elfin facies syndrome

elfin facies syndrome
Williams s.

Medical dictionary. 2011.

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  • Elfin facies — is a form of facies where the patient presents with facial characteristics bearing some similarities to those traditionally associated with elves. Because of imprecision inherent in such as definition, as well as the potential for offense, it is… …   Wikipedia

  • elfin facies — facial features including wide set eyes, low set ears, and hirsutism; seen in children with congenital conditions such as Donohue syndrome and Williams syndrome …   Medical dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Facies — A direct borrowing from the Latin, facies means face. * * * 1. [TA] SYN: face (1). 2. [NA] SYN: surface. 3. SYN: expression (2). [L.] acromial articular f. of clavicle SYN: acromial facet of clavicle. adenoid f. the open mouthed and often …   Medical dictionary

  • Williams syndrome — Wil·liams syndrome wil yəmz n a rare genetic disorder characterized esp. by hypercalcemia of infants, heart defects (as supravalvular aortic stenosis), characteristic facial features (as an upturned nose, long philtrum, wide mouth, full lips, and …   Medical dictionary

  • Donohue syndrome — a rare, lethal, autosomal recessive condition caused by mutation in the INSR gene (locus: 19p13.2), which encodes the insulin receptor, characterized by slow physical and mental development, elfin facies, and endocrine abnormalities such as… …   Medical dictionary

  • leprechaunism — A congenital form of dwarfism characterized by extreme growth retardation, endocrine disorders, and emaciation, with elfin facies and large, low set ears; autosomal recessive inheritance; caused by mutat …   Medical dictionary

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