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Tall stature-scoliosis-macrodactyly of the great toes syndrome

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Description

Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.

ORDO

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

91

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Genes

External Links

  • OMIM

    615923

  • Orphanet

    329191

  • HPO
  • Medgen

    C4014690

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