Short-limb skeletal dysplasia with severe combined immunodeficiency

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Short-limb skeletal dysplasia with severe combined immunodeficiency
Other namesAchondroplasia-SCID syndrome
Autosomal recessive - en.svg
Specialty Medical genetics
Symptoms Achondroplasia-like symptoms alongside SCID-like symptoms
Complications Infections which may result in premature death
Usual onsetBirth
DurationLifelong
Causes Genetic mutation
PreventionNone
Prognosis Poor
Frequency11 cases reported in medical literature
DeathsOut of the 11 cases reported in OMIM, 4 seem to have died.

Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare autosomal recessive type of achondroplasia which is characterized by short stature, bowing of the long bones, and generalized metaphyseal abnormalities alongside signs of SCID such as recurrent severe infections, failure to thrive, chronic diarrhea, and a notable absence of T and B lymphocytes. [1] [2] [3] Around 11 cases have been described in medical literature. [4] [5] [6] [7] [8]

References

  1. ↑ "Short-limb skeletal dysplasia with severe combined immunodeficiency — About the Disease — Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-07-05.
  2. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Short limb skeletal dysplasia with severe combined immunodeficiency". www.orpha.net. Retrieved 2022-07-05.{{cite web}}: CS1 maint: numeric names: authors list (link)
  3. ↑ "Short-limb skeletal dysplasia with severe combined immunodeficiency (Concept Id: C1860168) - MedGen — NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-07-05.
  4. ↑ "Entry - 200900 - Short-limb skeletal dysplasia with severe combined immunodeficiency — OMIM". omim.org. Retrieved 2022-07-05.
  5. ↑ McKusick, V. A.; Cross, H. E. (1966-02-28). "Ataxia-telangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of the immune mechanism in related Amish sibships". JAMA. 195 (9): 739–745. doi:10.1001/jama.195.9.739. ISSN   0098-7484. PMID   5951879.
  6. ↑ Gatti, R. A.; Platt, N.; Pomerance, H. H.; Hong, R.; Langer, L. O.; Kay, H. E.; Good, R. A. (1969-10-01). "Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia". The Journal of Pediatrics. 75 (4): 675–684. doi:10.1016/s0022-3476(69)80465-8. ISSN   0022-3476. PMID   5809843.
  7. ↑ Say, B.; Tinaztepe, B.; Tinaztepe, K.; Kiran, O. (1972-03-01). "Thymic dysplasia associated with dyschondroplasia in an infant". American Journal of Diseases of Children. 123 (3): 240–244. doi:10.1001/archpedi.1972.02110090110017. ISSN   0002-922X. PMID   5026207.
  8. ↑ MacDermot, K. D.; Winter, R. M.; Wigglesworth, J. S.; Strobel, S. (1991-01-01). "Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review". Journal of Medical Genetics. 28 (1): 10–17. doi:10.1136/jmg.28.1.10. ISSN   0022-2593. PMC   1016741 . PMID   1999827.
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