Facies (medical) explained

Facies
Field:	Medical genetics

In medical contexts, a facies is a distinctive facial expression or appearance associated with a specific medical condition.^[1] The term comes from Latin for "face".^[2] As a fifth declension noun,^[3] facies can be both singular and plural.

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^[4]
• 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.^[5]
• Mowat–Wilson syndrome
• Snijders Blok–Campeau syndrome^{[6] [7]}

See also

• Body habitus

External links

• Face in Clinical Medicine

Notes and References

1. Web site: Definition of FACIES . www.merriam-webster.com . 4 February 2021 . en.
2. Web site: Dorlands Medical Dictionary:facies .
3. Web site: NOUNS OF THE FOURTH DECLENSION . dead . https://web.archive.org/web/20080720065425/http://webpages.ursinus.edu/classics/Latin/nouns_fourthfifthdecl_forms.htm . 2008-07-20 .
4. Web site: Craniometaphyseal Dysplasia - NORD (National Organization for Rare Disorders).
5. Taher . Ali T. . Musallam . Khaled M. . Cappellini . M. Domenica . β-Thalassemias . New England Journal of Medicine . 25 February 2021 . 384 . 8 . 727–743 . 10.1056/NEJMra2021838.
6. Web site: Snijders Blok-Campeau syndrome: MedlinePlus Genetics . 2022-07-20 . medlineplus.gov . en.
7. Web site: Snijders Blok-Campeau syndrome (Concept Id: C4748701) - MedGen - NCBI . 2022-07-20 . www.ncbi.nlm.nih.gov . en.