Facies (medical)

Types

Examples include:

• Hippocratic facies – eyes are sunken, temples collapsed, nose is pinched with crusts on the lips, and the forehead is clammy
• Moon face (also known as "Cushingoid facies") – Cushing's syndrome
• Elfin facies – Williams syndrome, Donohue syndrome
• Potter facies – oligohydramnios
• Mask like facies – parkinsonism
• Leonine facies – lepromatous leprosy or craniometaphyseal dysplasia
• Mitral facies – mitral stenosis
• Amiodarone facies (deep blue discoloration around malar area and nose)
• Acromegalic facies – acromegaly
• Flat facies – Down syndrome
• Marfanoid facies – Marfan's syndrome
• Snarling facies – myasthenia gravis
• Myotonic facies – myotonic dystrophy
• Torpid facies – myxoedema
• Mouse facies – chronic kidney failure
• Plethoric facies – Cushing's syndrome and polycythemia vera
• Bird facies – Pierre Robin sequence
• Ashen grey facies – myocardial infarction
• Gargoyle facies – Hurler's syndrome
• Monkey facies – marasmus
• Hatchet facies – myotonia atrophica
• Gorilla-like face – acromegaly
• Bovine facies (or cow face) – craniofacial dysostosis or Crouzon syndrome
• Marshall halls facies – hydrocephalus
• Frog face – intranasal disease
• Coarse facies – many inborn errors of metabolism
• Adenoid facies – developmental facial traits caused by adenoid hypertrophy, nasal airway obstruction and mouthbreathing; really a form of long face syndrome.
• Lion-like facies – involvement of craniofacial bones in Paget disease of Bone
• Chipmunk facies – beta thalassemia
• Treacher Collins syndrome – deformities of the ears, eyes, cheekbones, and chin

Other disorders associated with syndromic facies

• Pitt–Hopkins syndrome
• Beta thalassemia is associated with distinctive facial features due to ineffective erythropoiesis. The ineffective erythropoiesis causes marrow hyperplasia or expansion and bony changes, including the bones of the face; this causes craniofacial protrusions.
• Mowat–Wilson syndrome
• Rubinstein–Taybi syndrome
• Snijders Blok–Campeau syndrome

References

References

1. "Definition of FACIES".
2. "Dorlands Medical Dictionary:facies".
3. "NOUNS OF THE FOURTH DECLENSION".
4. "Craniometaphyseal Dysplasia - NORD (National Organization for Rare Disorders)".
5. (25 February 2021). "β-Thalassemias". New England Journal of Medicine.
6. "Snijders Blok-Campeau syndrome: MedlinePlus Genetics".
7. "Snijders Blok-Campeau syndrome (Concept Id: C4748701) - MedGen - NCBI".