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Diagnostic facies !

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Some diseases change the face in typical ways; recognising them points to the diagnosis at first glance.

Updated 2026-11-01

See it in 3D: Pituitary gland · Thyroid gland · Left adrenal gland · Right adrenal gland

What it is

Facies is the expression and appearance of the face. Some endocrine, neurological, renal and genetic diseases produce facies so characteristic that they suggest the diagnosis before any history is taken. Face shape, skin and colour, eyes and lids, eyebrows and hair, mouth and facial expression are assessed.

The anatomy it tests

  • The pituitary controls growth hormone (acromegaly) and corticotropin (pituitary Cushing).
  • The thyroid regulates metabolism; its deficiency infiltrates skin with mucopolysaccharides and gives the puffy look.
  • The adrenals make cortisol; its excess redistributes fat to the face, neck and trunk.
  • Parkinsonian facies reflects loss of dopaminergic neurons of the basal ganglia.

How to elicit it

  1. Look at the face from the front and in profile, in good light and at rest.
  2. Assess shape and symmetry: round, long, asymmetric or coarse-featured.
  3. Look at skin and colour: plethora, pallor, jaundice, cyanosis, malar rash.
  4. Observe eyes and lids: swelling, retraction, exophthalmos, ptosis.
  5. Note eyebrows, hair, lips and tongue, and facial expression while talking and smiling.
  6. Compare with old photographs of the patient if available, since the changes are slow.

What a positive result means

  • Cushing: glucocorticoid excess, from steroid use or from a pituitary or adrenal tumour.
  • Hypothyroidism: autoimmune thyroiditis (the most common) or after thyroid treatment.
  • Exophthalmos: Graves disease.
  • Acromegaly: growth hormone-secreting pituitary adenoma.
  • Morning eyelid swelling: nephrotic syndrome.
  • Upslanting palpebral fissures and a flat profile: Down syndrome.
  • Leonine facies: lepromatous leprosy. Mitral facies (malar flush): mitral stenosis.

Usefulness and limits

  • Facies suggests but does not confirm: hormone tests, imaging or genetic studies are needed.
  • Slow changes go unnoticed by family and doctors; old photographs help.

Test yourself

Think of the answer, then tap the question to see it.

What are the features of the Cushing facies?

A round ('moon') and plethoric face, with a dorsal fat pad and central obesity.

Which facies is typical of Parkinson disease?

The expressionless or 'masked' face, with reduced facial expression and blinking.

What does eyelid swelling worse in the morning suggest?

A renal cause, typically nephrotic syndrome, because fluid shifts to the face while lying down.

Which facial features suggest acromegaly?

Coarse features, prognathism, prominent brow ridges and an enlarged nose, lips and tongue.

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See it in 3D

The structures of Durgical's 3D anatomy where it is found.

← All of the clinical exam

Educational content on the clinical exam; it is learned and practised under supervision. It does not replace assessment by a health professional and is not for self-diagnosis.

Sources: Cushing Syndrome - Endocrinology - MSD Manual Professional Edition (Merck & Co. (MSD Manual Professional Edition), 2025); Hypothyroidism - Endocrinology - MSD Manual Professional Edition (Merck & Co. (MSD Manual Professional Edition), 2025).

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Representative model, for educational purposes only.