Achondroplasia and severe combined immunodeficiency

Summary: Achondroplasia with severe combined immunodeficiency is an extremely rare type of SCID. The condition is characterized by the classic signs of SCID, including severe and recurrent infections, diarrhea, failure to thrive, and absence of T and B lymphocytes along ...1

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Symptoms of Achondroplasia and severe combined immunodeficiency

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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Diagnosis

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Treatments

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Causes

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Genetics

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Names and Terminology

Other Names: Short-limb skeletal dysplasia with severe combined immunodeficiency; SLSD with SCID; Achondroplasia so-called and severe combined immunodeficiency ...Source: GARD (NIH)2 ...

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References

  1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 2988/ achondroplasia-and-severe-combined-immunodeficiency
  2. ibid.

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