Calvarial Doughnut Lesions with Bone Fragility (CDL)

Calvarial Doughnut Lesions with Bone Fragility, also known as calvarial doughnut lesions-bone fragility syndrome, is related to cornelia de lange syndrome 1 and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Calvarial Doughnut Lesions with Bone Fragility is SGMS2 (Sphingomyelin Synthase 2), and among its related pathways/superpathways is Glycerolipids and glycerophospholipids. Affiliated tissues include bone, and related phenotypes are motor delay and platyspondyly