Brachydactyly-arterial hypertension syndrome

Brachydactyly-arterial hypertension syndrome, also known as bilginturan brachydactyly or brachydactyly type E with short stature and hypertension, is a rare genetic disorder characterized by the combination of brachydactyly type E (shortening of the metacarpals and metatarsals, resulting in abnormally short fingers and toes) and early-onset arterial hypertension. The condition primarily affects the skeletal and cardiovascular systems. It was first described in a large Turkish kindred and has since been identified in additional families worldwide. The skeletal features are typically present from birth or early childhood and include shortened fourth and fifth metacarpals, short phalanges, and short stature. Arterial hypertension usually develops during childhood or adolescence and can be severe if left untreated. The hypertension in this syndrome is not secondary to renal artery abnormalities but appears to be related to increased peripheral vascular resistance, possibly due to vascular smooth muscle abnormalities. Some patients may also exhibit neurovascular anomalies, including abnormal loops of posterior inferior cerebellar arteries and other vascular tortuosities. The syndrome is caused by mutations in the PDE3A gene on chromosome 12p12.2-p11.2, or by chromosomal rearrangements affecting this region. Treatment focuses on managing hypertension with standard antihypertensive medications, though the blood pressure may be difficult to control in some patients. Regular cardiovascular monitoring is essential. There is no specific treatment for the skeletal manifestations, though orthopedic evaluation may be warranted. Genetic counseling is recommended for affected families given the autosomal dominant inheritance pattern.

Common questions about Brachydactyly-arterial hypertension syndrome