PhenomeGene — Human Disease Gene Website SeriesKDELR2

Management

Main guidelines for disease management are surgical correction of bone deformations and treatment with bisphosphonates. The multisystemic nature of the disease warrants the involvement of a multidisciplinary team of specialists for adequate management and surveillance. Recommended clinical specialisms are endocrinology, orthopedic surgery, physiotherapy, dentistry, ophthalmology, cardiology, pulmonology, psychology, clinical genetics.