Pena Shokeir syndrome, type 1: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems. More detailed information about the symptoms, causes, and treatments of Pena Shokeir syndrome, type 1 is available below.
See full list of 37 symptoms of Pena Shokeir syndrome, type 1
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Pena Shokeir syndrome, type 1 is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Pena Shokeir syndrome, type 1, or a subtype of Pena Shokeir syndrome, type 1,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Pena Shokeir syndrome, type 1 as a "rare disease".
Source - Orphanet
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