Blomstrand Type Chondrodysplasia

**Semantic type:** Disease or Syndrome

**Definition:** 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.