Short-limb skeletal dysplasia with severe combined immunodeficiency
Short-limb skeletal dysplasia with severe combined immunodeficiency
Definition
Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized 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.
Also known as achondroplasia-SCID syndrome, achondroplasia-severe combined immunodeficiency syndrome, achondroplasia-Swiss type agammaglobulinemia syndrome, immunodeficiency-short limb dwarfism syndrome, short limb skeletal dysplasia with SCID, short-limb skeletal dysplasia with severe combined immunodeficiency — per MONDO