As per the GOI circular on price capping of Orthopaedic Knee implant by NPPA(National Pharmaceutical Pricing Authority), new prices of knee implants have been implemented effective 16th August 2017. For details on knee implant pricing across our hospitals. CLICK HERE | As per GOI’s circular dated 02nd April 2018 on price-capping of stents by NPPA(National Pharmaceutical Pricing Authority), new prices of coronary stents are revised with effect from 01st April, 2018. For details on stent pricing.CLICK HERE

Progeria

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

Children with progeria generally appear normal at birth. During the first year, signs and symptoms, such as slow growth 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 13 years, but some with the disease die younger and some live 20 years or longer.

There's no cure for progeria, but ongoing research shows some promise for treatment.

Symptoms Causes Complications

Usually within the first year of life, growth of a child with progeria slows markedly, but motor development and intelligence remain normal.

Signs and symptoms of this progressive disorder include a distinctive appearance:

  • Slowed growth, with below-average height and weight
  • Narrowed face, small lower jaw, thin lips and beaked nose
  • Head disproportionately large for 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:

  • Hardening and tightening of skin on 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
  • Fragile bones
  • Stiff joints
  • Hip dislocation
  • Insulin resistance
  • Severe progressive heart and blood vessel (cardiovascular) disease

When to see a doctor

Call for an appointment with your doctor if your child does not appear to be growing or developing normally, including problems with hair loss, skin changes or slowed growth.

Researchers have discovered a single gene mutation responsible for progeria. The gene, known as lamin A (LMNA), makes a protein necessary for holding the center (nucleus) of a cell together. When this gene has a defect, researchers believe the genetic mutation makes cells unstable, which appears to lead to progeria's aging process.

Unlike many genetic mutations, progeria isn't passed down in families. Rather, the gene change is a chance occurrence that researchers believe affects a single sperm or egg just before conception. Neither parent is a carrier, so the mutations in the child's genes are new (de novo).

Other similar syndromes

There are, however, other progeroid syndromes that run in families. These inherited syndromes cause rapid aging and shortened life span:

  • Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, starts in the womb, with signs and symptoms of aging apparent at birth.
  • Werner syndrome begins in the teen years or early adulthood, causing premature aging and conditions typical of old age, such as cataracts and diabetes.

Children with progeria usually develop severe hardening of the arteries. This is a condition in which the walls of their arteries — blood vessels that carry nutrients and oxygen from the heart to the rest of the body — stiffen and thicken, often restricting blood flow.

Most children with progeria die of complications related to atherosclerosis, including:

  • Problems with blood vessels that supply the heart (cardiovascular problems), resulting in heart attack and congestive heart failure
  • Problems with blood vessels that supply the brain (cerebrovascular problems), resulting in stroke

Other health problems frequently associated with aging — such as arthritis, nearsightedness and increased cancer risk — do not develop as part of the course of progeria.

© 1998-2015 Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. Terms of use