osteosclerosis-developmental delay-craniosynostosis syndrome
MONDO:0015800Mondo
Findings
No curated finding names osteosclerosis-developmental delay-craniosynostosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
Definition from the Mondo Disease Ontology (MONDO:0015800), read 2026-09-29. CC BY 4.0.
Features
16 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.
- BrachycephalyHPOHP:0000248
- Very frequent (80% to 99% of cases)
- Broad foreheadHPOHP:0000337
- Very frequent (80% to 99% of cases)
- Broad jawHPOHP:0012802
- Very frequent (80% to 99% of cases)
- High foreheadHPOHP:0000348
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Increased bone mineral densityHPOHP:0011001
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- Thickened calvariaHPOHP:0002684
- Very frequent (80% to 99% of cases)
- CraniosynostosisHPOHP:0001363
- Frequent (30% to 79% of cases)
- Facial palsyHPOHP:0010628
- Occasional (5% to 29% of cases)
- HeadacheHPOHP:0002315
- Occasional (5% to 29% of cases)
- Hearing impairmentHPOHP:0000365
- Occasional (5% to 29% of cases)
Show the remaining 4
- Increased intracranial pressureHPOHP:0002516
- Occasional (5% to 29% of cases)
- Mild global developmental delayHPOHP:0011342
- Occasional (5% to 29% of cases)
- Optic atrophyHPOHP:0000648
- Occasional (5% to 29% of cases)
- Visual impairmentHPOHP:0000505
- Occasional (5% to 29% 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.
- LRP5HGNC:6697
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of