Facies (Medical)

Facies
	Facial abnormalities associated with Crouzon syndrome
Specialty	Medical genetics

Short description: Distinctive facial appearance associated with a medical condition

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