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GTR Home > Conditions/Phenotypes > Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Synonyms
Muscular dystrophy, congenital, davignon-chauveau type

Summary

A rare congenital muscular dystrophy characterised by neonatal hypotonia, life-threatening respiratory failure and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalised joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fibre size variability, rounded fibres with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibres and cap lesions. [from SNOMEDCT_US]

Available tests

13 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ASC-1, ASC1, HsT17391, MDCDC, SMABF1, ZC2HC5, TRIP4
    Summary: thyroid hormone receptor interactor 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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