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Putting a Spotlight On

Each month The Arc of New Jersey Family Institute spotlights a different developmental disability to help build awareness and educate others about the disability. Learn more below.


What is Progeria Syndrome?

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

 

What are the signs of Progeria Syndrome?

  • Slowed growth, with below-average height and weight
  • Narrowed face, small lower jaw, thin lips and beaked nose
  • Head disproportionately large for the face
  • Prominent eyes and incomplete closure of the eyelids
  • Hair loss, including eyelashes and eyebrows
  • Thinning, spotty, wrinkled skin
  • Visible veins
  • High-pitched voice
  • Signs and symptoms also include health issues:
  • Severe progressive heart and blood vessel (cardiovascular) disease
  • Hardening and tightening of skin on the trunk and extremities (similar to scleroderma)
  • Delayed and abnormal tooth formation
  • Some hearing loss
  • Loss of fat under the skin and loss of muscle mass
  • Skeletal abnormalities and fragile bones
  • Stiff joints
  • Hip dislocation
  • Insulin resistance

 

How is Progeria Syndrome diagnosed?

Progeria is usually detected in infancy or early childhood, often at regular checkups, when a baby first shows the characteristic signs of premature aging.

If you notice changes in your child that could be signs and symptoms of progeria, or you have any concerns about your child's growth or development, make an appointment with your child's doctor.

 

 

What services are available for individuals with Progeria Syndrome?

There is no cure for progeria, but occupational and physical therapy can help the child keep moving if their joints are stiff.

Heart health is critical for people with progeria, so the doctor may prescribe statins, nitroglycerin for angina, and routine therapy for congestive heart failure.

Eating healthily and getting regular exercise are important.

Some patients may have cardiac surgery to slow the progression of heart disease.

Self-care tips may include eating different foods when the lipid, or fat, profile begins to change, and eating small meals regularly to maximize calorie intake.

Sun screen is important for protecting the skin, and padding in shoes can help minimize discomfort caused by a lack of fat padding on the body.

 

Resources/References:

https://www.medicalnewstoday.com/articles/146746#treatment

https://medlineplus.gov/genetics/condition/hutchinson-gilford-progeria-syndrome/#resources

https://www.mayoclinic.org/diseases-conditions/progeria/symptoms-causes/syc-20356038

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 


Spotlight Archive