Treacher Collins syndrome 2

Treacher Collins syndrome 2 is a form of Treacher Collins syndrome caused by a change in the POLR1D gene. This condition is part of a group of disorders that affect the development of the facial bones and tissues. The syndrome is defined by its genetic cause, with the mutation in the POLR1D gene being responsible for the features observed in people with this condition. Although many details about the condition depend on individual circumstances, the description emphasizes that the root of the syndrome is genetic. People with this condition usually have varied presentations, and the specific features or severity can differ from person to person.

Information about symptoms is currently limited for this condition.

Treacher Collins syndrome 2 occurs because of a mutation in the POLR1D gene. This genetic change leads to a disturbance in the normal development of facial structures. The mutation in this gene is the primary known cause of the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.