View source for Medicine:Short-limb skeletal dysplasia with severe combined immunodeficiency

{{Infobox medical condition
 |name            = Short-limb skeletal dysplasia with severe combined immunodeficiency
 |synonyms        = Achondroplasia-SCID syndrome
 |image           = Autosomal recessive - en.svg
 |image_size      = 200px
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 |pronounce       = 
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 |specialty       = Medical genetics
 |symptoms        = Achondroplasia-like symptoms alongside SCID-like symptoms
 |complications   = Infections which may result in premature death
 |onset           = Birth
 |duration        = Lifelong
 |types           = 
 |causes          = Genetic mutation
 |risks           = <!-- or |risk= -->
 |diagnosis       = 
 |differential    = 
 |prevention      = None
 |treatment       = <!-- or |management= -->
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 |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 [[Medicine:Achondroplasia|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 [[Medicine:Diarrhea|diarrhea]], and a notable absence of T and B lymphocytes.<ref>{{Cite web |title=Short-limb skeletal dysplasia with severe combined immunodeficiency&nbsp;— About the Disease&nbsp;— Genetic and Rare Diseases Information Center |url=https://rarediseases.info.nih.gov/diseases/2988/short-limb-skeletal-dysplasia-with-severe-combined-immunodeficiency |access-date=2022-07-05 |website=rarediseases.info.nih.gov |language=en}}</ref><ref>{{Cite web |last=RESERVED |first=INSERM US14-- ALL RIGHTS |title=Orphanet: Short limb skeletal dysplasia with severe combined immunodeficiency |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=935 |access-date=2022-07-05 |website=www.orpha.net |language=en}}</ref><ref>{{Cite web |title=Short-limb skeletal dysplasia with severe combined immunodeficiency (Concept Id: C1860168) - MedGen&nbsp;— NCBI |url=https://www.ncbi.nlm.nih.gov/medgen/348040 |access-date=2022-07-05 |website=www.ncbi.nlm.nih.gov |language=en}}</ref> Around 11 cases have been described in medical literature.<ref>{{Cite web |title=Entry - 200900 - Short-limb skeletal dysplasia with severe combined immunodeficiency&nbsp;— OMIM |url=https://omim.org/entry/200900#12 |access-date=2022-07-05 |website=omim.org |language=en-us}}</ref><ref>{{Cite journal |last1=McKusick |first1=V. A. |last2=Cross |first2=H. E. |date=1966-02-28 |title=Ataxia-telangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of the immune mechanism in related Amish sibships |url=https://pubmed.ncbi.nlm.nih.gov/5951879/ |journal=JAMA |volume=195 |issue=9 |pages=739–745 |doi=10.1001/jama.195.9.739 |issn=0098-7484 |pmid=5951879}}</ref><ref>{{Cite journal |last1=Gatti |first1=R. A. |last2=Platt |first2=N. |last3=Pomerance |first3=H. H. |last4=Hong |first4=R. |last5=Langer |first5=L. O. |last6=Kay |first6=H. E. |last7=Good |first7=R. A. |date=1969-10-01 |title=Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia |url=https://pubmed.ncbi.nlm.nih.gov/5809843/ |journal=The Journal of Pediatrics |volume=75 |issue=4 |pages=675–684 |doi=10.1016/s0022-3476(69)80465-8 |issn=0022-3476 |pmid=5809843}}</ref><ref>{{Cite journal |last1=Say |first1=B. |last2=Tinaztepe |first2=B. |last3=Tinaztepe |first3=K. |last4=Kiran |first4=O. |date=1972-03-01 |title=Thymic dysplasia associated with dyschondroplasia in an infant |url=https://pubmed.ncbi.nlm.nih.gov/5026207/ |journal=American Journal of Diseases of Children |volume=123 |issue=3 |pages=240–244 |doi=10.1001/archpedi.1972.02110090110017 |issn=0002-922X |pmid=5026207}}</ref><ref>{{Cite journal |last1=MacDermot |first1=K. D. |last2=Winter |first2=R. M. |last3=Wigglesworth |first3=J. S. |last4=Strobel |first4=S. |date=1991-01-01 |title=Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review |journal=Journal of Medical Genetics |volume=28 |issue=1 |pages=10–17 |doi=10.1136/jmg.28.1.10 |issn=0022-2593 |pmc=1016741 |pmid=1999827}}</ref>

== References ==
{{reflist}}

[[Category:Rare diseases]]
[[Category:Genetic diseases and disorders]]
[[Category:Autosomal recessive disorders]]


{{Sourceattribution|Short-limb skeletal dysplasia with severe combined immunodeficiency}}