Metaphyseal Dysplasia

Metaphyseal Dysplasia, also known as bakwin-krida syndrome, is related to intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies and shwachman-diamond syndrome 1. An important gene associated with Metaphyseal Dysplasia is AIRE (Autoimmune Regulator), and among its related pathways/superpathways are Endochondral ossification with skeletal dysplasias and Role of hypoxia, angiogenesis, and FGF pathway in OA chondrocyte hypertrophy. Affiliated tissues include bone and neutrophil, and related phenotypes are growth/size/body region and homeostasis/metabolism