A condition of facial development (mandibulofacial dysostosis) caused by changes in TCOF1, POLR1D, POLR1C or POLR1B, inherited dominantly or, for some genes, recessively; features vary widely, so mildly affected parents are often not recognised.
Mit változtat a diagnózis
Knowing about it supports management of hearing and breathing and informs counselling about recurrence in a family.
Más néven
Franceschetti-Klein syndrome; mandibulofacial dysostosis without limb anomalies; MFD1; TCOF; TCS
4 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- Treacher Collins syndrome 1
- Treacher Collins syndrome 2
- Treacher Collins syndrome 3
- Treacher Collins syndrome 4
