Management
Treatment is symptomatic, multidisciplinary and ideally coordinated by a clinical geneticist or a pediatrician with experience in skeletal dysplasias.
Special attention should be given to:
• Skeletal findings, early recognition and management of fractures, especially the ones that could affect growth. Patients often require multiple orthopedic surgeries.
• Early detection of dysautonomia.
Genetic counselling
Risk to sibs: When each of the parents has one mutation on the LIFR gene, the risk of having another affected baby is 25%. Prenatal testing and preimplantation genetic diagnosis are feasible.
LIFR