Definition:
Bhaskar Jagannathan syndrome is an extremely rare genetic disorder that is characterized by the clustering of features like aminoaciduria, arachnodactyly, cerebellar ataxia, congenital cataracts, and delayed developmental milestones. It is a very rare syndrome characterized primarily by long, thin fingers, cataracts that form during infancy, amino acids in the urine, incoordination and delayed development.
When the affected person was first reported, the author raised the question if it could be a new cerebro-oculo-renal syndrome.
Symptoms and Signs:
People affected with Bhaskar Jagannathan syndrome display some delayed developmental milestones and may suffer from incoordination. Patients may also have poor balance, and possess long and thin fingers. Infants with the disease initially form cataracts early on. They may also suffer from ataxia, which is a neurological sign and symptom made up of gross incoordination of muscle movements and is an aspecific clinical manifestation (implies dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum). People affected with the Bhaskar Jagannathan syndrome have an increased level of amino acids in the urine.
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bhaskarjagannathansyndrome
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