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  • A rare genetic brachydactyly syndrome with the association of brachydactyly type E and hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and if untreated, most patients will have had a stroke by the age of 50.
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