"Langer-Giedion Syndrome" 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.
Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).
| Descriptor ID |
D015826
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| MeSH Number(s) |
C05.116.099.708.582
|
| Concept/Terms |
Langer-Giedion Syndrome- Langer-Giedion Syndrome
- Langer Giedion Syndrome
- Syndrome, Langer-Giedion
- Giedion-Langer Syndrome
- Giedion Langer Syndrome
- Syndrome, Giedion-Langer
- Trichorhinophalangeal Syndrome Type II
- Trichorhinophalangeal Syndrome Type 2
- Trichorhinophalangeal Syndrome, Type II
- Tricho-Rhino-Phalangeal Syndrome Type II
- Tricho Rhino Phalangeal Syndrome Type II
- TRPSII
- Acrodysplasia V
- Acrodysplasia Vs
- Trichorhinophalangeal Syndrome with Exostoses
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Below are MeSH descriptors whose meaning is more general than "Langer-Giedion Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Langer-Giedion Syndrome".
This graph shows the total number of publications written about "Langer-Giedion Syndrome" by people in this website by year, and whether "Langer-Giedion Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2006 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2022 | 0 | 1 | 1 |
| 2023 | 0 | 1 | 1 |
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Langer-Giedion Syndrome" by people in Profiles.
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A Comparative Evaluation of TRPS1 and GATA3 in adenoid cystic, secretory, and acinic cell carcinomas of the breast and salivary gland. Hum Pathol. 2024 Mar; 145:42-47.
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Trichorhinophalangeal syndrome type 1 (TRPS1) expression in male breast carcinoma. Hum Pathol. 2023 08; 138:62-67.
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Expression of TRPS1 in phyllodes tumor and sarcoma of the breast. Hum Pathol. 2022 03; 121:73-80.
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Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review. Am J Med Genet A. 2014 Mar; 164A(3):753-9.
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Lower eyelid entropion in Langer-Giedion syndrome. Ophthalmic Plast Reconstr Surg. 2006 Jan-Feb; 22(1):59-60.