Features include always present findings: Aplasia/Hypoplasia of the corpus callosum; and very common findings: Preaxial hand polydactyly, Generalized hypotonia, Hypertelorism, and Duplication of thumb phalanx and others. 89 total HPO annotations.

KIF7 encodes kinesin family member 7 (1,343 aa). Essential for hedgehog signaling regulation: acts both as a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms. Highest expression in Cervix Ectocervix (23.0 TPM) and Artery Aorta (21.6 TPM).

Acrocallosal syndrome is associated with mutations in the KIF7 gene on chromosome 15.

The KIF7 protein participates in GLI:SUFU translocates to the ciliary tip in response to Hh signaling pathway.

KIF7 is classified as a druggable target (Transcription Factor category) with score 0.0.

Genetic testing for KIF7 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature, 14 very common features, 21 common features.

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

No clinical trials have been registered for acrocallosal syndrome.

4 publications have been identified in PubMed for acrocallosal syndrome. Research spans Case Report / Case Series (75%) and Review / Meta-Analysis (25%).

Recent Publications

• Belengeanu V (2025). [PMID: 39857086](https://pubmed.ncbi.nlm.nih.gov/39857086/). *Diagnostics (Basel)*. [Case Report / Case Series]

• Illi C (2025). [PMID: 40370525](https://pubmed.ncbi.nlm.nih.gov/40370525/). *Case Rep Perinat Med*. [Case Report / Case Series]

• Bouchenafa R (2024). [PMID: 38646780](https://pubmed.ncbi.nlm.nih.gov/38646780/). *Am J Physiol Cell Physiol*. [Review / Meta-Analysis]

• Ruiz-Matos SJ (2024). [PMID: 39036105](https://pubmed.ncbi.nlm.nih.gov/39036105/). *Cureus*. [Case Report / Case Series]