Hutchinson-Gilford Progeria Clinical Presentation

Updated: Nov 24, 2020
  • Author: Kara N Shah, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Evidence of Hutchinson-Gilford progeria syndrome (HGPS) begins within the first 2 years of life. At birth, infants usually appear healthy, although sclerodermatous skin changes have been noted in some patients. Typically, the onset of the disease occurs at age 6-12 months, when skin changes and alopecia are first noted and when the infant fails to gain weight. The following are other suggestive findings [24] :

  • High-pitched voice

  • Short stature and low weight for height, with prenatal onset of growth failure

  • Incomplete sexual maturation

  • Generalized osteoporosis and pathologic fractures

  • Feeding difficulties

  • Delayed dentition, anodontia, hypodontia, or crowding of teeth

  • Low-frequency conductive hearing loss

  • Hypertension

  • Prolonged prothrombin time, elevated platelet counts, and elevated serum phosphorus levels

Emotionally, patients with HGPS share the same feelings as age-matched healthy persons with regard to expressing proper mood and affect. Patients with HGPS are keenly aware of their different appearance and remain reserved in the company of strangers; in the presence of friends, they display affection and good social interaction.

Intelligence is normal.


Physical Examination

The characteristic clinical findings of Hutchinson-Gilford progeria syndrome (HGPS) include abnormalities of the skin and hair in conjunction with characteristic facial features and skeletal abnormalities. [25] The composite appearance of the characteristic facies and parieto-occipital alopecia creates a "plucked-bird" appearance. Evidence of significant growth failure manifests within the first 1-2 years of life and prenatal growth failure is often apparent. [26] The skeletal anomalies are best characterized as a skeletal dysplasia and are thought to be related to microvascular insufficiency and extracellular matrix abnormalities. [26]

Skin and hair findings are as follows:

  • Sclerodermatous skin changes involving the trunk and extremities (see the images below) but sparing the face: These are usually present within the first 6-12 months of life, although they may be present at birth. The skin changes manifest as indurated, shiny, inelastic skin as depicted in the images below. [27]

  • Prominent scalp veins

  • Generalized lipodystrophy with loose, aged-appearing skin: Areas of skin may appear loose, wrinkled, and aged because of the loss of subcutaneous fat, particularly over the hands and feet.

  • Progressive frecklelike hyperpigmentation in sun-exposed areas

  • Hair loss: Scalp hair and eyelashes are progressively lost, resulting in baldness with only a few vellus hairs remaining.

    Sclerodermatous skin changes in Hutchinson-Gilford Sclerodermatous skin changes in Hutchinson-Gilford progeria syndrome. This 12-month-old infant with Hutchinson-Gilford progeria syndrome has indurated, shiny skin and mild joint contractures involving the extremities and trunk.
    Sclerodermatous skin changes in Hutchinson-Gilford Sclerodermatous skin changes in Hutchinson-Gilford progeria syndrome. This 12-month-old infant has indurated, shiny skin with dyspigmentation.

Characteristic facies are as follows (see the image shown below):

  • Protruding ears with absent lobes

  • Beaked nose

  • Thin lips with centrofacial cyanosis

  • Prominent eyes

  • Frontal and parietal bossing with pseudohydrocephaly

  • Large anterior fontanel

    Early Hutchinson-Gilford progeria syndrome. Note t Early Hutchinson-Gilford progeria syndrome. Note the alopecia, prominent scalp veins, and frontal bossing apparent in this 12-month-old infant with Hutchinson-Gilford progeria syndrome. Midface hypoplasia and micrognathia are less apparent.

Oral and craniofacial anomalies are as follows:

  • Midface hypoplasia with micrognathia

  • Dental anomalies, including hypodontia and delayed dentition [28]

  • Palatal anomalies [28]

  • Stiff auricular cartilage, small or absent lobules, shortened ear canals [29]

Musculoskeletal abnormalities are as follows:

  • Thin limbs with prominent joints

  • Joint contractures and coxa valga with mild flexion of the knees resulting in a wide gait and "horse-riding" stance as depicted in the image below

  • Pyriform (pear-shaped) thorax with short, dystrophic clavicles

  • Bilateral hip dislocations

  • Avascular necrosis of the femoral head

    Enlarged joints, mild flexion contractures, and sc Enlarged joints, mild flexion contractures, and sclerodermatous skin changes are seen in this 12-month-old infant with Hutchinson-Gilford progeria syndrome.

Other reported anomalies are as follows:

  • Dystrophic nails

  • Hypertrophic scars

  • Hypoplastic nipples



Death due to cardiovascular abnormalities occurs in approximately 75% of HGPS patients. Other causes of death mentioned in the literature include stroke, marasmus, inanition, seizures, and accidental head trauma.