MOLECULAR MEDICINE, ORTHOPAEDICS
A rare skeletal syndrome (OMIM:166260) characterised by bone fragility–fractures with trivial trauma which heal normally, sclerosis of tubular bones, and cemento-osseous lesions that may replace the tooth sockets which, in advanced cases, cause facial deformity due to lesional overgrowth. Patients suffer maxillary infections with osteomyelitis-like symptoms, including swelling and purulent discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity
Molecular pathology Defects in ANO5, which encodes anoctamin 5, a putative calcium-activated chloride channel, cause gnathodiaphyseal dysplasia.
Synonyms Gnathodiaphyseal sclerosis, osteogenesis imperfecta with unusual skeletal lesions