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The Hippocratic facies is the change produced in the face recognisable as a medical sign known as facies and prognostic of death. It may also be seen as due to long illness, excessive defecation, or excessive hunger, when it can be differentiated from the sign of impending death..
"[If the patient's facial] appearance may be described thus: the nose sharp, the eyes sunken, the temples fallen in, the ears cold and drawn in and their lobes distorted, the skin of the face hard, stretched and dry, and the colour of the face pale or dusky ... and if there is no improvement within [a prescribed period of time], it must be realized that this sign portends death."
Cachexia is a complex syndrome associated with an underlying illness, causing ongoing muscle loss that is not entirely reversed with nutritional supplementation. A range of diseases can cause cachexia, most commonly cancer, congestive heart failure, chronic obstructive pulmonary disease, chronic kidney disease, and AIDS. Systemic inflammation from these conditions can cause detrimental changes to metabolism and body composition. In contrast to weight loss from inadequate caloric intake, cachexia causes mostly muscle loss instead of fat loss. Diagnosis of cachexia can be difficult due to the lack of well-established diagnostic criteria. Cachexia can improve with treatment of the underlying illness but other treatment approaches have limited benefit. Cachexia is associated with increased mortality and poor quality of life.
A unibrow is a single eyebrow created when the two eyebrows meet in the middle above the bridge of the nose. The hair above the bridge of the nose is of the same color and thickness as the eyebrows, such that they converge to form one uninterrupted line of hair.
SHORT syndrome is an uncommon autosomal-dominant condition marked by ocular depression, Rieger anomaly, teething delay, small height, hyperextensibility of joints, and/or hernias. It was characterized in 1975.
Asymmetric crying facies (ACF), also called partial unilateral facial paresis and hypoplasia of depressor angula oris muscle, is a minor congenital anomaly caused by agenesis or hypoplasia of the depressor anguli oris muscle, one of the muscles that control the movements of the lower lip. This unilateral facial weakness is first noticed when the infant cries or smiles, affecting only one corner of the mouth and occurs on the left side in nearly 80% of cases.
Parry–Romberg syndrome (PRS) is a rare disease presenting in early childhood characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face but occasionally extending to other parts of the body. An autoimmune mechanism is suspected, and the syndrome may be a variant of localized scleroderma, but the precise cause and pathogenesis of this acquired disorder remains unknown. It has been reported in the literature as a possible consequence of sympathectomy. The syndrome has a higher prevalence in females and typically appears between 5 and 15 years of age. There has been only one case report of the syndrome appearing in older adults: a 43-year-old woman with symptoms appearing at the age of 33.
Aarskog–Scott syndrome (AAS) is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. This condition mainly affects males, although females may have mild features of the syndrome.
Frontonasal dysplasia (FND) is a congenital malformation of the midface. For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism, a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele or V-shaped hair pattern on the forehead. The cause of FND remains unknown. FND seems to be sporadic (random) and multiple environmental factors are suggested as possible causes for the syndrome. However, in some families multiple cases of FND were reported, which suggests a genetic cause of FND.
In medical contexts, a facies is a distinctive facial expression or appearance associated with a specific medical condition. The term comes from Latin for "face". As a fifth declension noun, facies can be both singular and plural.
Coarse facial features is a constellation of facial features that are present in many inborn errors of metabolism.
Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags.
A facial cleft is an opening or gap in the face, or a malformation of a part of the face. Facial clefts is a collective term for all sorts of clefts. All structures like bone, soft tissue, skin etc. can be affected. Facial clefts are extremely rare congenital anomalies. There are many variations of a type of clefting and classifications are needed to describe and classify all types of clefting. Facial clefts hardly ever occur isolated; most of the time there is an overlap of adjacent facial clefts.
PHACE syndrome is a medical condition characterized by uncommon associations between birth defects of the brain, skin, arteries, heart and eyes. "PHACE" is an acronym for the parts of the body the syndrome usually impacts:
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 abnormality." Its diagnosis, symptomology and treatments are complex and controversial. Indeed, even its existence as a "syndrome" is disputed.
Anamorelin (INN), also known as anamorelin hydrochloride, is a non-peptide, orally-active, centrally-penetrant, selective agonist of the ghrelin/growth hormone secretagogue receptor (GHSR) with appetite-enhancing and anabolic effects which is under development by Helsinn Healthcare SA for the treatment of cancer cachexia and anorexia.
Hand and foot deformity with flat facies is a rare congenital malformation syndrome, where an individual has features such as facial dysmorphism, short stature, and other malformations with the limbs.
Aortic arch anomaly - peculiar facies - intellectual disability is a rare, genetic, congenital developmental anomaly that is characterized by heart abnormalities, cranio-facial dysmorphia, and intellectual disabilities. No new cases have been reported since 1968.
References
- ↑ Friedman, E.; Goodman, R. M. (1984). "The "FACES" syndrome: a new syndrome with unique facies, anorexia, cachexia, and eye and skin lesions". Journal of Craniofacial Genetics and Developmental Biology. 4 (3): 227–231. ISSN 0270-4145. PMID 6438152.
- ↑ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Facial dysmorphism anorexia cachexia eye and skin anomalies syndrome". www.orpha.net.
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