Shapiro syndrome (medical condition)

A rare disorder characterized by recurring periods of hypothermia that occur for no obvious reason. See also Spontaneous periodic hypothermia

Shapiro syndrome is a rare medical condition that is also known as familial dysautonomia type 3 or hereditary sensory and autonomic neuropathy type 3 (HSAN-III). It is an autosomal recessive disorder, which means that a person must inherit two copies of the defective gene (one from each parent) in order to develop the condition.

The syndrome is characterized by episodes of hypothermia (low body temperature), hyperhidrosis (excessive sweating), and a peculiar behavior of emotional lability (rapid changes in mood or behavior). Other symptoms may include difficulty swallowing, difficulty regulating blood pressure and heart rate, gastrointestinal problems, and respiratory difficulties.

Shapiro syndrome is caused by a genetic mutation that affects the development and function of the autonomic nervous system, which is responsible for regulating involuntary functions such as heart rate, blood pressure, and temperature control. The mutation affects the production of a protein called IKAP, which is necessary for the normal development and function of the autonomic nervous system.

There is no cure for Shapiro syndrome, and treatment is usually focused on managing the symptoms. This may involve medications to help regulate blood pressure and heart rate, as well as therapies to address gastrointestinal and respiratory problems. People with Shapiro syndrome may also benefit from regular monitoring by a healthcare professional to manage any potential complications of the condition.