Hutchinson Gilford Progeria Syndrome

What is Hutchinson Gilford Progeria syndrome?

Hutchinson Gilford Progeria Syndrome onset of early aging with rapid and dramatic progression started at the childhood due to the unique genetic condition is termed as Hutchinson-Gilford Progeria Syndrome

Hutchinson-Gilford Progeria syndrome is only related to the physical appearance without hampering rather altering intellectual development and motor skill development like sitting, standing, and walking.

The outcome of Hutchinson-Gilford Progeria Syndrome s life threatening due to severe hardening of the arteries at the early stage of life increase the risk of cardiac failure and stroke attack at the young age of the affected children. This condition is progressive and increases complications, which often provides a fatal outcome1,2.

Hutchinson Gilford Progeria Syndrome Features 1


The term ‘Progeria’ is derived from a Greek word ‘gas’ means old age. Hutchinson first described the clinical presentation of ‘Progeria’ in 1886. Hutchinson described the disease basis on a case of a 6-year-old boy who had an appearance of an old man. In 1887,   Gilford demonstrated a second case study with similar symptoms.

Furthermore, in 1904Gilford depicted the clinical manifestations of progeria at different ages by publishing a series of photographs, which portray the physical changes occur during the life span of the ‘Progeria’ affected child. Since then 100 cases of Hutchinson-Gilford Progeria is clinically updated till February 20171,3.

 Life Expectancy

Children suffering from Hutchinson-Gilford Progeria syndrome usually unable to cross their teenage and usually die within 13 years of age1.

Hutchinson Gilford Progeria Syndrome Picture 2


Hutchinson-Gilford Progeria syndrome affected neonates have multiple characteristics symptoms, which usually observed in person more than 50 years of age. The included symptoms are as follows:

  • After birth the affected neonates have unusual skin textures like shiny, inflexible, hard skin present over the buttocks, thigh and the lower region of the abdomen; cyanosis (bluish skin and mucous membrane) spread over the mid-facial part; curved shape (“sculptured”) nose.
  • The fatty layer beneath the skin is gradually lost and veins in the scalp, thighs are abnormally prominent.
  • The aging of the skin of the Hutchinson-Gilford Progeria syndrome affected children is faster and looks like wrinkled, dry, lack of elasticity of the skin. Sun exposed areas become highly pigmented.
  • Nails in toes and fingers are yellowish, thin, curved and easily brittle in nature.
  • The noticeable growth retardation observable after one year of the child, which makes the affected child low weight and short stature. Case studies showed that Hutchinson-Gilford Progeria syndrome affected 10 years the aged child has an average height of the three-year-old child.
  • Hypoplasia (underdeveloped facial bones) and micrognathia (undersized jaw) occurs at lower jaw.
  • Dome- shaped skull. Frontal and parietal bones of the skull are unusually prominent. Other skeletal system deformities include short, lean clavicles (collarbones); shoulders are slender; ribs are thin; and a narrow or “pear-shaped” chest with a prominent abdomen.
  • The long bones in both the extremities may thins and fragile, which have a larger risk of fracture. Degenerative changes in the bones often cause several types of bone abnormalities and that can extend to “tapered” and short phalanges.
  • The face size is smaller than head size. Other unusual facial features include the pointed, small and thin nose, eyes are prominent, ear lobes are absent, small sized ears, lips are thin.
  • Delayed eruption of both primary and permanent teeth; arrangement of teeth is irregular, undersized teeth, some may absent; increase the incidence of dental caries; dental crowding is often common due to undersized jaw structure.
  • Hutchinson-Gilford Progeria syndrome affected children have sparse hair on the scalp and progressive to alopecia (loss of hair) within two years of their age.
  • In some cases, hair on the scalp turn to white and remain till their life cycle. Some children lost their eyelashes, eyebrows at their early childhood.
  • Voice is high pitched
  • The infections, which mainly affects neonates and children are less common in Hutchinson-Gilford Progeria syndrome affected children1,2,3,5.


