Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

Diamond-Blackfan anemia 15 with mandibulofacial dysostosis is a rare inherited form of Diamond-Blackfan anemia. It is defined by a mutation in the RPS28 gene. This condition falls under a group of disorders that affect the body’s ability to produce red blood cells. The name of the condition also highlights mandibulofacial dysostosis, which means that changes in the development of the jaw and facial bones can occur. This summary is based on available information that links the condition to alterations in red blood cell production caused by a genetic change, but detailed descriptions of the range of symptoms or severity in different people are currently limited.

Information about symptoms is currently limited for this condition.

This condition is caused by a mutation in the RPS28 gene. Changes in this gene affect the normal production of red blood cells, which is a characteristic feature of Diamond-Blackfan anemia. The mutation distinguishes this type from other forms of the disorder.

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.