Features include always present findings: Ambiguous genitalia; and common findings: Cutaneous syndactyly, Cryptophthalmos, Oligohydramnios, and Bilateral renal agenesis and others. 26 total HPO annotations.

FREM2 encodes FRAS1 related extracellular matrix 2 (3,169 aa). Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia. Required for epidermal adhesion. Highest expression in Thyroid (6.6 TPM) and Nerve Tibial (4.1 TPM).

Fraser syndrome 2 is associated with mutations in the FREM2 gene on chromosome 13.

FREM2 is classified as a druggable target with score 0.0.

Genetic testing for FREM2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature, 5 common features.

No clinical trials have been registered for Fraser syndrome 2.

2 publications have been identified in PubMed for Fraser syndrome 2. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

• Simikyan RG (2025). [PMID: 41006360](https://pubmed.ncbi.nlm.nih.gov/41006360/). *Scientific reports*. [Basic Science / Preclinical]

• Wei W (2025). [PMID: 41426592](https://pubmed.ncbi.nlm.nih.gov/41426592/). *Frontiers in medicine*. [Case Report / Case Series]