Features include always present findings: Delayed eruption of teeth, Short stature, Epidermal acanthosis, and Enamel hypoplasia and others; and common findings: Difficulty swallowing (dysphagia), Esophageal stricture, Asthma, and Inner ear hearing loss (sensorineural hearing impairment). 13 total HPO annotations.

GRHL2 encodes grainyhead like transcription factor 2 (625 aa). Transcription factor playing an important role in primary neurulation and in epithelial development. Highest expression in Skin Not Sun Exposed Suprapubic (41.4 TPM) and Skin Sun Exposed Lower leg (39.8 TPM).

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is associated with mutations in the GRHL2 gene on chromosome 8.

The GRHL2 protein participates in Positive Regulation of CDH1 Gene Transcription pathway.

GRHL2 is classified as a druggable target (Enzyme and Transcription Factor categories) with score 0.0.

Genetic testing for GRHL2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 7 always present features, 4 common features.

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

No clinical trials have been registered for nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome.

14 publications have been identified in PubMed for nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome. Research spans Case Report / Case Series (71%), Basic Science / Preclinical (14%), and Other (7%).