Catalog

Short-limb skeletal dysplasia with severe combined immunodeficiency

No MMS code

Link to WHO Definition

Short-limb skeletal dysplasia with severe combined immunodeficiency – http://id.who.int/icd/entity/469016488

Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterised by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.