Facies (Medical)

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Short description: Distinctive facial appearance associated with a medical condition
Facies
Patient with Crouzon syndrome (1912).jpg
Facial abnormalities associated with Crouzon syndrome
SpecialtyMedical 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
  • 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

References

  1. "Definition of FACIES" (in en). https://www.merriam-webster.com/dictionary/facies. 
  2. "Dorlands Medical Dictionary:facies". http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/three/000038177.htm. 
  3. "NOUNS OF THE FOURTH DECLENSION". http://webpages.ursinus.edu/classics/latin/nouns_fourthfifthdecl_forms.htm. 
  4. "Craniometaphyseal Dysplasia - NORD (National Organization for Rare Disorders)". https://rarediseases.org/rare-diseases/craniometaphyseal-dysplasia/. 
  5. Taher, Ali T.; Musallam, Khaled M.; Cappellini, M. Domenica (25 February 2021). "β-Thalassemias". New England Journal of Medicine 384 (8): 727–743. doi:10.1056/NEJMra2021838. 
  6. "Snijders Blok-Campeau syndrome: MedlinePlus Genetics" (in en). https://medlineplus.gov/genetics/condition/snijders-blok-campeau-syndrome/. 
  7. "Snijders Blok-Campeau syndrome (Concept Id: C4748701) - MedGen - NCBI" (in en). https://www.ncbi.nlm.nih.gov/medgen/1648495. 

External links

Classification
D
  • DiseasesDB: 18724
  • Face in Clinical Medicine
  • wikt:facies



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Categories: [Medical signs]


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