Hutchinson-Gilford Progeria Syndrome

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Synonyms

HGPS, Progeria,

Overview

Progeria (pro-JEER-e-uh), also known as Hutchinson-Gilford progeria syndrome, is an extremely rare, progressive genetic disorder. It causes children to age rapidly, starting in their first two years of life.

Children with progeria generally appear healthy at birth. During the first year, symptoms such as slowed growth, loss of fat tissue and hair loss begin to appear.

Heart problems or strokes are the eventual cause of death in most children with progeria. The average life expectancy for a child with progeria is about 15 years. Some with the condition may die younger and others may live longer, even to about 20 years.

 

Symptoms

Usually within the first year of life, you’ll notice that your child’s growth has slowed. But motor development and intelligence are not affected.

Symptoms of this progressive disorder cause a distinctive appearance. They include:

  • Slowed growth and poor weight gain, with below-average height and weight.
  • Lack of fat that’s stored just beneath the skin.
  • Head that is large compared with the face.
  • Small jaw, chin and mouth and thin lips.
  • Thin, curved nose with a slight hook at the end, which may look like a bird’s beak.
  • Large eyes and eyelids that don’t close completely.
  • Hair loss, including eyelashes and eyebrows.
  • Thin, spotty and wrinkled skin.
  • Veins easily seen through the skin.
  • High-pitched voice.
  • Premature aging.

Symptoms also include health issues:

  • Severe progressive heart and blood vessel disease, also known as cardiovascular disease.
  • Hardening and tightening of skin.
  • Delayed tooth formation and tooth shape that is not usual.
  • Some hearing loss.
  • Loss of fat under the skin and loss of muscle.
  • Problems with the growth and development of bones.
  • Joint problems, including stiff joints.
  • A hip that’s forced out of the correct position, known as hip dislocation.
  • Dental problems.
  • No significant progression of puberty.
  • Insulin resistance, which means the body doesn’t respond well to insulin made by an organ called the pancreas.

Causes

A change in one gene causes progeria. This gene, known as lamin A (LMNA), makes a protein that’s needed to hold the center of a cell, called the nucleus, together. When the LMNA gene has a change, a flawed lamin A protein called progerin is made. Progerin makes cells unstable and appears to lead to progeria’s aging process.

The changed gene that causes progeria is rarely passed down in families. In most cases, the rare gene change that causes progeria happens by chance.

Treatment

There’s no cure for progeria, but new treatments and research show some promise for managing symptoms and complications.