**Aase syndrome can result from gene changes that disrupt blood cell production and development, but the exact cause is not always identified.**
Aase syndrome is considered part of Diamond-Blackfan anemia, a condition involving too few red blood cells and sometimes differences in bones or joints. Many associated genes help your cells make proteins through structures called ribosomes. Gene changes can be inherited or arise for the first time, so having no family history does not rule it out. If your child has this diagnosis, a clinician or genetic counselor can explain testing and what the findings mean for your family.
The genetics behind it
Common questions
Why does Aase syndrome happen?
Aase syndrome is considered part of Diamond-Blackfan anemia. It can happen because gene changes affect ribosomes, the structures that make proteins inside your cells. These changes interfere with red blood cell production in bone marrow and can also affect physical development, including the thumbs. Some changes are inherited; others arise without a family history. The exact cause is not identified in every case. If your child has suspected Aase syndrome, a clinician needs to assess blood counts and physical findings, and a genetic counselor can explain testing and inheritance.