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sclerosteosis 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sclerosteosis 2

MONDO:0013679

Also known as:LRP4 sclerosteosisSOST2sclerosteosis caused by mutation in LRP4

Overview

Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.

GeneticsAutosomal recessive, Autosomal dominant · LRP4 (chr 11)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Facial palsy, Thickened calvaria, and Cutaneous finger syndactyly; and common findings: Hearing loss (hearing impairment), Vertigo, Spastic ataxia, and Difficulty walking (gait disturbance) and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	4	Facial palsy, Macrocephaly, Mandibular prognathia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LRP4 encodes LDL receptor related protein 4 (1,905 aa). Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Highest expression in Skin Sun Exposed Lower leg (55.9 TPM) and Skin Not Sun Exposed Suprapubic (55.2 TPM).

Sclerosteosis 2 is associated with mutations in the LRP4 gene on chromosome 11.

LRP4 is classified as a druggable target (Cell Surface and Kinase categories) with score 0.0.

Diagnosis

Genetic testing for LRP4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 7 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for sclerosteosis 2.

3 publications have been identified in PubMed for sclerosteosis 2. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Sridhar S (2026). [PMID: 40824295](https://pubmed.ncbi.nlm.nih.gov/40824295/). *QJM*. [Case Report / Case Series]
Chen Y (2025). [PMID: 41408627](https://pubmed.ncbi.nlm.nih.gov/41408627/). *BMC Oral Health*. [Case Report / Case Series]
Katchkovsky S (2025). [PMID: 39443289](https://pubmed.ncbi.nlm.nih.gov/39443289/). *FEBS Lett*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:59 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614305

GARD

Genetic and Rare Diseases Info Center

GARD:15786

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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sclerosteosis 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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