Osteopetrosis is an inherited disorder characterised by abnormal bone growth and skeletal densification. Based on the mode of inheritance or severity of symptoms, different types of osteopetrosis have been described. Autosomal recessive osteopetrosis (ARO) is an early-onset type of the disease with distinguishing features such as macrocephaly, short stature, facial nerve palsy, loss of vision, intellectual disability, hepatomegaly, anemia and other skeletal abnormalities.
Mutations in 8 different genes have been identified to be associated with autosomal recessive osteopetrosis. Autosomal recessive osteopetrosis-8 is caused by mutations in Sorting Nexin 10 (SNX10) gene.