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Geleophysic dysplasia 2

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Description

Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. Major findings are likely to be present in the first year of life. Cardiac, respiratory, and lung involvement result in death before age five years in approximately 33% of individuals with ADAMTSL2-related geleophysic dysplasia.

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

54

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Genes

External Links

  • OMIM

    614185

  • Orphanet
  • HPO
  • Medgen

    C3280054

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