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Disease Profile

FACES syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

No data available

ICD-10

Q87.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Facial features (unique), anorexia, cachexia, eye and skin anomalies; Friedman-Goodman syndrome

Categories

Congenital and Genetic Diseases

Summary

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]

Symptoms

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]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Anorexia
0002039
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Cachexia
Wasting syndrome
0004326
Finger syndactyly
0006101
Genu varum
Outward bow-leggedness
Outward bowing at knees

[ more ]

0002970
Midline defect of the nose
0004122
Ptosis
Drooping upper eyelid
0000508
Short stature
Decreased body height
Small stature

[ more ]

0004322
30%-79% of people have these symptoms
Abnormality of retinal pigmentation
0007703
Abnormality of the thyroid gland
Thyroid abnormality
0000820
Abnormality of the voice
Voice abnormality
0001608
Asymmetry of the thorax
Asymmetric chest
0001555
Kyphosis
Hunched back
Round back

[ more ]

0002808
Melanocytic nevus
Beauty mark
0000995
Multiple cafe-au-lait spots
0007565
Pectus excavatum
Funnel chest
0000767
Scoliosis
0002650
Short hard palate
0010290
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
5%-29% of people have these symptoms
Abnormal mitral valve morphology
0001633
Generalized hypopigmentation
Fair skin
Pale pigmentation

[ more ]

0007513

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss FACES syndrome. Click on the link to view a sample search on this topic.

References

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

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