Facies

"Facies" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)

Descriptor ID

D019066

MeSH Number(s)

C23.550.291.812

E01.370.600.230

Concept/Terms

Facies

Below are MeSH descriptors whose meaning is more general than "Facies".

Diseases [C]
Pathological Conditions, Signs and Symptoms [C23]
Pathologic Processes [C23.550]
Disease Attributes [C23.550.291]
Facies [C23.550.291.812]
Analytical, Diagnostic and Therapeutic Techniques and Equipment [E]
Diagnosis [E01]
Diagnostic Techniques and Procedures [E01.370]
Physical Examination [E01.370.600]
Facies [E01.370.600.230]

Below are MeSH descriptors whose meaning is more specific than "Facies".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Facies" by people in Harvard Catalyst Profiles by year, and whether "Facies" was a major or minor topic of these publication.

Bar chart showing 120 publications over 26 distinct years, with a maximum of 13 publications in 2019

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1996	0	1	1
1997	0	1	1
1999	0	1	1
2000	0	1	1
2001	0	1	1
2002	1	0	1
2003	0	2	2
2004	2	1	3
2005	0	3	3
2007	1	0	1
2008	1	1	2
2009	1	1	2
2010	0	3	3
2011	1	2	3
2012	0	7	7
2013	1	4	5
2014	0	7	7
2015	2	10	12
2016	1	7	8
2017	2	6	8
2018	1	11	12
2019	1	12	13
2020	1	7	8
2021	0	4	4
2022	0	7	7
2023	1	3	4

Below are the most recent publications written about "Facies" by people in Profiles.

Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication. Am J Med Genet A. 2024 Feb; 194(2):301-310.

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ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome. Hum Mol Genet. 2023 04 20; 32(9):1429-1438.

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Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland. N Engl J Med. 2023 Apr 27; 388(17):1559-1571.

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Tethered cord syndrome in KBG syndrome. Am J Med Genet A. 2023 05; 191(5):1222-1226.

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A typical variant in TCF4 exon 18 is not associated with Pitt-Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder. Am J Med Genet A. 2023 04; 191(4):1070-1076.

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Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response. Pediatr Dev Pathol. 2022 Nov-Dec; 25(6):611-623.

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An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes. Am J Med Genet A. 2022 Oct; 188(10):3084-3088.

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Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature. Am J Med Genet A. 2022 Sep; 188(9):2732-2737.

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Rescue of behavioral and electrophysiological phenotypes in a Pitt-Hopkins syndrome mouse model by genetic restoration of Tcf4 expression. Elife. 2022 05 10; 11.

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Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study. Genet Med. 2022 07; 24(7):1556-1566.

View in: PubMed

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