Acromesomelic chondrodysplasia hunter-thompson type

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.

Disease Alternative Name

blomstrand type chondrodysplasia
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