Facies (medical)
{{short description|Distinctive facial appearance associated with a medical condition}}
{{Infobox medical condition (new)
| name = Facies
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| caption = Facial abnormalities associated with Crouzon syndrome
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| field = Medical genetics
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In medical contexts, a facies is a distinctive facial expression or appearance associated with a specific medical condition.{{cite web |title=Definition of FACIES |url=https://www.merriam-webster.com/dictionary/facies |website=www.merriam-webster.com |access-date=4 February 2021 |language=en}} The term comes from Latin for "face".{{cite web |url=http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/three/000038177.htm |title=Dorlands Medical Dictionary:facies |accessdate=}} As a fifth declension noun,{{cite web|url=http://webpages.ursinus.edu/classics/latin/nouns_fourthfifthdecl_forms.htm |title=NOUNS OF THE FOURTH DECLENSION |access-date= |url-status=dead |archive-url=https://web.archive.org/web/20080720065425/http://webpages.ursinus.edu/classics/Latin/nouns_fourthfifthdecl_forms.htm |archive-date=2008-07-20 |df= }} 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{{cite web|url=https://rarediseases.org/rare-diseases/craniometaphyseal-dysplasia/|title=Craniometaphyseal Dysplasia - NORD (National Organization for Rare Disorders)|publisher=}}
- 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
{{Incomplete list|date=March 2020}}
- 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.{{cite journal |last1=Taher |first1=Ali T. |last2=Musallam |first2=Khaled M. |last3=Cappellini |first3=M. Domenica |title=β-Thalassemias |journal=New England Journal of Medicine |date=25 February 2021 |volume=384 |issue=8 |pages=727–743 |doi=10.1056/NEJMra2021838}}
- Mowat–Wilson syndrome
- Snijders Blok–Campeau syndrome{{Cite web |title=Snijders Blok-Campeau syndrome: MedlinePlus Genetics |url=https://medlineplus.gov/genetics/condition/snijders-blok-campeau-syndrome/ |access-date=2022-07-20 |website=medlineplus.gov |language=en}}{{Cite web |title=Snijders Blok-Campeau syndrome (Concept Id: C4748701) - MedGen - NCBI |url=https://www.ncbi.nlm.nih.gov/medgen/1648495 |access-date=2022-07-20 |website=www.ncbi.nlm.nih.gov |language=en}}
See also
References
{{Reflist}}
External links
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- [https://web.archive.org/web/20121221115525/http://www.imnotebook.com/content/face Face in Clinical Medicine]
- wikt:facies