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Marshall syndrome

Synonyms
Deafness, myopia, cataract, saddle nose-Marshall type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

Marshall syndrome (MRSHS) is characterized by midfacial hypoplasia, cleft palate, ocular anomalies including high myopia and cataracts, sensorineural hearing loss, short stature with spondyloepiphyseal dysplasia, and arthropathy. In contrast to Stickler syndrome type II, it has less severe eye findings but striking ocular hypertelorism, more pronounced maxillary hypoplasia, and ectodermal abnormalities (summary by Shanske et al., 1997 and Ala-Kokko and Shanske, 2009). [from OMIM]

Available tests

69 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (69 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CO11A1, COLL6, DFNA37, STL2, COL11A1
    Summary: collagen type XI alpha 1 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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