Hypertension and brachydactyly syndrome (HTNB), also known as Bilginturan syndrome and brachydactyly type E among others, is a very rare genetic disorder. It was first reported in 1973 by N. Bilginturan et al. The estimated prevalence is less than 1 out of 1,000,000.
Symptoms The disorder is characterized by:
severe salt-independent but age-dependent hypertension brachydactyly malformations of the hands and fingers increased fibroblast growth rate neurovascular contact at the rostral-ventrolateral medulla altered baroreflex blood pressure regulation death from stroke before age 50 years when untreated
Genetics The disorder is thought to be related to mutations in the PDE3A gene.
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