FACES Syndrome

Common Name(s)

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.
 

Advocacy and Support Organizations

 

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "FACES Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "FACES Syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

Sweet's syndrome: one disease, multiple faces.
 

Author(s): Yusuf Kasirye, Rebecca S Danhof, Narendranath Epperla, Romel J Garcia-Montilla

Journal: Clin Med Res. 2011 Nov;9(3-4):134-6.

 

Last Updated: 17 Nov 2011

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Amygdala response to faces parallels social behavior in Williams syndrome.
 

Author(s): Brianna M Paul, Abraham Z Snyder, Frank Haist, Marcus E Raichle, Ursula Bellugi, Joan Stiles

Journal: Soc Cogn Affect Neurosci. 2009 Sep;4(3):278-85.

 

Individuals with Williams syndrome (WS), a genetically determined disorder, show relatively strong face-processing abilities despite poor visuospatial skills and depressed intellectual function. Interestingly, beginning early in childhood they also show an unusually high level of ...

Last Updated: 18 Aug 2009

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Brief report: Visual processing of faces in individuals with fragile X syndrome: an eye tracking study.
 

Author(s): Faraz Farzin, Susan M Rivera, David Hessl

Journal: J Autism Dev Disord. 2009 Jun;39(6):946-52.

 

Gaze avoidance is a hallmark behavioral feature of fragile X syndrome (FXS), but little is known about whether abnormalities in the visual processing of faces, including disrupted autonomic reactivity, may underlie this behavior. Eye tracking was used to record fixations and pupil ...

Last Updated: 15 May 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "FACES Syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature.
 

Author(s): Pınar Gençpınar, Balahan B Makay, Marco Gattorno, Francesco Caroli, Erbil Ünsal

Journal: Turk. J. Pediatr.. ;54(6):641-4.

 

The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase enzyme. HIDS is characterized by recurrent fever attacks of 3-7 days that begin in infancy and recur every 4-6 weeks. The ...

Last Updated: 22 May 2013

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The many faces of posterior reversible encephalopathy syndrome.
 

Author(s): C J Stevens, M K S Heran

Journal: Br J Radiol. 2012 Dec;85(1020):1566-75.

 

The classic imaging findings of posterior reversible encephalopathy syndrome (PRES) are of bilateral parietal and occipital subcortical vasogenic oedema, and are well established in the literature. As experience with PRES grows, varied and atypical presentations are being increasingly ...

Last Updated: 23 Nov 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Molecular Investigations Into Ciliopathies
 

Status: Recruiting

Condition Summary: Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

 

Last Updated: 14 Mar 2014

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Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders
 

Status: Recruiting

Condition Summary: Brain Disorders; Birth Defects; Craniofacial Differences

 

Last Updated: 15 Mar 2014

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UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
 

Status: Recruiting

Condition Summary: Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

 

Last Updated: 12 Jan 2014

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