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Rhizomelic chondrodysplasia punctata, type 3

Rhizomelic chondrodysplasia punctata, type 3: Introduction

Rhizomelic chondrodysplasia punctata, type 3: A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (alkyldihydroxyacetonephosphate synthase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 2q31. More detailed information about the symptoms, causes, and treatments of Rhizomelic chondrodysplasia punctata, type 3 is available below.

Symptoms of Rhizomelic chondrodysplasia punctata, type 3

Causes of Rhizomelic chondrodysplasia punctata, type 3

Read more about causes of Rhizomelic chondrodysplasia punctata, type 3.

Less Common Symptoms of Rhizomelic chondrodysplasia punctata, type 3

Statistics for Rhizomelic chondrodysplasia punctata, type 3

Rhizomelic chondrodysplasia punctata, type 3: Broader Related Topics

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Definitions of Rhizomelic chondrodysplasia punctata, type 3:

Rhizomelic chondrodysplasia punctata, type 3 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Rhizomelic chondrodysplasia punctata, type 3, or a subtype of Rhizomelic chondrodysplasia punctata, type 3, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

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More information about Rhizomelic chondrodysplasia punctata, type 3

  1. Rhizomelic chondrodysplasia punctata, type 3: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
 

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