Acromesomelic Dysplasia 1 (AMD1)

Acromesomelic Dysplasia 1, also known as acromesomelic dysplasia, maroteaux type, is related to acromesomelic dysplasia 2c and acromesomelic dysplasia 2a. An important gene associated with Acromesomelic Dysplasia 1 is NPR2 (Natriuretic Peptide Receptor 2), and among its related pathways/superpathways are Phospholipase-C Pathway and Endochondral ossification with skeletal dysplasias. Affiliated tissues include bone and skin, and related phenotypes are frontal bossing and scoliosis