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Marshall syndrome

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Description

Marshall syndrome (MRSHS) is charactized by midfacial hypoplasia, cleft palate, ocular anomalies including high myopia and cataracts, sensorineural hearing loss, short stature with spondyloepiphyseal dysplasia, and arthropathy. In constrast 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).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

28

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Genes

External Links

  • OMIM

    154780

  • Orphanet

    560

  • HPO
  • Medgen

    C0265235

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