Brachydactyly-arterial hypertension syndrome

Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with 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.

Also known as: Bilginturan brachydactyly, Bilginturan syndrome, brachydactyly type E, with short stature and hypertension, HTNB, brachydactyly type E with short stature and hypertension, brachydactyly with hypertension, brachydactyly, type E, with short stature and hypertension, hypertension and brachydactyly syndrome

1 clinical trial for this condition and its sub-types, 0 tagged with Brachydactyly-arterial hypertension syndrome itself.