Facies (medical)

Short description: Distinctive facial appearance associated with a medical condition

Facies

Facial abnormalities associated with Crouzon syndrome
Specialty| 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.

## Contents

* 1 Types
* 2 Other disorders associated with syndromic facies
* 3 See also
* 4 References
* 5 External links

## 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

This list is incomplete; you can help by expanding it.

* 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|

* DiseasesDB: 18724

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* Face in Clinical Medicine
* wikt:facies

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