Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency

Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency, also known as achondroplasia-severe combined immunodeficiency syndrome, is related to achondroplasia and severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency. Affiliated tissues include pancreas and thymus, and related phenotypes are recurrent respiratory infections and lymphopenia