Features include always present findings: Reduced subcutaneous adipose tissue, Low-set ears, Slender long bone, and Prominent scalp veins and others; and very common findings: Hypertonia and Hypoplastic facial bones. 100 total HPO annotations.

POLR3A function has not been fully characterized.

Wiedemann-Rautenstrauch syndrome is associated with mutations in the POLR3A gene on chromosome 10.

Genetic testing for POLR3A is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 18 always present features, 2 very common features, 29 common features.

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

No clinical trials have been registered for Wiedemann-Rautenstrauch syndrome.

6 publications have been identified in PubMed for Wiedemann-Rautenstrauch syndrome. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (17%).

Recent Publications

• Xiang W (2026). [PMID: 41549341](https://pubmed.ncbi.nlm.nih.gov/41549341/). *The Journal of dermatology*. [Case Report / Case Series]

• Srour L (2025). [PMID: 40440483](https://pubmed.ncbi.nlm.nih.gov/40440483/). *Aging*. [Basic Science / Preclinical]

• Velásquez-Méndez KL (2025). [PMID: 40912518](https://pubmed.ncbi.nlm.nih.gov/40912518/). *Experimental gerontology*. [Case Report / Case Series]

• Orlova EA (2025). [PMID: 41081995](https://pubmed.ncbi.nlm.nih.gov/41081995/). *Biogerontology*. [Basic Science / Preclinical]

• Kopp J (2024). [PMID: 38592547](https://pubmed.ncbi.nlm.nih.gov/38592547/). *Human genetics*. [Gene Therapy / Novel Therapeutics]