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 negatively affects the structure or function of all or part of an organism, and that is not immediately due to any external injury. Diseases are often known to be medical conditions that a ...

. The term comes from

Latin Latin (, or , ) is a classical language belonging to the Italic branch of the Indo-European languages. Latin was originally a dialect spoken in the lower Tiber area (then known as Latium) around present-day Rome, but through the power of the ...

for "face". As a fifth declension noun, ''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 A Moon face is a medical sign in which the face develops a rounded appearance (reminiscent of the "Man in the Moon") due to fat deposits on the sides of the face. Symptoms and causes Moon face is often associated with Cushing's syndrome or stero ...

(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, a ...

Elfin facies Elfin (Elven) facies is a form of facies where the patient presents with facial characteristics bearing some similarities to those traditionally associated with elves. It is characterized by prominent forehead, widely spaced eyes, upturned nose, un ...

–

Williams syndrome Williams syndrome (WS) 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 intellectual disability is observed in people ...

* Potter facies – oligohydramnios * Mask like facies –

parkinsonism Parkinsonism is a clinical syndrome characterized by tremor, bradykinesia (slowed movements), rigidity, and postural instability. These are the four motor symptoms found in Parkinson's disease (PD), after which it is named, dementia with Lewy b ...

* Leonine facies –

lepromatous leprosy Lepromatous leprosy is a form of leprosy characterized by pale macules in the skin. It results from the failure of Th1 cell activation which is necessary to eradicate the mycobacteria (Th1 response is required to activate macrophages that engulf ...

or craniometaphyseal dysplasia *

Mitral facies Mitral facies is a distinctive facial appearance associated with mitral stenosis. Someone with mitral stenosis may present with rosy cheeks, whilst the rest of the face has a bluish tinge due to cyanosis Cyanosis is the change of body tissue ...

–

mitral stenosis Mitral stenosis is a valvular heart disease characterized by the narrowing of the opening of the mitral valve of the heart. It is almost always caused by rheumatic valvular heart disease. Normally, the mitral valve is about 5 cm2 during d ...

* Amiodarone facies (deep blue discoloration around malar area and nose) * Acromegalic facies – acromegaly *

Flat facies Flat or flats may refer to: Architecture * Flat (housing), an apartment in the United Kingdom, Ireland, Australia and other Commonwealth countries Arts and entertainment * Flat (music), a symbol () which denotes a lower pitch * Flat (soldier), a ...

–

Down syndrome Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual dis ...

Marfanoid facies Marfanoid (or Marfanoid habitus) is a constellation of symptoms resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a high arc ...

–

Marfan's syndrome Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints a ...

Snarling facies A snarl is a sound, often a growl or vicious utterance, often accompanied by a facial expression, where the upper lip is raised, and the nostrils widen, generally indicating hate, anger or pain. In addition to humans, other mammals including ...

– myasthenia gravis *

Myotonic facies Myotonia is a symptom of a small handful of certain neuromuscular disorders characterized by delayed relaxation (prolonged contraction) of the skeletal muscles after voluntary contraction or electrical stimulation. Myotonia is the defining sympt ...

–

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 unable to relax after contraction. Other manifestations may include cataracts, intel ...

Torpid facies Torpor is a state of decreased physiological activity in an animal, usually marked by a reduced body temperature and metabolic rate. Torpor enables animals to survive periods of reduced food availability. The term "torpor" can refer to the time ...

– myxoedema * Mouse facies –

chronic kidney failure Chronic kidney disease (CKD) is a type of kidney disease in which a gradual loss of kidney function occurs over a period of months to years. Initially generally no symptoms are seen, but later symptoms may include leg swelling, feeling tired, vo ...

* Plethoric facies –

and

polycythemia vera Polycythemia vera is an uncommon myeloproliferative neoplasm (a type of chronic leukemia) in which the bone marrow makes too many red blood cells. It may also result in the overproduction of white blood cells and platelets. Most of the healt ...

* 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 blood flow decreases or stops to the coronary artery of the heart, causing damage to the heart muscle. The most common symptom is chest pain or discomfort which may ...

* 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 Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial ...

* Marshall halls facies –

hydrocephalus Hydrocephalus is a condition in which an accumulation of cerebrospinal fluid (CSF) occurs within the brain. This typically causes increased pressure inside the skull. Older people may have headaches, double vision, poor balance, urinary inc ...

* 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 Mouth breathing, medically known as chronic oral ventilation, is long-term breathing through the mouth. It often is caused by an obstruction to breathing through the nose, the innate breathing organ in the human body. Chronic mouth breathing ma ...

; really a form of

long face syndrome Long face syndrome, also referred to as skeletal open bite, is a relatively common condition characterised by excessive vertical facial development. Its causes may be either genetic or environmental. Long face syndrome is "a common dentofacial abno ...

. * Lion-like facies – involvement of craniofacial bones in Paget disease of Bone * Chipmunk facies –

beta thalassemia Beta thalassemias (β thalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to cl ...

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 prob ...

– deformities of the ears, eyes, cheekbones, and chin

Other disorders associated with syndromic facies

Pitt–Hopkins syndrome Pitt–Hopkins syndrome (PTHS) is a rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea. Pitt-Hopkins syndrome can be marked by intellec ...

Beta thalassemia Beta thalassemias (β thalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to cl ...

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 Mowat–Wilson syndrome is a rare genetic disorder that was clinically delineated by David R. Mowat and Meredith J. Wilson in 1998. The condition affects both males and females, has been described in various countries and ethnic groups around the w ...

Snijders Blok-Campeau syndrome Snijders Blok-Campeau syndrome is a genetic disorder caused by mutations in the CHD3 gene. It is characterized by impaired intellectual development, macrocephaly, dysarthria and apraxia of speech, and certain distinctive facial features. Snijd ...

References

External links

{{Medical resources , DiseasesDB = 18724 , ICD10 = , ICD9 = , ICDO = , OMIM = , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , MeshID =
Face in Clinical Medicine
* wikt:facies Medical signs

Types

Other disorders associated with syndromic facies

See also

References

External links