The enlarged characteristic face is due to a large supra-orbital ridge that causes frontal bossing, a broad nose and a prominent broad and square lower jaw. Other features include an enlarged tongue and soft tissue swelling of the nose, lips and ears (CHAPTER 23).
Due to mouth breathing in children: a narrow nose/nares, a high-arched palate (the ‘Gothic’ palate), prominent incisor teeth, undershot jaw with a perpetually open mouth and ‘stupid’ expression.
Alcoholic (due to chronic use)
It is important to recognise the characteristic changes as early as possible—a plethoric face, thickened ‘greasy’ skin, telangiectasia, suffused conjunctivae and rosacea. Other features may include rhinophyma, parotid swelling and characteristic changes to the lips and corners of the mouth.
Bird-like (systemic sclerosis: CREST syndrome)
The bird-like features—beaking of the nose, limitation of mouth opening, puckering or furrowing of the lips and a fixed facial expression—are due to binding down of facial skin. Other features include telangiectasia on the face and hands.
Chipmunk (thalassaemia major)
There is bossing of the skull, hypertrophy of the maxillae (which tends to expose the upper teeth), prominent malar eminences and depression of the bridge of the nose. The major haemoglobinopathies cause hyperplasia of the skull and facial bones because of an increase in the bone marrow cavity.
The patient with cholera has a pale face with cold clammy skin, sunken eyes, hollow cheeks and a forlorn, apathetic look (similar to the Hippocratic facies).
The face has a typical ‘moon shape’, plethora, hirsutism (more obvious in women), acne (CHAPTER 23).
Features include unilateral drooping of the corner of the mouth and flattening of the nasolabial fold (CHAPTER 33).
Upper motor neurone (UMN) type: the forehead movement is spared
Lower motor neurone (LMN) type (e.g. Bell palsy, Ramsay–Hunt syndrome): lack of forehead muscle tone
This describes the deathly, mask-like features of advanced peritonitis—sunken eyes; ‘gaunt’ face; ‘collapsed’ temples; dry, crusty lips; and clammy forehead.
Marfanoid (Marfan syndrome)
The typical tall stature, arachnodactyly and chest deformities, combined with the facial features of a subluxation of the lens of the eye and high-arched palate, help to pinpoint the diagnosis (CHAPTER 18).
Mitral (mitral valve disease, especially mitral stenosis)
This is typically shown in flushed or rosy cheeks with a bluish tinge due to dilatation of the malar capillaries. It is associated with pulmonary hypertension.
Mongoloid (Down syndrome)
The facial features include a flat profile, with crowded features, a round head, dysplastic lowset ears, protruding tongue, mongoloid slant of the eyes with epicanthic folds, mouth hanging open and peripheral silver iris spots (Brushfield's spots) (CHAPTER 18).
Myopathic (myopathy/myasthenia gravis)
Facial characteristics include an expressionless, ‘tired’-looking face with bilateral ptosis.
Myotonic (dystrophia myotonia)
Typical features include frontal baldness, expressionless triangular facies, partial ptosis, cataracts and temporal muscle atrophy.
The face usually has an apathetic look and is ‘puffy’ with possible periorbital oedema. There is broadening of the lower part of the face. The skin (not the sclera) may appear yellow (due to hypercarotenaemia) and is generally dry and coarse. Other features may include thin, coarse, listless hair and loss or thinning of the outer third of the eyebrows. The tongue is usually enlarged and the patient speaks with a ‘thickened’, croaking, slow speech (CHAPTER 23).
The distinguishing feature from the ‘moon face’ of Cushing disease is the general roundness and uniform fatness of the face.
The main feature is skull enlargement, notably of the frontal and parietal areas (the head circumference is usually greater than 55 cm, which is abnormal)—the ‘hat doesn't fit any more’ hallmark. Other features include increased bony warmth and deafness (CHAPTER 69).
Characteristic is the mask-like facies with lack of facial expression and fixed unblinking stare. There is immobility of the facial muscles (CHAPTER 33).
Pigmented macules (1–5 mm in diameter) occur on lips, buccal mucosa and fingers.
A grin-like appearance of hypertonic facial muscles (typical of tetanus).
A face older than the years with premature gross wrinkling of the skin, stained teeth, deep raspy voice, ‘loose’ cough, smell of tobacco.
The prominent eyes (sclera may not be covered by the lower eyelid) and conjunctivitis are features of the thyrotoxic patient (CHAPTER 23). The thyroid stare (a frightened expression) may also be present (see FIG. 16.2).
Thyrotoxicosis illustrating a typical thyroid stare
The facial characteristics include ptosis—‘fishlike’ mouth, small chin (micrognathia), low-set ears and deafness. Cardiac lesions include coarctation of the aorta and pulmonary stenosis. Webbing of the neck is the classic sign (CHAPTER 18).
A sallow ‘muddy’ complexion with uraemic fetor—an ammoniacal halitosis.
Other classic facies (similes)
|Bulldog ||Congenital syphilis |
|Chipmunk ||Thalassaemia major |
|Elfin ||William syndrome |
|Fish-like mouth ||Turner syndrome |
|Hatchet ||Dystropia myotonia |
|Death mask ||Peritonitis; cholera |
|Long face ||Fragile X syndrome |
|Mask ||Parkinson: Wilson disease |
|Monkey ||Hypopituitarism |
|Moon ||Cushing syndrome |
|Old man in child ||Marasmus |
|Raccoon ||Basilar skull fracture |