| Metadata | |
|---|---|
| ID | DOID:0070307 |
| Name | craniolenticulosutural dysplasia |
| 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. https://en.wikipedia.org/wiki/Cranio%E2%80%93lenticulo%E2%80%93sutural_dysplasia, https://www.ncbi.nlm.nih.gov/pubmed/?term=16980979, https://www.ncbi.nlm.nih.gov/pubmed/?term=29161034 |
| Xrefs |
SNOMEDCT_US_2023_03_01:725100001 |
| Subsets |
DO_rare_slim |
| Synonyms |
Boyadjiev-Jabs Syndrome [EXACT] cranio-lenticulo-sutural dysplasia, CLSD [EXACT] |
| Parent Relationships |
is_a syndrome |