Facies bovina: The cowlike face of Greig’s syndrome: large cranial vault, huge forehead, high
bregma, and occasional hypertelorism (widely spaced eyes)—all due to an enlarged sphenoid bone. It is
often associated with other congenital deformities, such as osteogenesis imperfecta, syndactyly and
polydactyly, Sprengel’s deformity (scapular elevation), and mental retardation.
Elfin face: An unusually flat face, with broad forehead, hypertelorism, short and upturned nose,
low-set ears that are posteriorly rotated, puffy cheeks, wide mouth, patulous lips, hypoplastic teeth, and a
deep husky voice. Patients are mentally retarded, but with a sweet and friendly personality. They are also
typically short, and with congenital supravalvar aortic stenosis. Hypercalcemia may be present. First described by Williams in 1961.
Cherubic face: The child-like face of cherubism, a familial fibrous dysplasia of the jaws, with enlargement in childhood and regression in adulthood. Also seen in forms of glycogenosis.
Hound-dog face: The face of cutis laxa (dermatochalasis), a degenerative disease of elastic
fibers, with skin progressively loose and hanging in folds—like that of a hound dog. Premature aging is
common, and so are vascular abnormalities, gastrointestinal/bladder diverticula, and pulmonary
emphysema. The face has an antimongoloid slant, slightly everted nostrils, prominent ears, and
epicanthic folds. In contrast to Ehlers-Danlos syndrome, there is no joint laxity.
Hurloid face: The coarse and gargoyle-like face of Hurler’s syndrome (mucopolysaccharidosis type I,
described in 1919 by the German pediatrician Gertrud Hurler). Because of lack of L-iduronidase,
these patients accumulate intracellular deposits, with abnormal skeletal cartilage and bone, dwarfism,
kyphosis, deformed limbs, limited joint motion, spade-like hands, corneal clouding, hepatosplenomegaly, mental retardation, and, of course, a gargoyle-like face.
Morquio’s face: The bizarre face of Morquio syndrome (mucopolysaccharidosis type IV). Like
Hurler’s, this is also associated with short stature, but intelligence is normal. The face is coarse, with
corneal clouding, large mouth, anteverted nose, and short neck. In addition, there may be chest and limb
deformities (short and kyphotic trunk, pectus carinatum, protruded abdomen, and genu valgum), hepatosplenomegaly, urinary excretion of mucopolysaccharides, and neutrophils with
intracytoplasmic metachromatic granules (Alder- Reilly bodies). Severe spinal defects may eventually
lead to fatal cord compression and respiratory failure.
Potter’s face: The characteristic facies of bilateral renal agenesis (Potter’s syndrome) and other kidney
malformations: hypertelorism, prominent epicanthal folds, low-set ears, receding chin, and flattened nose.
There may also be pulmonary hypoplasia and cardiac malformations (ventricular septal defect, endocardial
cushion defect, tetralogy of Fallot, and patent ductus arteriosus).
Facies leonina: Also referred to as leontiasis, from the lion-like appearance. It is the face of advanced
lepromatous leprosy, with prominent ridges and furrows of forehead and cheeks.
Facies antonina: Another face of leprosy, with alterations in the eyelids and the anterior eye.
Scaphoid face: From the Greek scaphos (boatshaped, hollowed), this is the dish-like facial malformation of leprosy: protuberant forehead, prominent chin, depressed nose and maxilla.
Tetanus face: The risus sardonicus of tetanus (sardonic grin in Latin): open mouth with transversally tightened lips, resembling the smirk of Batman’s menace—the Joker.
Renal face: The face of chronic renal failure. Very similar to that of myxedema, except that the swelling
is not due to accumulation of connective tissue but of water (hypoproteinemia).
Myxedematous face: Puffy and sallow facies from carotene accumulation, with coarse hair, boggy eyes,
and dry, rough skin. The lateral third of the eyebrows is often missing.
Graves’ face: A typical and anxious-looking face, with exophthalmos and lid lag.
Acromegalic face: Coarse facial features, thick bones, prominent mandible, protruding supraciliary
areas, large nose and lips. From the Greek akron (extremity) and megalos (large), it is characterized by
enlargement of the body’s peripheral parts: head, face, hands, and feet.
Cushing’s face: A typical moon face: round, plethoric, oily, and ruddy. Acne, alopecia, and an
increase in facial hair may also occur, as well as buffalo hump, buccal fat pads, striae, and central
obesity.
