Features include always present findings: Shortening of all distal phalanges of the fingers and Wide nasal bridge; and very common findings: Short distal phalanx of finger, Long face, Midface retrusion, and Depressed nasal bridge and others. 50 total HPO annotations.

MGP encodes matrix Gla protein (103 aa). Associates with the organic matrix of bone and cartilage. Thought to act as an inhibitor of bone formation Highest expression in Artery Aorta (11,936 TPM) and Artery Coronary (5,508 TPM).

Keutel syndrome is caused by mutations in the MGP gene on chromosome 12.

MGP is classified as a druggable target (Druggable Genome category) with score 0.0.

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

Phenotype severity distribution: 2 always present features, 8 very common features, 10 common features.

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

No clinical trials have been registered for Keutel syndrome.

2 publications have been identified in PubMed for Keutel syndrome. Research spans Basic Science / Preclinical (100%).

Recent Publications

• Caiado H (2024). [PMID: 39684309](https://pubmed.ncbi.nlm.nih.gov/39684309/). *International journal of molecular sciences*. [Basic Science / Preclinical]

• Bak K (2024). [PMID: 39461577](https://pubmed.ncbi.nlm.nih.gov/39461577/). *Journal of structural biology*. [Basic Science / Preclinical]