Hypertension and brachydactyly syndrome

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Hypertension and brachydactyly syndrome
Synonyms	Bilginturan syndrome
Pronounce
Specialty	Cardiology, Genetics
Symptoms	Hypertension, Brachydactyly
Complications	N/A
Onset	Childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Genetic testing, Blood pressure measurement
Differential diagnosis	Essential hypertension, Liddle syndrome
Prevention	N/A
Treatment	Antihypertensive medication
Medication	Calcium channel blockers, ACE inhibitors
Prognosis	Variable, risk of stroke
Frequency	Rare
Deaths

Hypertension and Brachydactyly Syndrome (HBS) is a rare genetic disorder characterized by high blood pressure (hypertension) and short fingers and toes (brachydactyly). The syndrome is caused by mutations in the PDE3A gene.

Introduction

HBS is a rare genetic disorder that affects less than 1 in 1,000,000 individuals worldwide. The syndrome is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the disorder to each of their offspring.

Symptoms

The primary symptoms of HBS are high blood pressure and short fingers and toes. The hypertension typically presents in early childhood and can lead to serious complications such as stroke, heart attack, and kidney failure if not properly managed. The brachydactyly is present from birth and can cause difficulties with fine motor skills.

Causes

HBS is caused by mutations in the PDE3A gene. This gene provides instructions for making an enzyme that helps regulate blood pressure and bone growth. Mutations in the PDE3A gene disrupt the normal function of this enzyme, leading to the symptoms of HBS.

Diagnosis

HBS is diagnosed based on the presence of its characteristic symptoms and confirmed through genetic testing. This testing can identify mutations in the PDE3A gene that cause the syndrome.

Treatment

There is currently no cure for HBS. Treatment is focused on managing the symptoms of the disorder. Hypertension is typically managed with antihypertensive drugs, and individuals with HBS may also benefit from physical and occupational therapy to help manage the difficulties caused by brachydactyly.

See Also

• Hypertension
• Brachydactyly
• Genetic disorder
• PDE3A

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