acroosteolysis dominant type

Acroosteolysis dominant type is a rare genetic condition that affects the bones. This condition is known for the loss of bone tissue in the fingertips (acroosteolysis) and generalized low bone density (osteoporosis). People with this condition may also exhibit other skeletal anomalies and unique facial features. The disorder also involves various skeletal irregularities, and in some cases, other systems of the body may be affected. These additional differences can include dental issues, abnormal bone growth in other areas, and changes in the skull and facial structure.

Common features include the breakdown of bone at the ends of the fingers and overall low bone density. Additional signs that may be seen include irregularities in bone formation, changes in facial structure, and dental anomalies. Some people might also experience hearing loss, the presence of kidney cysts, or heart and blood vessel abnormalities, though these can vary from person to person.

This condition is caused by protein-truncating variants in exon 34 of the NOTCH2 gene. These changes affect a specific part of the protein called the PEST domain and are thought to work by a gain-of-function mechanism. The genetic changes alter how cells build and maintain bone, leading to the symptoms observed.

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.