In medical contexts, a facies is a distinctive facial expression or appearance associated with a specific
medical condition
A disease is a particular abnormal condition that adversely affects the structure or function (biology), function of all or part of an organism and is not immediately due to any external injury. Diseases are often known to be medical condi ...
.
The term comes from
Latin
Latin ( or ) is a classical language belonging to the Italic languages, Italic branch of the Indo-European languages. Latin was originally spoken by the Latins (Italic tribe), Latins in Latium (now known as Lazio), the lower Tiber area aroun ...
for "face".
As a
fifth declension noun,
''facies'' can be both singular and plural.
Types
Examples include:
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Hippocratic facies – eyes are sunken, temples collapsed, nose is pinched with crusts on the lips, and the forehead is clammy
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Moon face (also known as "Cushingoid facies") –
Cushing's syndrome
Cushing's syndrome is a collection of signs and symptoms due to prolonged exposure to glucocorticoids such as cortisol. Signs and symptoms may include high blood pressure, abdominal obesity but with thin arms and legs, reddish stretch marks, ...
*
Elfin facies –
Williams syndrome
Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. Mild to moderate int ...
,
Donohue syndrome
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Potter facies –
oligohydramnios
Oligohydramnios is a medical condition in pregnancy characterized by a deficiency of amniotic fluid, the fluid that surrounds the fetus in the abdomen, in the amniotic sac. The limiting case is anhydramnios, where there is a complete absence of ...
*
Mask like facies –
parkinsonism
Parkinsonism is a clinical syndrome characterized by tremor, bradykinesia (slowed movements), Rigidity (neurology), rigidity, and balance disorder, postural instability.
Both hypokinetic features (bradykinesia and akinesia) and hyperkinetic f ...
*
Leonine facies Leonine facies is a Facies (medical), facies that resembles that of a lion. It is seen in multiple conditions and has been classically described for lepromatous leprosy as well as Paget's disease of bone. It is a dermatological symptom, with charact ...
–
lepromatous leprosy or
craniometaphyseal dysplasia
*
Mitral facies –
mitral stenosis
Mitral stenosis is a valvular heart disease characterized by the Stenosis, narrowing of the opening of the mitral valve of the heart. It is almost always caused by Rheumatic Heart Disease, rheumatic valvular heart disease. Normally, the mitral va ...
*
Amiodarone facies (deep blue discoloration around malar area and nose)
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Acromegalic facies –
acromegaly
Acromegaly is a disorder that results in excess growth of certain parts of the human body. It is caused by excess growth hormone (GH) after the growth plates have closed. The initial symptom is typically enlargement of the hands and feet. There ...
*
Flat facies –
Down syndrome
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Marfanoid facies –
Marfan's syndrome
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Snarling facies –
myasthenia gravis
Myasthenia gravis (MG) is a long-term neuromuscular junction disease that leads to varying degrees of skeletal muscle weakness. The most commonly affected muscles are those of the eyes, face, and swallowing. It can result in double vision, ...
*
Myotonic facies –
myotonic dystrophy
Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. In DM, muscles are often myotonia, unable to relax after contraction. Other manifestations may include catarac ...
*
Torpid facies –
myxoedema
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Mouse facies –
chronic kidney failure
Chronic kidney disease (CKD) is a type of long-term kidney disease, defined by the sustained presence of abnormal kidney function and/or abnormal kidney structure. To meet criteria for CKD, the abnormalities must be present for at least three mo ...
*
Plethoric facies –
Cushing's syndrome
Cushing's syndrome is a collection of signs and symptoms due to prolonged exposure to glucocorticoids such as cortisol. Signs and symptoms may include high blood pressure, abdominal obesity but with thin arms and legs, reddish stretch marks, ...
and
polycythemia vera
In oncology, polycythemia vera (PV) is an uncommon myeloproliferative neoplasm in which the bone marrow makes too many red blood cells. Approximately 98% of PV patients have a JAK2 gene mutation in their blood-forming cells (compared with 0.1-0 ...
*
Bird facies –
Pierre Robin sequence
Pierre Robin sequence (; abbreviated PRS) is a congenital defect observed in humans which is characterized by facial abnormalities. The three main features are micrognathia (abnormally small mandible), which causes glossoptosis (downwardly displ ...
*
Ashen grey facies –
myocardial infarction
A myocardial infarction (MI), commonly known as a heart attack, occurs when Ischemia, blood flow decreases or stops in one of the coronary arteries of the heart, causing infarction (tissue death) to the heart muscle. The most common symptom ...
*
Gargoyle facies –
Hurler's syndrome
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Monkey facies –
marasmus
Marasmus is a form of severe malnutrition characterized by energy deficiency. It can occur in anyone with severe malnutrition but usually occurs in children. Body weight is reduced to less than 62% of the normal (expected) body weight for the ...
*
Hatchet facies –
myotonia atrophica
*
Gorilla-like face – acromegaly
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Bovine facies (or cow face) –
craniofacial dysostosis or
Crouzon syndrome
*
Marshall halls facies –
hydrocephalus
Hydrocephalus is a condition in which cerebrospinal fluid (CSF) builds up within the brain, which can cause pressure to increase in the skull. Symptoms may vary according to age. Headaches and double vision are common. Elderly adults with n ...
*
Frog face – intranasal disease
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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.
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Lion-like facies – involvement of craniofacial bones in Paget disease of Bone
*
Chipmunk facies –
beta thalassemia
Beta-thalassemia (β-thalassemia) is an genetic disorder, inherited hemoglobinopathy, blood disorder, a form of thalassemia resulting in variable outcomes ranging from clinically asymptomatic to severe anemia individuals. It is caused by reduce ...
*
Treacher Collins syndrome
Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree to which a person is affected, however, may vary from mild to severe. Complications may include breathing pr ...
– deformities of the ears, eyes, cheekbones, and chin
Other disorders associated with syndromic facies
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Pitt–Hopkins syndrome
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Beta thalassemia
Beta-thalassemia (β-thalassemia) is an genetic disorder, inherited hemoglobinopathy, blood disorder, a form of thalassemia resulting in variable outcomes ranging from clinically asymptomatic to severe anemia individuals. It is caused by reduce ...
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.
*
Mowat–Wilson syndrome
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Snijders Blok–Campeau syndrome
See also
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Body habitus
References
External links
{{Medical resources
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Face in Clinical Medicine*
wikt:facies
Medical signs