[1] This decrease in collagen secretion can lead to the bone defects that are also characteristic of the disease, such as skeletal dysplasia and under-ossification.

CLSD is caused by a missense mutation in the 14q13-q21 region of Chromosome 14, where the amino acid phenylalanine is mistranslated and replaced with leucine.

This triggers uncoating of the vesicle (a membrane bound carrying compartment for molecules) containing a secretory protein destined for packaging in the Golgi apparatus of the cell.

A mutation in the SEC23A gene prevents the vesicle from uncoating so it will not bind to the receptor site on the endoplasmic reticulum to be released into the cytoplasm for transport to the Golgi apparatus.

[citation needed] Treatment for CLSD is largely focused on treating the symptoms of the disorder, because it is still in the early stages of research.

Treatment may include surgeries to correct facial and cranial dysmorphisms or therapy sessions to help alleviate behavioral abnormalities associated with the disorder.

[4] Mutant proteins still maintain some residual activity, allowing for the release of some collagen, but still form an extremely distended endoplasmic reticulum.

[citation needed] Cranio-lenticulo-sutural dysplasia was first discovered by Simeon Boyadjiev Boyd, chief of the Section of Genetics at UC Davis Children's Hospital, in 2003.