Features include very common findings: Metacarpal synostosis, Syndactyly, Anonychia, and Absent fingernail and others; and common findings: Prominent forehead, Hypertelorism, Radioulnar synostosis, and Downslanted palpebral fissures and others. 56 total HPO annotations.

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).

Cenani-Lenz syndactyly syndrome is caused by mutations in the LRP4 gene on chromosome 11.

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

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

Biomarker and diagnostic research for Cenani-Lenz syndactyly syndrome has been reported in the published literature.

Phenotype severity distribution: 10 very common features, 11 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for Cenani-Lenz syndactyly syndrome.

2 publications have been identified in PubMed for Cenani-Lenz syndactyly syndrome. Research spans Diagnostic / Biomarker (50%) and Case Report / Case Series (50%).

Recent Publications

• Köseoğlu GM (2026). [PMID: 42153583](https://pubmed.ncbi.nlm.nih.gov/42153583/). *Am J Med Genet A*. [Diagnostic / Biomarker]

• Alsaleh AS (2025). [PMID: 40091967](https://pubmed.ncbi.nlm.nih.gov/40091967/). *Cureus*. [Case Report / Case Series]