Features include always present findings: Disproportionate short-limb short stature, Short phalanx of finger, and Short toe; and common findings: Prominent forehead, Ovoid vertebral bodies, Joint hypermobility, and Acromesomelia and others. 41 total HPO annotations.

NPR2 encodes natriuretic peptide receptor 2 (1,047 aa). Receptor for the C-type natriuretic peptide NPPC/CNP hormone. Has guanylate cyclase activity upon binding of its ligand. May play a role in the regulation of skeletal growth Highest expression in Cervix Ectocervix (78.3 TPM) and Artery Aorta (67.0 TPM).

Acromesomelic dysplasia 1, Maroteaux type is associated with mutations in the NPR2 gene on chromosome 9.

NPR2 is classified as a druggable target (Druggable Genome and Kinase categories) with score 5.8.

Genetic testing for NPR2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 18 common features.

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

No clinical trials have been registered for acromesomelic dysplasia 1, Maroteaux type.

3 publications have been identified in PubMed for acromesomelic dysplasia 1, Maroteaux type. Research spans Case Report / Case Series (100%).

Recent Publications

• Chang J (2025). [PMID: 41109857](https://pubmed.ncbi.nlm.nih.gov/41109857/). *Journal of clinical orthodontics : JCO*. [Case Report / Case Series]

• Dong Y (2025). [PMID: 40551241](https://pubmed.ncbi.nlm.nih.gov/40551241/). *Italian journal of pediatrics*. [Case Report / Case Series]

• Abdelrazek IM (2024). [PMID: 39441036](https://pubmed.ncbi.nlm.nih.gov/39441036/). *Molecular genetics &amp; genomic medicine*. [Case Report / Case Series]