Chromosome 1 is surrounded on the cell’s nucleus. Chromosome 1 is made with lamin A protein. Researchers found that in Hutchinson-Gilford Progeria Syndrome affected children have abnormal lamin A protein and progerin is synthesized in their body.

Hutchinson-Gilford Progeria Syndrome is considered as a very rare disease and does not provide hereditary transmission of the condition. Hutchinson-Gilford Progeria Syndrome is considered as an intermittent condition develops due to one copy of the gene has an autosomal mutation (dominant).

Therefore, the chance in a family without a previous history of a Progeria-affected childbirth, then the risk of having a child with progeria is negligible (1 in 4 – 8 million). But if a previous pregnancy provides a Progeria-affected childbirth, then the risk of having a child with progeria is about 2 to 3 percent.

This chromosomal mutation involvement termed as mosaicism means where either of a parent has a small portion of progeria genetic mutation, but symptoms are not prominent.

The exact pathophysiology of early aging is not fully cleared. It has been expected that cell degeneration due to ongoing metabolic process is very fast and that may due to increasing oxidative stress in the body.

The insufficient amount of certain antioxidant enzymes like gluthathione peroxidase, catalase may be a reason of early aging. Research findings support that increased level of progerin enhances the risk of atherosclerosis, which provides further cardiac complications2.


Hutchinson-Gilford Progeria Syndrome is diagnosed through analyzing the clinical presentation. Usually, most of the Hutchinson-Gilford Progeria Syndrome affected child has been diagnosed after their two years of age when all the symptoms are prominent.

However, very rarely patient with Hutchinson-Gilford Progeria Syndrome has diagnosed within their first year of life due to birth defects are very prominent and considerable remarkable by providing some suspicious findings like hard, shiny skin over the buttocks, thighs, lower abdomen; “sculptured” nose or midfacial cyanosis.

Imaging tools are also utilized to diagnose the condition Like X-rays are displayed the skeletal system deformities. Cardiac abnormalities also detected through ECG and ECHO tests2,4.

Hutchinson Gilford Progeria Syndrome Lab 3


There is no curative treatment available for Hutchinson-Gilford Progeria Syndrome. Farnesyltransferase inhibitors (FTIs) is a cancer chemotherapeutic agent has effective against Hutchinson-Gilford Progeria Syndrome to repair the cellular damage. Other therapeutic approaches are applied to delay the disease progression.


Blood clot-preventing drugs, cholesterol lowering drugs are prescribed by the doctor to prevent cardiac complications. Low dose aspirin is prescribed to maintain the blood circulation by thinning the blood property and prevent stroke and cardiac attacks.

Supplementation of growth hormone may require maintaining the overall growth of the body.

Physical therapy

Physical therapy and several occupational therapies are recommended for Hutchinson-Gilford Progeria Syndrome. affected patients to prevent joint stiffness.

Surgical Intervention

Cardiac bypass surgery, angioplasty may require for severe cardiac complications and to prevent progression of the cardiac complications.

Care at Home

Dehydration is a common problem in Hutchinson-Gilford Progeria Syndrome. affected children, so sufficient water and fluid intake is very important to keep their health steady.

Small and frequent meals with easily digestible nutrient require for Hutchinson-Gilford Progeria Syndrome affected children to maintain their energy level and prevent their discomfort1,5,.


  1. Progeria; WebMD; Retrieve from
  2. Hutchinson-Gilford Progeria; National Organization For Rare Disorders; Retrieve from
  3. Kara N Shah, (2017); Hutchinson-Gilford Progeria; Retrieve from
  4. Bruce Korf; Hutchinson–Gilford Progeria Syndrome, Aging, and the Nuclear Lamina; N Engl J Med 2008; 358:552-555February 7, 2008DOI: 10.1056/NEJMp0800071; Retrieve from
  5. Hutchinson-Gilford Progeria Syndrome; Retrieve from

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