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 if they could affect growth. They often require multiple orthopedic surgeries.
• Early detection of dysautonomia
Genetic counselling
Risk to sibs: When both parents are heterozygous for an LIFR pathogenic variant, the risk to sibs of inheriting two LIFR pathogenic variants is 25%. Prenatal testing and preimplantation genetic diagnosis are feasible.