 Orofaciodigital Syndromes
"Orofaciodigital Syndromes" 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.
Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
| Descriptor ID |
D009958
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| MeSH Number(s) |
C05.116.099.370.652 C05.660.207.700 C16.131.077.676 C16.131.260.830.670 C16.131.621.207.700 C16.320.180.830.670 C16.320.714
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| Concept/Terms |
Orofaciodigital Syndromes- Orofaciodigital Syndromes
- Syndrome, Orofaciodigital
- Syndromes, Orofaciodigital
- Dysplasia Linguofacialis
- Orofaciodigital Syndrome
- Orodigitofacial Dysostosis
- Orodigitofacial Syndrome
- Oral-Facial-Digital Syndrome
- Oro-Facio-Digital Syndrome
Papillon-Leage and Psaume Syndrome- Papillon-Leage and Psaume Syndrome
- Papillon Leage and Psaume Syndrome
- Oral-Facial-Digital Syndrome, Type I
- Oral Facial Digital Syndrome, Type I
- Orofaciodigital Syndrome I
- Orofaciodigital Syndrome Is
- Gorlin-Psaume Syndrome
- Gorlin Psaume Syndrome
- Syndrome, Gorlin-Psaume
Mohr Syndrome- Mohr Syndrome
- Syndrome, Mohr
- Orofaciodigital Syndrome II
- Orofaciodigital Syndrome IIs
- Oral-Facial-Digital Syndrome, Type II
- Oral Facial Digital Syndrome, Type II
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Below are MeSH descriptors whose meaning is more general than "Orofaciodigital Syndromes".
Below are MeSH descriptors whose meaning is more specific than "Orofaciodigital Syndromes".
This graph shows the total number of publications written about "Orofaciodigital Syndromes" by people in this website by year, and whether "Orofaciodigital Syndromes" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2018 | 1 | 0 | 1 |
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Below are the most recent publications written about "Orofaciodigital Syndromes" by people in Profiles.
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Boczek NJ, Hopp K, Benoit L, Kraft D, Cousin MA, Blackburn PR, Madsen CD, Oliver GR, Nair AA, Na J, Bianchi DW, Beek G, Harris PC, Pichurin P, Klee EW. Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants. Eur J Hum Genet. 2018 12; 26(12):1797-1809.
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