label: Blomstrand Type Chondrodysplasia
label_lc: blomstrand type chondrodysplasia
description: "An autosomal recessive lethal condition caused by inactivating mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation."