Features include always present findings: Short stature, Mild bone density loss (osteopenia), Recurrent fractures, and Abnormally high-pitched voice and others; and very common findings: Coronal craniosynostosis, Low muscle tone (hypotonia), Hydrocephalus, and Macrocephaly and others. 31 total HPO annotations.

SEC24D function has not been fully characterized.

Cole-Carpenter syndrome 2 is associated with mutations in the SEC24D gene on chromosome 4.

Genetic testing for SEC24D is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 10 always present features, 5 very common features, 2 common features.

No clinical trials have been registered for Cole-Carpenter syndrome 2.

6 publications have been identified in PubMed for Cole-Carpenter syndrome 2. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (17%).

Recent Publications

• Süncak S (2026). [PMID: 41188448](https://pubmed.ncbi.nlm.nih.gov/41188448/). *J Hum Genet*. [Case Report / Case Series]

• Essawi O (2026). [PMID: 41495099](https://pubmed.ncbi.nlm.nih.gov/41495099/). *Sci Rep*. [Gene Therapy / Novel Therapeutics]

• Zhang J (2025). [PMID: 40374976](https://pubmed.ncbi.nlm.nih.gov/40374976/). *Commun Biol*. [Basic Science / Preclinical]

• Patiño-Salazar JD (2025). [PMID: 39915337](https://pubmed.ncbi.nlm.nih.gov/39915337/). *Osteoporos Int*. [Epidemiology / Natural History]

• Burrill N (2025). [PMID: 39780448](https://pubmed.ncbi.nlm.nih.gov/39780448/). *Am J Med Genet A*. [Case Report / Case Series]