craniolenticulosutural dysplasia

Term ID

DOID:0070307

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. (3)

References

• MESH:C564332
• OMIM:607812
• ORDO:50814
• SNOMEDCT_US_2023_03_01:725100001
• UMLS_CUI:C1843042

Ontology

Human Disease   ( DOID:0070307 )