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Spondylometaphyseal dysplasia with combined immunodeficiency

Orpha number ORPHA50816
Synonym(s) Roifman-Melamed syndrome
Spondyloenchondrodysplasia with immune dysregulation
Prevalence -
Inheritance -
Age of onset -
ICD-10 -
MeSH -
MedDRA -


This syndrome is characterized by combined immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia. It has been described in only four patients. Autoimmunity manifests as vitiligo, Crohn's disease, arthritis, thyroiditis, and thrombocytopenia. Skeletal manifestations affect the spine and metaphyseal regions of the long bones. Intercurrent infections might be fatal. Intellect is preserved. The condition is probably transmitted as an autosomal recessive trait. Features of this syndrome overlap with those of cartilage-hair hypoplasia, Schimke immuno-osseous dysplasia, Roifman syndrome and adenosine deaminase deficiency, although these syndromes involve pelvic bone abnormalities, and do not include various autoimmune disorders.

Expert reviewer(s)

  • Dr Juliette ALBUISSON

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