Osteopetrosis [26 genes]

Osteopetrosis is a group of rare hereditary disorders characterized by an abnormal increase in bone density due to malfunctioning osteoclasts. This disease can range from severe neonatal forms to milder forms incidentally detected on X-ray imaging.

Depending on severity and age of onset, its features may include fractures, macrocephaly, facial deformities, short stature, compressive neuropathies (pressure on nerves), hypocalcemia with attendant tetanic seizures, and pancytopenia. Neurological decline or involvement of other systems may rarely occur.

The estimated prevalence is 1:250,000 births.

Genetic testing by means of an osteopetrosis panel allows confirming the molecular diagnosis, distinguishing between mild and severe variants, identifying the risk of hematological or neurological complications, guiding therapeutic decision-making, and assess genetic risk in relatives.

Service indicated upon suspicion of the disease.