Rare Diseases Symptoms Automatic Extraction

Optimal management of complications associated with achondroplasia.

[achondroplasia]

Achondroplasia is the most common form of skeletal dysplasia, resulting in disproportionate short stature, and affects over 250,000 people worldwide. Individuals with achondroplasia demonstrate a number of well-recognized anatomical features that impact on growth and development, with a complex array of medical issues that are best managed through a multidisciplinary team approach. The complexity of this presentation, whereby individual impairments may impact upon multiple activity and participation areas, requires consideration and discussion under a broad framework to gain a more thorough understanding of the experience of this condition for individuals with achondroplasia. This paper examines the general literature and research evidence on the medical and health aspects of individuals with achondroplasia and presents a pictorial model of achondroplasia based on The International Classification of Functioning, Disability, and Health (ICF). An expanded model of the ICF will be used to review and present the current literature pertaining to the musculoskeletal, neurological, cardiorespiratory, and ear, nose, and throat impairments and complications across the lifespan, with discussion on the impact of these impairments upon activity and participation performance. Further research is required to fully identify factors influencing participation and to help develop strategies to address these factors.

Diseases presenting "common form" symptom

  • achondroplasia
  • alexander disease
  • benign recurrent intrahepatic cholestasis
  • cadasil
  • child syndrome
  • classical phenylketonuria
  • cutaneous mastocytosis
  • erythropoietic protoporphyria
  • familial mediterranean fever
  • hereditary cerebral hemorrhage with amyloidosis
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • oral submucous fibrosis
  • pendred syndrome
  • primary hyperoxaluria type 1
  • severe combined immunodeficiency
  • thoracic outlet syndrome

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