PAM16 function has not been fully characterized.

Autosomal recessive spondylometaphyseal dysplasia, Megarbane type is associated with mutations in the PAM16 gene on chromosome 16.

Genetic testing for PAM16 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 10 always present features.

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

No clinical trials have been registered for autosomal recessive spondylometaphyseal dysplasia, Megarbane type.

12 publications have been identified in PubMed for autosomal recessive spondylometaphyseal dysplasia, Megarbane type. Research spans Basic Science / Preclinical (36%), Case Report / Case Series (27%), and Epidemiology / Natural History (27%).

Recent Publications

• Lorenz SM (2026). [PMID: 41349546](https://pubmed.ncbi.nlm.nih.gov/41349546/). *Cell*. [Basic Science / Preclinical]

• Dong L (2026). [PMID: 41263626](https://pubmed.ncbi.nlm.nih.gov/41263626/). *Clinical genetics*. [Review / Meta-Analysis]

• Woody C (2026). [PMID: 42027587](https://pubmed.ncbi.nlm.nih.gov/42027587/). *JCEM Case Rep*. [Case Report / Case Series]

• Liu H (2025). [PMID: 40325618](https://pubmed.ncbi.nlm.nih.gov/40325618/). *ACS chemical biology*. [Basic Science / Preclinical]

• Frank S (2025). [PMID: 41369754](https://pubmed.ncbi.nlm.nih.gov/41369754/). *European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society*. [Epidemiology / Natural History]

• Güneş N (2025). [PMID: 39825918](https://pubmed.ncbi.nlm.nih.gov/39825918/). *Pediatric radiology*. [Epidemiology / Natural History]

• Wang H (2025). [PMID: 41225599](https://pubmed.ncbi.nlm.nih.gov/41225599/). *Orphanet journal of rare diseases*. [Case Report / Case Series]

• Dinesh NEH (2024). [PMID: 39367925](https://pubmed.ncbi.nlm.nih.gov/39367925/). *Cellular and molecular life sciences : CMLS*. [Epidemiology / Natural History]

• Gowda VK (2024). [PMID: 38721578](https://pubmed.ncbi.nlm.nih.gov/38721578/). *Journal of pediatric genetics*. [Case Report / Case Series]

• Dinesh NEH (2024). [PMID: 39159790](https://pubmed.ncbi.nlm.nih.gov/39159790/). *Matrix biology : journal of the International Society for Matrix Biology*. [Basic Science / Preclinical]