This document describes various medical conditions that present with distinct facial features or "facies". Some of the facies described include: 1. Mask-like facies seen in conditions like Parkinson's disease that result in an expressionless face with lack of facial movement or affect. 2. Elfin facies seen in genetic disorders like Williams syndrome, characterized by wide-set eyes, low-set ears, and hirsutism. 3. Moon facies seen in Cushing's syndrome, caused by increased fat deposition on the sides of the face, giving it a rounded appearance.

1. FACIES IN MEDICINE
DR TRIPTHI
MASK LIKE FACIES
A hypomimic, expressionless
physiognomyor completelack
of facial affect, a finding
characteristic ofParkinson's
disease, which may be seen in
depression, facioscapulao
humeral-type muscular
dystrophy,infantile botulism,
Möbius' syndrome, myotonic
dystrophy,Prader-Willi
disease, Wilson's disease.
ELFIN FACIES
Facial features include
wide-set eyes, low-set ears,
andhirsutism; seen in
children with congenital
conditions such as
leprechaunismand
Williams syndrome.
MOON FACIES
Roundness of the face due to
increasedfat depositionlaterally
seen in patients with
hyperadrenocorticalism,eitherof
endogenous (e.g., Cushing's
disease) or exogenous origin,
such as the use of cortisone-like
drugs as therapy.
SNARLING FACIES
Depictionof a
MYASTHENIC patient. (1)
markedasymmetrical ptosis
(left eye almost closedwith
characteristicallyvisible
eyelashes); (2) conspicuous
attempts toopen eyes clearly
visible due to highly
elevatedeyebrows and(3)
characteristic flattenedor
‘snarling’ smile
MITRAL FACIES
The classic mitral
facies,due to mitral
stenosis,is a plum-
coloredmalar flush,
occurs only when
cardiac output is low
andpulmonary
hypertensionis severe;
cause is cutaneous
vasodilationand
chronic hypoxemia.
ADENOID FACIES
The appearancein children
with adenoidhypertrophy,
associatedwith a pinched
nose andan open mouth
LEONINE FACIES
Characteristicfacies seenin
Lepromatous Leprosy.
Diffuse dermal infiltration is
always present subclinically
andmay be overtlymanifested
by widening of the nasal root
andfusiform swellingof the
fingers. Furthercellular
infiltration o f the skinand
thickeningof thedermis
produces folds in the skin and
the LEONINE facies.
BIRD FACIES
Characteristicfacies seenin
PIERRE ROBIN syndrome. A very
small lower jaw is the commonest
finding. But the growthof the
mandible seems to normalize by
the 5thyearof life and gives a
characteristic appearance calledas
"bird facies."
The combination ofa small lower
jaw andthe reverse tongue gives
rise to acute breathingproblems in
a childbecause of airway blockage
DOWNS FACIES
Associatedwith Downs
Syndrome- Trisomy21
Mongoloidfacies – flat nasal
bridge, epicanthicfolds,
oblique palpebral fissures,
Brushfields spots in iris,
lenticular opacities, lowset
ears, large protuberant tongue.
SYPHILITIC
FACIES
Characteristicof inherited
syphilis. Snuffles, when
longcontinued, is liable to
interfere with the
development of thenasal
bones, so that when the
childgrows up there
results a conditionknown
as the “saddle-nose”
deformity
COARSE FACIES
Coarse facies seen in most of the
inborn errors of metabolism
(IEM) viz. the muco-
polysaccharidoses (MPS),
mucolipidoses (ML), fucosidoses
mannosidoses, sialidoses,
aspartylglycosaminuria,
generalisedgangliosidosis(GMl )
andAustin's variant of
metachromaticleukodystrophy
due to multiple sulfatase
deficiency (MLD-MSD)
POTTER FACIES
Seen in Potter syndrome which
refers to the typical physical
appearance andassociated
pulmonaryhypoplasia of a
neonate as a direct result of
oligohydramnios and
compressionwhile in utero.
Affectedinfants have a
flattenednose,recessedchin,
prominent epicanthal folds, and
low-set abnormal ears.
MARFANOID
FACIES
Seen in Marfans
syndrome or conditions
causinga marfanoid
habitus.
Facies is typicallya long
andnarrow
ACROMEGALIC
FACIES
Seen in Acromegaly .It is
representedby massive
supraorbital arcs,
enlargement ofthe nose
andchin.
HATCHET FACIES
It is the Facial appearanceof
Myotonicdystrophy.Atrophyof
masseter, temporalis andother
facial muscles leads on to
narrowingandelongation of
face.