rare Undiagnosed Neurological Disorders

Rare Undiagnosed Neurological Disorders

BridgeMar Syndrome

BridgeMar Syndrome is a unique and severe neurodegenerative disorder first observed in affected sisters by Dr. John Optiz. The genetic etiology of BridgeMar Syndrome remains unknown, but autosomal recessive inheritance is suspected. Parents are nonconsanguinous (unrelated) and have one unaffected child, a son. Although we suspect the disorder is inherited, the exact cause of the disorder remains unknown.