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Diseases

Genetic and Rare Diseases Information Center (GARD)

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FACES syndrome


Other Names for this Disease
  • Facial features (unique), anorexia, cachexia, eye and skin anomalies
  • Friedman-Goodman syndrome
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Overview



What is FACES syndrome?

What are signs and symptoms of FACES syndrome?


What is FACES syndrome?

FACES syndrome, also known as Friedman-Goodman syndrome, is a condition that is characterized by unique Facial features, Anorexia, Cachexia (body wasting) and Eye and Skin lesions. The pattern of inheritance and underlying genetic cause of FACES syndrome has not yet been established. FACES syndrome has only been reported in three members of the same family.[1]
Last updated: 7/6/2011

What are signs and symptoms of FACES syndrome?

FACES syndrome affects various parts of the body.  Facial characteristics of FACES syndrome may include deep-set eyes with mild eyelid drooping (ptosis), fat deposits around the eye (xanthelasma), and a nose with a central groove at the tip.[1]

Individuals with FACES syndrome are extremely thin (cachexia) with severe wasting of their muscles.  In addition, their skin may be affected with freckle-like spots (lentigines) and light brown cafe-au-lait spots. Individuals with FACES syndrome can have bowed legs (genu varum), flat feet (pes planus) and mild webbing of fingers and toes (syndactyly).  Other reported features include nasal speech, vision loss due to retinitis pigmentosa, thyroid problems, and a sunken chest bone (pectus excavatum).[1]
Last updated: 7/6/2011

References
  1. Hennekman R, Krantz I, Allanson J. Gorlin's Syndromes of the Head and Neck. New York, NY: Oxford University Press, Inc; 2010;