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craniolenticulosutural dysplasia

Disease Summary
Associated Targets (4)
Tbio

4


Mondo Description Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.
Uniprot Description Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects.
Disease Ontology Description An autosomal recessive disorder 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.
Mondo Term and Equivalent IDs
MONDO:0011911:  craniolenticulosutural dysplasia
MESH:C564332: 
Orphanet:50814: 
SCTID:725100001: 
UMLS:C1843042: