Features include always present findings: Hypertelorism, Dislocated radial head, Elbow contracture, and Prominent supraorbital ridges and others; and very common findings: Downslanted palpebral fissures, Inner ear hearing loss (sensorineural hearing impairment), Flared metaphysis, and Sideways curvature of the spine (scoliosis) and others. 56 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).

Frontometaphyseal dysplasia 2 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.

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

2 clinical trials registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE2, 1 PHASE1. Research is primarily industry-sponsored.

2 publications have been identified in PubMed for frontometaphyseal dysplasia 2. Research spans Basic Science / Preclinical (50%) and Epidemiology / Natural History (50%).

Recent Publications

• Zhu T (2026). [PMID: 42040894](https://pubmed.ncbi.nlm.nih.gov/42040894/). *Hum Mutat*. [Basic Science / Preclinical]

• Yuan YY (2025). [PMID: 40010783](https://pubmed.ncbi.nlm.nih.gov/40010783/). *Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery*. [Epidemiology / Natural History]