Features include always present findings: Epicanthus, Delayed closure of the anterior fontanelle, Gingival hyperkeratosis, and Dermal translucency and others; and very common findings: Poor wound healing, Downslanted palpebral fissures, and Micrognathia. 40 total HPO annotations.

ADAMTS2 encodes ADAM metallopeptidase with thrombospondin type 1 motif 2 (1,211 aa). Cleaves the propeptides of type I and II collagen prior to fibril assembly. Does not act on type III collagen. Highest expression in Cells Cultured fibroblasts (105.8 TPM) and Adipose Subcutaneous (42.8 TPM).

Ehlers-Danlos syndrome, dermatosparaxis type is associated with mutations in the ADAMTS2 gene on chromosome 5.

ADAMTS2 is classified as a druggable target (Druggable Genome, Enzyme, Neutral Zinc Metallopeptidase, and Protease categories) with score 0.0.

132 pathogenic variants reported in ADAMTS2 in ClinVar, including hotspot variants 967430 and NP_055059.2:p.Gln225Ter (2-star review).

Genetic testing for ADAMTS2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 15 always present features, 3 very common features, 12 common features.

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

No clinical trials have been registered for Ehlers-Danlos syndrome, dermatosparaxis type.

2 publications have been identified in PubMed for Ehlers-Danlos syndrome, dermatosparaxis type. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

• Vanlerberghe R (2025). [PMID: 40837410](https://pubmed.ncbi.nlm.nih.gov/40837410/). *Genes Dis*. [Review / Meta-Analysis]

• Al Sayed A (2024). [PMID: 39650951](https://pubmed.ncbi.nlm.nih.gov/39650951/). *Cureus*. [Case Report / Case Series]