sclerosteosis 2
MONDO:0013679Mondo
Findings
No curated finding names sclerosteosis 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.
Definition from the Mondo Disease Ontology (MONDO:0013679), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 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.
- Cutaneous finger syndactylyHPOHP:0010554
- 2 of 2 reported patients
- Facial palsyHPOHP:0010628
- 2 of 2 reported patients
- Thickened calvariaHPOHP:0002684
- 2 of 2 reported patients
- Cranial nerve compressionHPOHP:0001293
- 1 of 2 reported patients
- Facial asymmetryHPOHP:0000324
- 1 of 2 reported patients
- Gait disturbanceHPOHP:0001288
- 1 of 2 reported patients
- Hearing impairmentHPOHP:0000365
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.
- LRP4HGNC:6696
- Limited · Ambry Genetics · Semidominant · 2018
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: sclerosteosis 2
- Also called
- LRP4 sclerosteosissclerosteosis caused by mutation in LRP4sclerosteosis type 2SOST2