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Diseases

Genetic and Rare Diseases Information Center (GARD)

Achondroplasia and severe combined immunodeficiency


Other Names for this Disease
  • Short-limb skeletal dysplasia with severe combined immunodeficiency
  • SLSD with SCID
  • Achondroplasia so-called and severe combined immunodeficiency
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Overview

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 with skeletal anomalies like short stature, bowing of the long bones and other abnormalities affecting the ends of the long bones (metaphyseal abnormalities). Children with this condition have a shortened life expectancy, generally surviving only into early childhood.[1][2][3] Achondroplasia with severe combined immunodeficiency is inherited in an autosomal recessive manner.[2][3]
Last updated: 4/7/2016

References

  1. Gennery A. Short-limb skeletal dysplasia with severe combined immunodeficiency. Orphanet. March 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=935.
  2. SHORT-LIMB SKELETAL DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY. Online Mendelian Inheritance in Man (OMIM). June 2, 2011; http://www.omim.org/entry/200900.
  3. MacDermot KD, Winter RM, Wigglesworth JS, Strobel S. Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.. J Med Genet. 1991 Jan; 28(1):10-7. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016741/pdf/jmedgene00027-0012.pdf.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Achondroplasia and severe combined immunodeficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Short-limb skeletal dysplasia with severe combined immunodeficiency
  • SLSD with SCID
  • Achondroplasia so-called and severe combined immunodeficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.