Hypertension and brachydactyly syndrome
Other names	Brachydactyly-arterial hypertension syndrome
This condition is inherited in an autosomal dominant manner.

Hypertension and brachydactyly syndrome (HTNB), also known as Bilginturan syndrome and brachydactyly type E among others, is a very rare genetic disorder. ^{[1] [2]}

It was first reported in 1973 by N. Bilginturan et al. ^{[3] [4]} The estimated prevalence is less than 1 out of 1,000,000. ^[2]

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. ^{[1] [5]}

Treatment

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References

External links