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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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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

The Human Phenotype Ontology provides the following list of signs and symptoms for FACES syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Anteverted nares 90%
Decreased body weight 90%
Finger syndactyly 90%
Genu varum 90%
Midline defect of the nose 90%
Ptosis 90%
Short stature 90%
Abnormal retinal pigmentation 50%
Abnormality of the thyroid gland 50%
Abnormality of the voice 50%
Amyotrophy 50%
Asymmetry of the thorax 50%
Cafe-au-lait spot 50%
Kyphosis 50%
Melanocytic nevus 50%
Pectus excavatum 50%
Scoliosis 50%
Short hard palate 50%
Abnormality of the mitral valve 7.5%
Generalized hypopigmentation 7.5%

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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


Other Names for this Disease
  • Facial features (unique), anorexia, cachexia, eye and skin anomalies
  • Friedman-Goodman syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.