Features include always present findings: Epicanthus, Dysplastic tricuspid valve, Short stature, and Low muscle tone (hypotonia) and others; and very common findings: Gastroesophageal reflux, Hypertelorism, Carpal synostosis, and Posteriorly rotated ears and others. 61 total HPO annotations.

MAP3K7 encodes mitogen-activated protein kinase kinase kinase 7 (606 aa). Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Highest expression in Cells Cultured fibroblasts (29.6 TPM) and Ovary (26.7 TPM).

Cardiospondylocarpofacial syndrome is associated with mutations in the MAP3K7 gene on chromosome 6.

MAP3K7 is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, and Transcription Factor categories) with score 0.0.

Genetic testing for MAP3K7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cardiospondylocarpofacial syndrome has been reported in the published literature.

Phenotype severity distribution: 26 always present features, 15 very common features, 10 common features.

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

No clinical trials have been registered for cardiospondylocarpofacial syndrome.

104 publications have been identified in PubMed for cardiospondylocarpofacial syndrome. Research spans Case Report / Case Series (46%), Epidemiology / Natural History (18%), and Review / Meta-Analysis (17%).