MCID: FCS005
MIFTS: 31

Faces Syndrome malady

Rare diseases, Skin diseases categories
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Summaries for Faces Syndrome

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NIH Rare Diseases:42 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 based summary: Faces Syndrome, also known as friedman-goodman syndrome, is related to velocardiofacial syndrome and frontonasal dysplasia, and has symptoms including ptosis, bifid tip/cleft nose/supernumerary nose and anteverted nares/nostrils. Affiliated tissues include skin, eye and thyroid.

Wikipedia:65 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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Sources:
42NIH Rare Diseases, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Faces Syndrome, Aliases & Descriptions:

Name: Faces Syndrome 42 48
Friedman-Goodman Syndrome 42 48
Facial Features , Anorexia, Cachexia, Eye and Skin Anomalies 42
 
Acrocephalopolysyndactyly Type Iv 62
Friedman Goodman Syndrome 42


Classifications:

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


External Ids:

MESH via Orphanet35 C536384
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet63 C2931183

Related Diseases for Faces Syndrome

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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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Symptoms:

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

HPO human phenotypes related to Faces Syndrome:

(show all 20)
id Description Frequency HPO Source Accession
1 anteverted nares hallmark (90%) HP:0000463
2 ptosis hallmark (90%) HP:0000508
3 genu varum hallmark (90%) HP:0002970
4 midline defect of the nose hallmark (90%) HP:0004122
5 short stature hallmark (90%) HP:0004322
6 decreased body weight hallmark (90%) HP:0004325
7 finger syndactyly hallmark (90%) HP:0006101
8 pectus excavatum typical (50%) HP:0000767
9 abnormality of the thyroid gland typical (50%) HP:0000820
10 cafe-au-lait spot typical (50%) HP:0000957
11 melanocytic nevus typical (50%) HP:0000995
12 asymmetry of the thorax typical (50%) HP:0001555
13 abnormality of the voice typical (50%) HP:0001608
14 scoliosis typical (50%) HP:0002650
15 kyphosis typical (50%) HP:0002808
16 amyotrophy typical (50%) HP:0003202
17 abnormal retinal pigmentation typical (50%) HP:0007703
18 short hard palate typical (50%) HP:0010290
19 abnormality of the mitral valve occasional (7.5%) HP:0001633
20 generalized hypopigmentation occasional (7.5%) HP:0007513

Drugs & Therapeutics for Faces Syndrome

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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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MalaCards organs/tissues related to Faces Syndrome:

32
Skin, Eye, Thyroid, Kidney

Animal Models for Faces Syndrome or affiliated genes

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Publications for Faces Syndrome

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Articles related to Faces Syndrome:

(show all 20)
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
Anterior basal encephalocele in the median cleft face syndrome. Comments on nosology and treatment. (2080994)
1990
9
Median cleft face syndrome in association with hydrocephalus, agenesis of the corpus callosum, holoprosencephaly and choanal atresia. (3595651)
1987
10
Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-FranAsois syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome. (3934624)
1985
11
Contrasting mandibular growth and facial development in long face syndrome, juvenile rheumatoid polyarthritis, and mandibulofacial dysostosis. (3877091)
1985
12
Septo-optic dysplasia and median cleft face syndrome. (6741901)
1984
13
Septo-optic dysplasia and median cleft face syndrome in a patient with isolated growth hormone deficiency and hyperprolactinemia. (6846278)
1983
14
Robinow syndrome (Fetal Face syndrome). (6676283)
1983
15
Median cleft face syndrome or frontonasal dysplasia: a case report with associated kidney malformation. (438926)
1979
16
Hypersomnia with periodic apneas in acquired micrognathia. A bird-like face syndrome. (985155)
1976
17
Fetal face syndrome with acral dysostosis. (4838165)
1974
18
Median cleft face syndrome (frontonasal dysplasia). (4809799)
1974
19
Frontonasal dysplasia (median cleft face syndrome): comments on etiology and pathogenesis. (5173199)
1971
20
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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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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Sources for Faces Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet