Facies (medical)
Facies | |
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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 the 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
- – parkinsonism
- Leonine facies – lepromatous leprosy or craniometaphyseal dysplasia[4]
- Mitral facies – mitral stenosis
- (deep blue discoloration around malar area and nose)
- – acromegaly
- – Down syndrome
- – Marfan's syndrome
- – myasthenia gravis
- – myotonic dystrophy
- – myxoedema
- – chronic kidney failure
- – Cushing's syndrome and polycythemia vera
- – Pierre Robin sequence
- – myocardial infarction
- – Hurler's syndrome
- – marasmus
- – myotonia atrophica
- – acromegaly
- (or cow face) – craniofacial dysostosis or crouzon syndrome
- – hydrocephalus
- – 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.
- – involvement of craniofacial bones in Paget disease of Bone
- – 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
- Mowat–Wilson 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]
See also[]
- Body habitus
References[]
- ^ "Definition of FACIES". www.merriam-webster.com. Retrieved 4 February 2021.
- ^ "Dorlands Medical Dictionary:facies".
- ^ "NOUNS OF THE FOURTH DECLENSION". Archived from the original on 2008-07-20.
- ^ "Craniometaphyseal Dysplasia - NORD (National Organization for Rare Disorders)".
- ^ 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.
External links[]
Classification |
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Categories:
- Medical signs