cranio–lenticulo–sutural dysplasia
MeSH: C564332ORPHA: 50814
Overview
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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with cranio–lenticulo–sutural dysplasia, sourced from HPO and Orphanet clinical annotations.
Wide mouthHigh palateThin vermilion borderLarge fontanellesHypertelorismSmooth philtrumHypoplasia of the maxillaProminent supraorbital ridgesLong philtrumProminent nasal bridgeWide noseCarious teethDelayed eruption of teethHypoplasia of teethMicrodontiaDelayed speech and language developmentNarrow chestHyperpigmentation of the skinAbnormality of skin pigmentationPes planusFrontal bossingCoarse hairBrittle hairScoliosisSkeletal dysplasiaShort statureDecreased skull ossificationCapillary hemangiomaPremature loss of teethPosterior Y-sutural cataractSparse hairPosterior wedging of vertebral bodiesHigh iliac wingJoint hypermobility
Classification & Codes
MeSH Code
C564332Orphanet Code
ORPHA:50814cranio–lenticulo–sutural dysplasia
| MeSH | C564332 |
| Orphanet | ORPHA:50814 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO