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Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for trisomy 12p.
7 publications have been identified in PubMed for trisomy 12p. Research spans Review / Meta-Analysis (29%), Case Report / Case Series (29%), and Basic Science / Preclinical (29%).
Sun X (2026). [PMID: 41630262](https://pubmed.ncbi.nlm.nih.gov/41630262/). *Medicine (Baltimore)*. [Case Report / Case Series]
Narozna M (2025). [PMID: 40801878](https://pubmed.ncbi.nlm.nih.gov/40801878/). *J Cell Biol*. [Basic Science / Preclinical]
Xia C (2025). [PMID: 40075865](https://pubmed.ncbi.nlm.nih.gov/40075865/). *Diagnostics (Basel)*. [Case Report / Case Series]
Narozna M (2025). [PMID: 39677655](https://pubmed.ncbi.nlm.nih.gov/39677655/). *bioRxiv*. [Basic Science / Preclinical]
van Weelderen RE (2024). [PMID: 38621200](https://pubmed.ncbi.nlm.nih.gov/38621200/). *Blood Adv*. [Clinical Trial Publication]
Paprocka J (2024). [PMID: 38837855](https://pubmed.ncbi.nlm.nih.gov/38837855/). *Epilepsia Open*. [Review / Meta-Analysis]
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 10:41 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Ming S (2024). [PMID: 39612314](https://pubmed.ncbi.nlm.nih.gov/39612314/). *J Int Med Res*. [Review / Meta-Analysis]