Features include always present findings: Camptodactyly, Skeletal muscle hypertrophy, Hallux valgus, and Pugilistic facies and others; and common findings: Congenital hip dislocation, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Brachyturricephaly, and Thick vermilion border and others. 46 total HPO annotations.

FHL1 encodes four and a half LIM domains 1 (323 aa). May have an involvement in muscle development or hypertrophy Highest expression in Muscle Skeletal (2,025 TPM) and Artery Tibial (1,151 TPM).

Uruguay Faciocardiomusculoskeletal syndrome is associated with mutations in the FHL1 gene on chromosome X.

The FHL1 protein participates in Complement cascade pathway.

FHL1 is classified as a druggable target with score 17.4.

Genetic testing for FHL1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 26 common features.

No clinical trials have been registered for Uruguay Faciocardiomusculoskeletal syndrome.

1 publication has been identified in PubMed for Uruguay Faciocardiomusculoskeletal syndrome. Research spans Review / Meta-Analysis (100%).

Recent Publications

• Simons J (2025). [PMID: 40156242](https://pubmed.ncbi.nlm.nih.gov/40156242/). *Journal of neuromuscular diseases*. [Review / Meta-Analysis]