Chondrodystrophia Fetalis Calcificans

Chondrodystrophia Fetalis Calcificans

Article
Brain & Nerve
Bone, Muscle, & Joint
+4
Contributed byMaulik P. Purohit MD MPHOct 31, 2020

The topic Chondrodystrophia Fetalis Calcificans you are seeking is a synonym, or alternative name, or is closely related to the medical condition Achondroplasia.

Quick Summary:

  • Achondroplasia is a genetic disorder that affects bone growth and development. It is caused by a mutation in the FGFR3 gene
  • Most cases of Achondroplasia (about 90%) arise due to a new mutation, not passed on by the parents. The disorder can also be passed on to the offspring (as an autosomal dominant trait) from one or both parents having the disorder
  • The normal function of the protein coded by the FGFR3 gene is to inhibit cartilage growth. A normal cartilage is required for proper bone growth. When FGFR3 gene is mutated, it results in increased inhibition of cartilage growth, which ultimately results in suppressed skeletal growth
  • Achondroplasia affected individuals are short in stature and often have disproportionately short limbs, when compared to the rest of their body
  • Achondroplasia does not have a cure. However, the bony abnormalities are usually not associated with changes in intelligence, reproductive capacity, or how long the individuals may live
  • Affected individuals may need lifelong treatment that may involve the use of growth hormones, limb lengthening, and other surgical procedures, with appropriate management of the complications that arise from the condition
  • The prognosis for Achondroplasia is generally ‘fair to good’ and many individuals are able to generally lead normal lives, with only a slight reduction in overall life expectancy

Please find comprehensive information on Achondroplasia regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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