Scleroderma face: The facies of progressive systemic sclerosis—sharp nose and skin so tightly
drawn that wrinkles disappear. Most patients also have hyperpigmentation, with patches of vitiligo and
a few telangiectasias. Mouth opening is often quite narrow.
Facies of lupus erythematosus: Malar and butterfly like rash across the bridge of the nose.
Aortic face: The pale and sallow face of early aortic regurgitation (AR).
Corvisart’s face: The characteristic facies of advanced AR or full-blown congestive heart failure--
puffy, cyanotic, with swollen eyelids, and shiny eyes. First described by Jean Nicolas Corvisart, physician
to Napoleon, Laënnec’s teacher, and percussion zealot.
De Musset’s face (or sign): Bobbing motion of the head, synchronous with each heartbeat, and
“diagnostic” of AR. First described in the French poet Alfred De Musset, it is neither sensitive nor
specific, since it can also occur in patients with very large stroke volume (i.e., hyperkinetic heart
syndrome) and even a massive left pleural effusion. A variant of De Musset’s can occur in tricuspid
regurgitation, even though in this case the systolic bobbing tends to be more lateral because of
regurgitation along the superior vena cava.
Mitral face: The acrocyanotic face of mitral stenosis (MS). Due to peripheral desaturation from low and
fixed cardiac output, it typically affects the distal parts of the body (akros, distal in Greek): nose tip,
earlobes, cheeks, hands, and feet. When MS evolves into right-sided heart failure and tricuspid
regurgitation (from longstanding pulmonary hypertension), the skin turns sallow and often overtly
icteric. This contrasts markedly with the cyanotic hue of the cheeks.
Parkinson’s face: The mask-like facies of Parkinson’s. It has a fixed and apathetic look.
Steinert’s face: The expressionless facies of myotonic dystrophy (Steinert’s disease)—frontal
balding, cataracts, bilateral temporal muscle wasting, thin and beak-like nose, and tenting of the upper lip
with tendency of the mouth to hang over.
Myasthenic face: The facies of myasthenia gravis, with sagging mouth corners and drooping eyelids
(ptosis). Weak facial muscles result in paucity of expression (apathetic look).
Myopathic face: Seen in congenital myopathies. Similar to the myasthenic face—protruding lips,
drooping eyelids, ophthalmoplegia, and a relaxation of facial muscles (Hutchinson’s face).
Battle’s sign: The classic traumatic bruise over/behind the mastoid process. Due to basilar skull
fracture with bleeding into the middle fossa. Can present at times as blood behind the eardrum. Battle’s
sign may occur on the ipsilateral or contralateral side of the skull fracture and can take as long as 3–12
days to appear. It has low sensitivity (2–8%) but 100% predictive value.
Raccoon eyes: Periorbital bruises from external trauma to the eyes, skull fracture, and intracranial
bleeding. Raccoon eyes may also occur in amyloidosis as a result of capillary fragility. In this
case, the leak is often precipitated by a Valsalva mediated increase in central venous pressure. This
can be involuntary, as the one induced by proctoscopy.
Hippocratic face: A tense and dramatic expression, with sunken eyes, sharp nose, hollow cheeks, fallenin
temples, open mouth, dry and cracked lips, cold and drawn ears, and a leaden complexion. First
described by Hippocrates in protracted and terminal illnesses.
Facies adenoid: The long, open-mouthed, and dumblooking face of children with adenoidal hypertrophy.
The mouth is open (because upper airway congestion renders them obligatory mouth-breathers); the nares
are narrow, and the nose is pinched. Although typically adenoidal, this facies can also occur in
recurrent upper respiratory tract allergies. Features include (1) Dennie’s lines (horizontal creases under
both lower lids, named after the American Charles Dennie); (2) nasal pleat (the horizontal crease above the tip of the nose, due to the recurrent upward wiping of nasal secretions by either palm or dorsum
of hand—“the allergic salute”); and (3) allergic shiners (bilateral infraorbital shadows due to chronic venous congestion).
Rhinophyma: A typical facial feature, immortalized by Ghirlandaio in his 1480 Louvre painting of an old
man with grandson and then involuntarily popularized by W.C. Fields’ potato nose.
Saddle nose: The congenital (or acquired) erosive indentation of the nasal bone and cartilage. Due to
congenital syphilis, Wegener’s granulomatosis, and relapsing polychondritis.
