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GTR Home > Conditions/Phenotypes > Laryngo-onycho-cutaneous syndrome

Laryngo-onycho-cutaneous syndrome

Synonyms
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2C, LARYNGOONYCHOCUTANEOUS; Laryngoonychocutaneous syndrome; Logic syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Junctional epidermolysis bullosa 2C (JEB2C), also known as laryngoonychocutaneous syndrome (LOCS), is an autosomal recessive disorder characterized by skin erosions, nail dystrophy, dental anomalies, and excessive vascular granulation tissue of the conjunctiva and larynx. Onset is characterized by a hoarse cry soon after birth. Beginning in infancy, chronic skin ulcers and conjunctival lesions appear. Patients may die in childhood secondary to acute or chronic respiratory obstruction. Long-term survivors have visual loss and often require tracheostomy (McLean et al., 2003). For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650). Reviews Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa. [from OMIM]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BM600, E170, JEB2A, JEB2B, JEB2C, LAMNA, LOCS, LAMA3
    Summary: laminin subunit alpha 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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