Features include always present findings: Inability to walk, Low muscle tone (hypotonia), Increased endomysial connective tissue, and Reduced forced vital capacity and others; and very common findings: Follicular hyperkeratosis, Joint hypermobility, Difficulty breathing due to muscle weakness (respiratory insufficiency due to muscle weakness), and EMG: myopathic abnormalities. 38 total HPO annotations.

TRIP4 function has not been fully characterized.

Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome is associated with mutations in the TRIP4 gene on chromosome 15.

Genetic testing for TRIP4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 4 very common features, 20 common features.

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

No clinical trials have been registered for congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome.

101 publications have been identified in PubMed for congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome. Research spans Case Report / Case Series (28%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (19%).