acrofacial dysostosis Cincinnati type

Acrofacial dysostosis Cincinnati type is a genetic condition that is defined by a mutation in the POLR1A gene. This means that a change in this gene leads to the development of the disorder, which is part of a group of conditions known as acrofacial dysostoses. The condition is recognized by the specific mutation in POLR1A, and it is also known by several synonyms, including POLR1A acrofacial dysostosis and AFDCIN. This summary provides an introduction based on key genetic information from trusted sources.

Information about symptoms is currently limited for this condition.

The cause of acrofacial dysostosis Cincinnati type is a mutation in the POLR1A gene. This genetic change affects the normal function of the gene, which plays a role in cellular processes. As a result, this mutation leads to the development of the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.