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Disease Profile

Short-limb skeletal dysplasia with severe combined immunodeficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

D82.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

SLSD with SCID; Achondroplasia so-called and severe combined immunodeficiency; Achondroplasia-SCID syndrome;

Categories

Congenital and Genetic Diseases; Immune System Diseases

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 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]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Cellular immunodeficiency
0005374
Lymphopenia
Decreased blood lymphocyte number
Low lymphocyte number

[ more ]

0001888
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Severe combined immunodeficiency
0004430
30%-79% of people have these symptoms
Agammaglobulinemia
0004432
Biparietal narrowing
0004422
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture

[ more ]

0002213
Reduced bone mineral density
Low solidness and mass of the bones
0004349
5%-29% of people have these symptoms
Abnormality of the pancreas
0001732
Aganglionic megacolon
Enlarged colon lacking nerve cells
0002251
Anemia
Low number of red blood cells or hemoglobin
0001903
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

0100543
Inguinal hernia
0000023
Long fibula
Long calf bone
0003085
Malabsorption
Intestinal malabsorption
0002024
Pectus excavatum
Funnel chest
0000767
White hair
0011364
Percent of people who have these symptoms is not available through HPO
Abnormal thorax morphology
Abnormality of the chest
0000765
Autosomal recessive inheritance
0000007
Death in childhood
0003819
Hypoplasia of the thymus
Small thymus
0000778
Metaphyseal chondrodysplasia
0005871

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    In-Depth Information

    • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
    • 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 Short-limb skeletal dysplasia with severe combined immunodeficiency. Click on the link to view a sample search on this topic.

      References

      1. Gennery A. Short-limb skeletal dysplasia with severe combined immunodeficiency. Orphanet. March 2013; https://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; https://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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016741/pdf/jmedgene00027-0012.pdf.