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Progeria: A Very Rare Genetic Disorder in Children

Progeria: A Very Rare Genetic Disorder in Children
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Progeria

advanced aging


Progeria is also known as Hutchinson-Gilford Syndrome. It is a rare genetic disorder that causes rapid aging in children. Progeria’s prognosis is very poor and most patients do not live past their teens. The condition is incredibly rare, with fewer than 1000 cases worldwide per year. Progeria can be found equally in females and males.

What Causes Progeria?

A single gene mutation results in the development of Progeria. This gene mutation leads to a build-up of a protein called progerin. Progerin causes the body’s cells to break down at an accelerated rate, which leads to the advanced aging process.

Types of Progeria

There is only one type of progeria.

Progeria Symptoms

Progeria symptoms typically do not present until later in infancy. The most prominent symptoms manifest in the child’s physical appearance, but as the child ages progeria can lead to the following symptoms:

  • A bigger head
  • Large eyes
  • A small lower jaw
  • A thin nose with a “beaked” tip
  • Ears that stick out
  • Veins you can see
  • Slow and abnormal tooth growth
  • A high-pitched voice
  • Loss of body fat and muscle
  • Hair loss, including eyelashes and eyebrows
  • Cardiovascular issues
  • Hardening of the arteries
  • Bone loss
  • Stroke

progeria

Diagnosing Progeria

Progeria can be easily diagnosed by your child’s pediatrician based on the apparent physical symptoms. They will likely refer your child to a geneticist to confirm the condition by testing for the gene mutation causing progeria.

Treating Progeria

There is no cure for progeria. The prognosis is very poor for patients, with most not living past their teens. Many patients ultimately succumb to a stroke or heart attack as if they were an elderly individual. Treatment for progeria usually focuses on making the patient comfortable by alleviating some of the symptoms of the condition.

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