/brachydactyly-arterial hypertension syndrome

brachydactyly-arterial hypertension syndrome

Rare Disease

MONDO:0007211

Also Known As

Bilginturan brachydactylyBilginturan syndromebrachydactyly type E, with short stature and hypertensionHTNBbrachydactyly type E with short stature and hypertensionbrachydactyly with hypertensionbrachydactyly, type E, with short stature and hypertensionhypertension and brachydactyly syndrome

Definition

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.