Hypertension and brachydactyly syndrome

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.

References

External links