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Langer-Giedion Syndrome

Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).

Year introduced: 1990

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Tree Number(s): C05.116.099.708.582

MeSH Unique ID: D015826

Entry Terms:

  • Langer Giedion Syndrome
  • Syndrome, Langer-Giedion
  • Giedion-Langer Syndrome
  • Giedion Langer Syndrome
  • Syndrome, Giedion-Langer
  • Trichorhinophalangeal Syndrome Type II
  • Trichorhinophalangeal Syndrome Type 2
  • Trichorhinophalangeal Syndrome, Type II
  • Tricho-Rhino-Phalangeal Syndrome Type II
  • Tricho Rhino Phalangeal Syndrome Type II
  • Acrodysplasia V
  • Acrodysplasia Vs
  • Trichorhinophalangeal Syndrome with Exostoses

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