MCID: FCS005
MIFTS: 32

Faces Syndrome malady

Rare diseases, Skin diseases categories

Summaries for Faces Syndrome

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Sources:
44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 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. last updated: 7/6/2011

MalaCards: Faces Syndrome, also known as friedman-goodman syndrome, is related to velocardiofacial syndrome and freeman sheldon syndrome, and has symptoms including cafe-au-lait spot, genu varum and diffuse/generalised skin hypopigmentation/cutaneous albinism. Affiliated tissues include skin, eye and thyroid.

Wikipedia:66 FACES syndrome is a syndrome of unique facial features, anorexia, cachexia, eye and skin anomalies. more...

Aliases & Classifications for Faces Syndrome

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44NIH Rare Diseases, 50Orphanet, 63UMLS, 64UMLS via Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases


Aliases & Descriptions:

faces syndrome 44 50
friedman-goodman syndrome 44 50
facial features , anorexia, cachexia, eye and skin anomalies 44
acrocephalopolysyndactyly type iv 63
friedman goodman syndrome 44


External Ids:

UMLS via Orphanet64 C2931183
MESH via Orphanet37 C536384
ICD10 via Orphanet27 Q87.0

Related Diseases for Faces Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Faces Syndrome:



Diseases related to faces syndrome

Symptoms for Faces Syndrome

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50Orphanet
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Symptoms:

50 (show all 21)
  • cafe-au-lait spot
  • genu varum
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • thyroid anomalies
  • asymmetric rib cage/thorax
  • short palate
  • bifid tip/cleft nose/supernumerary nose
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • syndactyly of fingers/interdigital palm
  • scoliosis
  • ptosis
  • kyphosis
  • autosomal dominant inheritance
  • pigmented naevi/naevus pigmentosus/lentigo
  • retinitis pigmentosa/retinal pigmentary changes
  • anteverted nares/nostrils
  • short stature/dwarfism/nanism
  • abnormal cry/voice/phonation disorder/nasal speech
  • pectus excavatum

Drugs & Therapeutics for Faces Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Faces Syndrome

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Anatomical Context for Faces Syndrome

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34MalaCards
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MalaCards organs/tissues related to Faces Syndrome:

34
Skin, Eye, Thyroid, Kidney

Animal Models for Faces Syndrome or affiliated genes

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Publications for Faces Syndrome

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53PubMed
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Articles related to Faces Syndrome:

(show all 19)
idTitleAuthorsYear
1
A multidisciplinary approach to the management of long-face syndrome and bilateral microtia. (24225142)
2013
2
Frontonasal dysplasia (Median cleft face syndrome). (22346197)
2012
3
22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. (11801894)
2001
4
Williams syndrome(Williams-Beuren syndrome), elfin face syndrome]. (11057222)
2000
5
Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. (11050622)
2000
6
Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). (9082929)
1997
7
Freeman-Sheldon syndrome (whistling face syndrome) and cranio-vertebral junction malformation producing dysphagia and weight loss. (8933572)
1996
8
Median cleft face syndrome in association with hydrocephalus, agenesis of the corpus callosum, holoprosencephaly and choanal atresia. (3595651)
1987
9
Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-FranAsois syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome. (3934624)
1985
10
Contrasting mandibular growth and facial development in long face syndrome, juvenile rheumatoid polyarthritis, and mandibulofacial dysostosis. (3877091)
1985
11
Septo-optic dysplasia and median cleft face syndrome. (6741901)
1984
12
Septo-optic dysplasia and median cleft face syndrome in a patient with isolated growth hormone deficiency and hyperprolactinemia. (6846278)
1983
13
Robinow syndrome (Fetal Face syndrome). (6676283)
1983
14
Median cleft face syndrome or frontonasal dysplasia: a case report with associated kidney malformation. (438926)
1979
15
Hypersomnia with periodic apneas in acquired micrognathia. A bird-like face syndrome. (985155)
1976
16
Fetal face syndrome with acral dysostosis. (4838165)
1974
17
Median cleft face syndrome (frontonasal dysplasia). (4809799)
1974
18
Frontonasal dysplasia (median cleft face syndrome): comments on etiology and pathogenesis. (5173199)
1971
19
Gellis SS, Feingold M: Picture of the month: Crano-carpo-tarsal dystrophy. (Whistling face syndrome, Freeman-Sheldon Syndrome). (5434592)
1970

Variations for Faces Syndrome

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Expression for genes affiliated with Faces Syndrome

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16Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Faces Syndrome.

Pathways for genes affiliated with Faces Syndrome

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Compounds for genes affiliated with Faces Syndrome

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GO Terms for genes affiliated with Faces Syndrome

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Products for genes affiliated with Faces Syndrome

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  • Antibodies
  • Proteins
  • Lysates
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Sources for Faces Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet