Term Name:	craniolenticulosutural dysplasia
Synonyms:	Boyadjiev-Jabs Syndrome, cranio-lenticulo-sutural dysplasia, CLSD
Definition:	A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects.
Ontology:	Human Disease [DOID:0070307]   ( DOID:0070307 )