There is no definitive cure available for this condition at present. Patients may benefit from multidisciplinary care including a team of orthopedicians to correct joint deformities, developmental pediatricians, pediatric neurologists and medical geneticists.
Surveillance can include regular monitoring of growth and development, monitoring for joint mobility and deformities.
Genetic counseling
This condition is inherited in an autosomal recessive manner. The heterozygous carriers of this condition do not manifest any clinical features. The chance of an offspring of two carrier parents to develop this condition would be 25% in every pregnancy. Prenatal diagnosis can be offered to families where a disease-causing variant in NEPRO has been identified, by chorion villus sampling at 11-12 weeks gestation and targeted testing of fetal DNA.
NEPRO