Rare Diseases Symptoms Automatic Extraction

[Clinical condition and therapy of bone diseases].

[achondroplasia]

Skeletal dysplasia is the term which represents disorders including growth and differentiation of bone, cartilage and ligament. A lot of diseases are included, and new disorders have been added. However, the therapy of most bone diseases is less well-established. Achondroplasia, hypochondroplasia, and osteogenesis imperfecta are most frequent bone diseases. There is no curative treatment for these diseases, however, supportive therapies are available ; for example, growth-hormone therapy for achondroplasia and hypochondroplasia, and bisphosphonate therapy for osteogenesis imperfecta. In addition, enzyme replacement therapy for hypophosphatasia is now on clinical trial.

Diseases presenting "skeletal dysplasia" symptom

  • achondroplasia
  • aromatase deficiency
  • cohen syndrome
  • dentinogenesis imperfecta
  • gm1 gangliosidosis
  • oligodontia

This symptom has already been validated