Features include always present findings: Pulmonary hypoplasia, Thoracic hypoplasia, Disproportionate short-limb short stature, and Anisospondyly and others; and common findings: Severe short stature, Micromelia, Single umbilical artery, and Narrow mouth and others. 24 total HPO annotations.

HSPG2 encodes heparan sulfate proteoglycan 2 (4,391 aa). Integral component of basement membranes. Highest expression in Artery Tibial (280.8 TPM) and Artery Aorta (227.2 TPM).

Silverman-Handmaker type dyssegmental dysplasia is caused by mutations in the HSPG2 gene on chromosome 1.

HSPG2 is classified as a druggable target (Druggable Genome and Kinase categories) with score 2.2.

Genetic testing for HSPG2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 always present features, 16 common features.

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

No clinical trials have been registered for Silverman-Handmaker type dyssegmental dysplasia.

3 publications have been identified in PubMed for Silverman-Handmaker type dyssegmental dysplasia. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

• Akcan MB (2025). [PMID: 40503612](https://pubmed.ncbi.nlm.nih.gov/40503612/). *Am J Med Genet A*. [Case Report / Case Series]

• Sohail AA (2025). [PMID: 40118124](https://pubmed.ncbi.nlm.nih.gov/40118124/). *Matrix Biol*. [Review / Meta-Analysis]

• Farshadyeganeh P (2024). [PMID: 38424183](https://pubmed.ncbi.nlm.nih.gov/38424183/). *J Hum Genet*. [Case Report / Case Series]