Medicine:Short-limb skeletal dysplasia with severe combined immunodeficiency
From HandWiki
| Short-limb skeletal dysplasia with severe combined immunodeficiency | |
|---|---|
| Other names | Achondroplasia-SCID syndrome |
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| Specialty | Medical genetics |
| Symptoms | Achondroplasia-like symptoms alongside SCID-like symptoms |
| Complications | Infections which may result in premature death |
| Usual onset | Birth |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Prevention | None |
| Prognosis | Poor |
| Frequency | 11 cases reported in medical literature |
| Deaths | Out 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
- ↑ "Short-limb skeletal dysplasia with severe combined immunodeficiency — About the Disease — Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/2988/short-limb-skeletal-dysplasia-with-severe-combined-immunodeficiency.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Short limb skeletal dysplasia with severe combined immunodeficiency" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=935.
- ↑ "Short-limb skeletal dysplasia with severe combined immunodeficiency (Concept Id: C1860168) - MedGen — NCBI" (in en). https://www.ncbi.nlm.nih.gov/medgen/348040.
- ↑ "Entry - 200900 - Short-limb skeletal dysplasia with severe combined immunodeficiency — OMIM" (in en-us). https://omim.org/entry/200900#12.
- ↑ 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. https://pubmed.ncbi.nlm.nih.gov/5951879/.
- ↑ 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. https://pubmed.ncbi.nlm.nih.gov/5809843/.
- ↑ 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. https://pubmed.ncbi.nlm.nih.gov/5026207/.
- ↑ 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. PMID 1999827.
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