Smoker’s face: A facies that is becoming increasingly familiar as a result of the tobacco epidemic. It is characterized by coarse features and a wrinkled, grayish, and atrophic skin that makes smokers look older. In fact, comparing smokers to nonsmokers may provide a much more effective prevention for teens (especially girls) than quoting the latest cancer statistics.
bregma, and occasional hypertelorism (widely spaced eyes)—all due to an enlarged sphenoid bone. It is
often associated with other congenital deformities, such as osteogenesis imperfecta, syndactyly and
polydactyly, Sprengel’s deformity (scapular elevation), and mental retardation.
Elfin face: An unusually flat face, with broad forehead, hypertelorism, short and upturned nose,
low-set ears that are posteriorly rotated, puffy cheeks, wide mouth, patulous lips, hypoplastic teeth, and a
deep husky voice. Patients are mentally retarded, but with a sweet and friendly personality. They are also
typically short, and with congenital supravalvar aortic stenosis. Hypercalcemia may be present. First described by Williams in 1961.
Cherubic face: The child-like face of cherubism, a familial fibrous dysplasia of the jaws, with enlargement in childhood and regression in adulthood. Also seen in forms of glycogenosis.
Hound-dog face: The face of cutis laxa (dermatochalasis), a degenerative disease of elastic
fibers, with skin progressively loose and hanging in folds—like that of a hound dog. Premature aging is
common, and so are vascular abnormalities, gastrointestinal/bladder diverticula, and pulmonary
emphysema. The face has an antimongoloid slant, slightly everted nostrils, prominent ears, and
epicanthic folds. In contrast to Ehlers-Danlos syndrome, there is no joint laxity.
Hurloid face: The coarse and gargoyle-like face of Hurler’s syndrome (mucopolysaccharidosis type I,
described in 1919 by the German pediatrician Gertrud Hurler). Because of lack of L-iduronidase,
these patients accumulate intracellular deposits, with abnormal skeletal cartilage and bone, dwarfism,
kyphosis, deformed limbs, limited joint motion, spade-like hands, corneal clouding, hepatosplenomegaly, mental retardation, and, of course, a gargoyle-like face.
Morquio’s face: The bizarre face of Morquio syndrome (mucopolysaccharidosis type IV). Like
Hurler’s, this is also associated with short stature, but intelligence is normal. The face is coarse, with
corneal clouding, large mouth, anteverted nose, and short neck. In addition, there may be chest and limb
deformities (short and kyphotic trunk, pectus carinatum, protruded abdomen, and genu valgum), hepatosplenomegaly, urinary excretion of mucopolysaccharides, and neutrophils with
intracytoplasmic metachromatic granules (Alder- Reilly bodies). Severe spinal defects may eventually
lead to fatal cord compression and respiratory failure.
Potter’s face: The characteristic facies of bilateral renal agenesis (Potter’s syndrome) and other kidney
malformations: hypertelorism, prominent epicanthal folds, low-set ears, receding chin, and flattened nose.
There may also be pulmonary hypoplasia and cardiac malformations (ventricular septal defect, endocardial
cushion defect, tetralogy of Fallot, and patent ductus arteriosus).
Facies leonina: Also referred to as leontiasis, from the lion-like appearance. It is the face of advanced
lepromatous leprosy, with prominent ridges and furrows of forehead and cheeks.
Facies antonina: Another face of leprosy, with alterations in the eyelids and the anterior eye.
Scaphoid face: From the Greek scaphos (boatshaped, hollowed), this is the dish-like facial malformation of leprosy: protuberant forehead, prominent chin, depressed nose and maxilla.
Tetanus face: The risus sardonicus of tetanus (sardonic grin in Latin): open mouth with transversally tightened lips, resembling the smirk of Batman’s menace—the Joker.
Renal face: The face of chronic renal failure. Very similar to that of myxedema, except that the swelling
is not due to accumulation of connective tissue but of water (hypoproteinemia).
Myxedematous face: Puffy and sallow facies from carotene accumulation, with coarse hair, boggy eyes,
and dry, rough skin. The lateral third of the eyebrows is often missing.
Graves’ face: A typical and anxious-looking face, with exophthalmos and lid lag.
Acromegalic face: Coarse facial features, thick bones, prominent mandible, protruding supraciliary
areas, large nose and lips. From the Greek akron (extremity) and megalos (large), it is characterized by
enlargement of the body’s peripheral parts: head, face, hands, and feet.
Cushing’s face: A typical moon face: round, plethoric, oily, and ruddy. Acne, alopecia, and an
increase in facial hair may also occur, as well as buffalo hump, buccal fat pads, striae, and central
obesity.
Scleroderma face: The facies of progressive systemic sclerosis—sharp nose and skin so tightly
drawn that wrinkles disappear. Most patients also have hyperpigmentation, with patches of vitiligo and
a few telangiectasias. Mouth opening is often quite narrow.
