"Blepharophimosis" 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.
The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)
| Descriptor ID |
D016569
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| MeSH Number(s) |
C11.250.090 C11.338.190 C16.131.384.190
|
| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Blepharophimosis".
Below are MeSH descriptors whose meaning is more specific than "Blepharophimosis".
This graph shows the total number of publications written about "Blepharophimosis" by people in this website by year, and whether "Blepharophimosis" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 0 | 1 | 1 |
| 1999 | 0 | 1 | 1 |
| 2001 | 1 | 0 | 1 |
| 2010 | 1 | 0 | 1 |
| 2012 | 1 | 1 | 2 |
| 2013 | 2 | 0 | 2 |
| 2018 | 1 | 0 | 1 |
| 2020 | 2 | 0 | 2 |
| 2021 | 1 | 1 | 2 |
| 2024 | 1 | 1 | 2 |
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Below are the most recent publications written about "Blepharophimosis" by people in Profiles.
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MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability. Am J Med Genet A. 2025 Jan; 197(1):e63868.
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Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. Am J Med Genet C Semin Med Genet. 2024 Dec; 196(4):e32089.
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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 10; 9(10):e1809.
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Response to Biesecker et?al. Am J Hum Genet. 2021 09 02; 108(9):1807-1808.
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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. Genet Med. 2020 11; 22(11):1838-1850.
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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med. 2020 08; 22(8):1338-1347.
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Ultrasound biomicroscopy image patterns in normal upper eyelid and congenital ptosis in the Indian population. Indian J Ophthalmol. 2018 Mar; 66(3):383-388.
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Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. Invest Ophthalmol Vis Sci. 2013 Apr 26; 54(4):2985-91.
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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. PLoS Genet. 2013; 9(3):e1003358.
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The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012 Nov; 33(11):1520-5.