Treacher-Collins-syndroom (aandoening)
mandibulofaciale dysostose
mandibulofaciale dysostosis
syndroom van Treacher-Collins
syndroom van Treacher-Collins
Aangeboren aandoening met ernstige afwijkingen in het gezicht en soms gehoorstoornissen.
Treacher Collins syndrome
Franceschetti Klein syndrome
Mandibulofacial dysostosis
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner.
Associated morphologydysplasie
Finding sitebotstructuur van cranium
Pathological processproces van pathologische ontwikkeling
PALGA thesaurus simple reference set for pathology
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermMandibulofaciale dysostose
SNOMED CT to Orphanet simple map861
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q75.4
CorrelationSNOMED CT source code to target map code correlation not specified