Catalog

Autosomal dominant osteopetrosis type 1

No MMS code

Link to WHO Definition

Autosomal dominant osteopetrosis type 1 – http://id.who.int/icd/entity/1802011368

Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterised by skeletal densification that predominantly involves the cranial vault. Clinical signs include chronic bone pain and disorders of the cranial nerves (trigeminal neuralgia, facial palsy, hearing loss).