Facies (medical): Difference between revisions

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In medical contexts, a '''facies''' is a distinctive facial expression or appearance associated with a specific [[medical condition]].<ref name="M-W">{{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}}</ref> The term comes from the [[Latin]] for "face".<ref name="urlDorlands Medical Dictionary:facies">{{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=}}</ref> As a [[Latin declension#Fifth declension .28e.29|fifth declension]] noun,<ref name="urlNOUNS OF THE FOURTH DECLENSION">{{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= }}</ref> ''facies'' can be both singular and plural.
 
==Types==
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* [[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 sequence|Potter facies]] – [[oligohydramnios]]
* [[Mask like facies]] – [[parkinsonism]]
* [[Leonine facies]] – [[lepromatous leprosy]] or [[craniometaphyseal dysplasia]]<ref>{{cite web|url=https://rarediseases.org/rare-diseases/craniometaphyseal-dysplasia/|title=Craniometaphyseal Dysplasia - NORD (National Organization for Rare Disorders)|publisher=}}</ref>
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* [[Hatchet facies]] – [[myotonia atrophica]]
* [[Gorilla-like face]] – acromegaly
* [[Bovine facies]] (or cow face) – [[craniofacial dysostosis]] or [[crouzonCrouzon syndrome]]
* [[Marshall halls facies]] – [[hydrocephalus]]
* [[Frog face]] – intranasal disease
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* [[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 ==
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* [[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; thusthis causingcauses craniofacial protrusions.<ref name="Taher">{{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}}</ref>
* [[Mowat–Wilson syndrome]]
* [[Snijders Blok–Campeau syndrome]]<ref>{{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}}</ref><ref>{{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}}</ref>
* [[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; thus causing craniofacial protrusions.<ref name="Taher">{{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}}</ref>
 
==See also==