hypertension and brachydactyly syndrome

A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increas

A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2.

Signs and symptoms

• Short stature
• Hypertension
• Type E brachydactyly
• Short metacarpal
• Short phalanx of finger
• Cone-shaped epiphysis

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