Features include very common findings: Epicanthus, Hypertelorism, Short digit, and Wide intermamillary distance; and common findings: Dextrocardia, Low muscle tone (hypotonia), Patent ductus arteriosus, and Posteriorly rotated ears and others. 73 total HPO annotations.

MEGF8 encodes multiple EGF like domains 8 (2,845 aa). Acts as a negative regulator of hedgehog signaling Highest expression in Brain Cerebellum (51.8 TPM) and Brain Cerebellar Hemisphere (46.8 TPM).

MEGF8-related Carpenter syndrome has been associated with mutations in the MEGF8 gene on chromosome 19.

MEGF8 is classified as a druggable target with score 0.0.

Genetic testing for MEGF8 is available. Testing is considered supportive for diagnosis.

Phenotype severity distribution: 4 very common features, 21 common features.

No clinical trials have been registered for MEGF8-related Carpenter syndrome.

4 publications have been identified in PubMed for MEGF8-related Carpenter syndrome. Kisho has analyzed 3 by research type. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

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

• Zhang Q (2024). [PMID: 39126056](https://pubmed.ncbi.nlm.nih.gov/39126056/). *Int J Mol Sci*. [Review / Meta-Analysis]

• Watts LM (2024). [PMID: 38760421](https://pubmed.ncbi.nlm.nih.gov/38760421/). *Eur J Hum Genet*. [Case Report / Case Series]