Facies of lupus erythematosus: Malar and butterfly like rash across the bridge of the nose.
Aortic face: The pale and sallow face of early aortic regurgitation (AR).
Corvisart’s face: The characteristic facies of advanced AR or full-blown congestive heart failure--
puffy, cyanotic, with swollen eyelids, and shiny eyes. First described by Jean Nicolas Corvisart, physician
to Napoleon, Laënnec’s teacher, and percussion zealot.
De Musset’s face (or sign): Bobbing motion of the head, synchronous with each heartbeat, and
“diagnostic” of AR. First described in the French poet Alfred De Musset, it is neither sensitive nor
specific, since it can also occur in patients with very large stroke volume (i.e., hyperkinetic heart
syndrome) and even a massive left pleural effusion. A variant of De Musset’s can occur in tricuspid
regurgitation, even though in this case the systolic bobbing tends to be more lateral because of
regurgitation along the superior vena cava.
Mitral face: The acrocyanotic face of mitral stenosis (MS). Due to peripheral desaturation from low and
fixed cardiac output, it typically affects the distal parts of the body (akros, distal in Greek): nose tip,
earlobes, cheeks, hands, and feet. When MS evolves into right-sided heart failure and tricuspid
regurgitation (from longstanding pulmonary hypertension), the skin turns sallow and often overtly
icteric. This contrasts markedly with the cyanotic hue of the cheeks.
Parkinson’s face: The mask-like facies of Parkinson’s. It has a fixed and apathetic look.
Steinert’s face: The expressionless facies of myotonic dystrophy (Steinert’s disease)—frontal
balding, cataracts, bilateral temporal muscle wasting, thin and beak-like nose, and tenting of the upper lip
with tendency of the mouth to hang over.
Myasthenic face: The facies of myasthenia gravis, with sagging mouth corners and drooping eyelids
(ptosis). Weak facial muscles result in paucity of expression (apathetic look).
Myopathic face: Seen in congenital myopathies. Similar to the myasthenic face—protruding lips,
drooping eyelids, ophthalmoplegia, and a relaxation of facial muscles (Hutchinson’s face).
Battle’s sign: The classic traumatic bruise over/behind the mastoid process. Due to basilar skull
fracture with bleeding into the middle fossa. Can present at times as blood behind the eardrum. Battle’s
sign may occur on the ipsilateral or contralateral side of the skull fracture and can take as long as 3–12
days to appear. It has low sensitivity (2–8%) but 100% predictive value.
Raccoon eyes: Periorbital bruises from external trauma to the eyes, skull fracture, and intracranial
bleeding. Raccoon eyes may also occur in amyloidosis as a result of capillary fragility. In this
case, the leak is often precipitated by a Valsalva mediated increase in central venous pressure. This
can be involuntary, as the one induced by proctoscopy.
Hippocratic face: A tense and dramatic expression, with sunken eyes, sharp nose, hollow cheeks, fallenin
temples, open mouth, dry and cracked lips, cold and drawn ears, and a leaden complexion. First
described by Hippocrates in protracted and terminal illnesses.
Facies adenoid: The long, open-mouthed, and dumblooking face of children with adenoidal hypertrophy.
The mouth is open (because upper airway congestion renders them obligatory mouth-breathers); the nares
are narrow, and the nose is pinched. Although typically adenoidal, this facies can also occur in
recurrent upper respiratory tract allergies. Features include (1) Dennie’s lines (horizontal creases under
both lower lids, named after the American Charles Dennie); (2) nasal pleat (the horizontal crease above the tip of the nose, due to the recurrent upward wiping of nasal secretions by either palm or dorsum
of hand—“the allergic salute”); and (3) allergic shiners (bilateral infraorbital shadows due to chronic venous congestion).
Rhinophyma: A typical facial feature, immortalized by Ghirlandaio in his 1480 Louvre painting of an old
man with grandson and then involuntarily popularized by W.C. Fields’ potato nose.
Saddle nose: The congenital (or acquired) erosive indentation of the nasal bone and cartilage. Due to
congenital syphilis, Wegener’s granulomatosis, and relapsing polychondritis.
Smoker’s face: A facies that is becoming increasingly familiar as a result of the tobacco epidemic. It is characterized by coarse features and a wrinkled, grayish, and atrophic skin that makes smokers look older. In fact, comparing smokers to nonsmokers may provide a much more effective prevention for teens (especially girls) than quoting the latest cancer statistics.