Features include very common findings: Hypertelorism, Brachycephaly, Wide nasal bridge, and Frontal bossing and others; and common findings: Abnormality of the dentition, Low muscle tone (hypotonia), Ridged nail, and Sprengel anomaly and others. 70 total HPO annotations.

EFNB1 encodes ephrin B1 (346 aa). Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Highest expression in Nerve Tibial (92.0 TPM) and Skin Not Sun Exposed Suprapubic (90.4 TPM).

Craniofrontonasal syndrome is caused by mutations in the EFNB1 gene on chromosome X.

The EFNB1 protein participates in EFNBs bind SDCBP and EPHBs bind EFNBs pathways.

EFNB1 is classified as a druggable target (Cell Surface, Druggable Genome, and Kinase categories) with score 6.5.

Genetic testing for EFNB1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 8 very common features, 29 common features.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for craniofrontonasal syndrome.

14 publications have been identified in PubMed for craniofrontonasal syndrome. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (29%), and Epidemiology / Natural History (14%).