Achondrogenesis

Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of serious health problems, infants with achondrogenesis usually die before ...1

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Symptoms of Achondrogenesis

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Causes of Achondrogenesis

Cause: Research has shown that changes ( mutations) in the SLC26A2 and COL2A1 genes cause achondrogenesis types 1B and 2, respectively. The genetic cause of achondrogenesis type 1A remains unknown. The SLC26A2 gene provides instructions for making a protein that is ...2

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Causes List for Achondrogenesis

Some possible causes of Achondrogenesis or similar disorders may include:3

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Types of Achondrogenesis

Some types of this condition may include:4 Types of achondrogenesis:

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Diagnosis of Achondrogenesis

Diagnosis: Genetic testing can help distinguish between the different types of achondrogenesis. GeneTests lists the names of laboratories that are performing genetic testing for achondrogenesis type 1B and type 2. Please note: Most of the laboratories listed through GeneTests do ...5

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Genetics of Achondrogenesis

Genetic Changes: Mutations in the TRIP11 , SLC26A2 , and COL2A1 genes cause achondrogenesis type 1A, type 1B, and type 2, respectively. The genetic cause of achondrogenesis type 1A was unknown until recently, when researchers discovered that the condition can result from ...6

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Names and Terminology

Other Names for This Condition

  • achondrogenesis syndrome

Source: GHR (NLM/NIH)7 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ achondrogenesis
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 2882/ achondrogenesis
  3. Source: Algorithmically Generated List
  4. Source: Disease Ontology
  5. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 2882/ achondrogenesis
  6. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ achondrogenesis
  7. ibid.

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.