craniolenticulosutural dysplasia
Findings
No curated finding names craniolenticulosutural dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0011911), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
41 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Brittle hairHPOHP:0002299
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Coarse hairHPOHP:0002208
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Delayed closure of the anterior fontanelleHPOHP:0001476
- 4 of 4 reported patients
- Delayed eruption of teethHPOHP:0000684
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- High iliac wingHPOHP:0008808
Show the remaining 29
- Posterior Y-sutural cataractHPOHP:0008031
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Prominent nasal bridgeHPOHP:0000426
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Prominent supraorbital ridgesHPOHP:0000336
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Smooth philtrumHPOHP:0000319
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SEC23AHGNC:10701
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
- Limited · G2P · Autosomal recessive · 2023
Where it sits
Other names
1 name
Resolves to: craniolenticulosutural dysplasia
- Also called
- Boyadjiev-Jabs syndrome