Treacher-Collins syndrome in Adult
Commonly caused by a mutation in the TCOF1 gene, although in rare cases due to mutations in the POLR1C or POLR1D genes. Most cases are the result of a new mutation, and about 40% are the result of autosomal dominant inheritance.
For more information on Treacher-Collins syndrome-1, see OMIM.
For more information on Treacher-Collins syndrome-2, see OMIM.
For more information on Treacher-Collins syndrome-3, see OMIM.
Q75.4 – Mandibulofacial dysostosis
82203000 – Treacher Collins syndrome