Features include: Prominent antihelix, Small nail, Short palm, and Brachydactyly and 8 more.

EVC

EVC encodes EvC ciliary complex subunit 1 (992 aa). Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development Highest expression in Cells Cultured fibroblasts (40.5 TPM) and Ovary (35.4 TPM).

Acrofacial dysostosis, Weyers type is associated with mutations in the EVC gene on chromosome 4.

The EVC protein participates in GLI:SUFU translocates to the ciliary tip in response to Hh signaling pathway.

EVC is classified as a druggable target with score 13.1.

EVC2

EVC2 encodes EvC ciliary complex subunit 2 (1,308 aa). Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. Highest expression in Ovary (15.1 TPM) and Cervix Ectocervix (12.5 TPM).

Acrofacial dysostosis, Weyers type is associated with mutations in the EVC2 gene on chromosome 4.

Genetic testing for EVC, EVC2 is available. Testing is considered confirmatory for diagnosis.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for acrofacial dysostosis, Weyers type.

3 publications have been identified in PubMed for acrofacial dysostosis, Weyers type. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

• Chen A (2026). [PMID: 41664038](https://pubmed.ncbi.nlm.nih.gov/41664038/). *BMC Med Genomics*. [Basic Science / Preclinical]

• Liang C (2026). [PMID: 41810204](https://pubmed.ncbi.nlm.nih.gov/41810204/). *Transl Pediatr*. [Case Report / Case Series]

• Altunoglu U (2024). [PMID: 38531627](https://pubmed.ncbi.nlm.nih.gov/38531627/). *J Med Genet*. [Epidemiology / Natural History]