MeSH Browser

MeSH Supplementary: Orofaciodigital syndrome type1
Unique ID: C537134
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537134
Entry Term(s): Oral-facial-digital syndrome, type 1; Papillon-League-Psaume syndrome
Registry Number: 0
Heading Mapped to: *Orofaciodigital Syndromes
Frequency: 15
Note: A hereditary, X-linked dominant, orofaciodigital syndrome characterized by oral, facial, and digital malformations. Affected individuals may also have POLYCYSTIC KIDNEY DISEASE; cardiac, and liver abnormalities, as well as neurologic involvement and intellectual disability. It is caused by mutations in the OFD1 gene. OMIM: 311200
Date of Entry: 2010/08/25
Revision Date: 2016/09/29

Orofaciodigital syndrome type1 MeSH Supplementary Concept Data 2024