Features include always present findings: Sideways curvature of the spine (scoliosis), Anteverted nares, Short stature, and Midface retrusion and others; and common findings: Limited elbow extension, Dislocated radial head, Excessive inward curve of the lower back (lumbar hyperlordosis), and Coxa vara and others. 18 total HPO annotations.

COL27A1 encodes collagen type XXVII alpha 1 chain (1,860 aa). Plays a role during the calcification of cartilage and the transition of cartilage to bone Highest expression in Cervix Ectocervix (145.1 TPM) and Cervix Endocervix (133.8 TPM).

Steel syndrome is associated with mutations in the COL27A1 gene on chromosome 9.

COL27A1 is classified as a druggable target (Druggable Genome category) with score 0.9.

Genetic testing for COL27A1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 7 always present features, 5 common features.

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

No clinical trials have been registered for Steel syndrome.

1 publication has been identified in PubMed for Steel syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

• Gorodilova D (2026). [PMID: 41788698](https://pubmed.ncbi.nlm.nih.gov/41788698/). *Front Med (Lausanne)*. [Case Report / Case Series]