"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
|
| 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 |
|---|
| 2004 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2010 | 1 | 0 | 1 |
| 2012 | 3 | 0 | 3 |
| 2013 | 3 | 0 | 3 |
| 2014 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Mandibulofacial Dysostosis" by people in Profiles.
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POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genet Med. 2020 03; 22(3):547-556.
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Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. Am J Hum Genet. 2015 May 07; 96(5):765-74.
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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. Genet Med. 2014 Sep; 16(9):720-4.
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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. Orphanet J Rare Dis. 2013 Jul 24; 8:110.
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Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Hum Genet. 2013 Aug; 132(8):885-98.
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Human facial dysostoses. Clin Genet. 2013 Jun; 83(6):499-510.
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Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature. Eur J Pediatr. 2012 Nov; 171(11):1611-8.
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Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. Hum Mol Genet. 2012 Sep 15; 21(18):3969-83.
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Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet. 2012 Feb 10; 90(2):369-77.
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 2011 Jan; 43(1):20-2.
MeSH information
