Mandibulofacial Dysostosis
"Mandibulofacial Dysostosis" 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.
A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)
| Descriptor ID |
D008342
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| MeSH Number(s) |
C05.116.099.370.231.576 C05.660.207.231.576 C16.131.621.207.231.576
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| Concept/Terms |
Mandibulofacial Dysostosis- Mandibulofacial Dysostosis
- Dysostoses, Mandibulofacial
- Dysostosis, Mandibulofacial
- Mandibulofacial Dysostoses
- Treacher Collins-Franceschetti Syndrome
- Mandibulofacial Dysostosis (MFD1)
- Treacher Collins Syndrome
- Collins Syndrome, Treacher
- Syndrome, Treacher Collins
- Franceschetti-Zwahlen-Klein Syndrome
|
Below are MeSH descriptors whose meaning is more general than "Mandibulofacial Dysostosis".
Below are MeSH descriptors whose meaning is more specific than "Mandibulofacial Dysostosis".
This graph shows the total number of publications written about "Mandibulofacial Dysostosis" by people in this website by year, and whether "Mandibulofacial Dysostosis" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2000 | 1 | 0 | 1 |
| 2017 | 0 | 1 | 1 |
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Below are the most recent publications written about "Mandibulofacial Dysostosis" by people in Profiles.
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A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. Am J Hum Genet. 2017 Dec 07; 101(6):995-1005.
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Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome. Mamm Genome. 2000 Nov; 11(11):1000-5.