Features include always present findings: Osteolytic defects of the phalanges of the hand and Thickened, rough skin (hyperkeratosis); and very common findings: Glaucoma. 12 total HPO annotations.

RIGI function has not been fully characterized.

Singleton-Merten syndrome 2 is associated with mutations in the RIGI gene on chromosome 9.

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

Phenotype severity distribution: 2 always present features, 1 very common feature, 2 common features.

No clinical trials have been registered for Singleton-Merten syndrome 2.

5 publications have been identified in PubMed for Singleton-Merten syndrome 2. Research spans Case Report / Case Series (60%), Basic Science / Preclinical (20%), and Gene Therapy / Novel Therapeutics (20%).

Recent Publications

• Arshad H (2026). [PMID: 41536870](https://pubmed.ncbi.nlm.nih.gov/41536870/). *Radiology case reports*. [Case Report / Case Series]

• Hsu EE (2025). [PMID: 40913606](https://pubmed.ncbi.nlm.nih.gov/40913606/). *The Journal of allergy and clinical immunology*. [Gene Therapy / Novel Therapeutics]

• Beerepoot S (2025). [PMID: 40176112](https://pubmed.ncbi.nlm.nih.gov/40176112/). *Orphanet journal of rare diseases*. [Case Report / Case Series]

• Friedman C (2025). [PMID: 40197712](https://pubmed.ncbi.nlm.nih.gov/40197712/). *Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry*. [Case Report / Case Series]