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.