Short-limb skeletal dysplasia with severe combined immunodeficiency

Disease Overview

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.[11183][11184][11185] Achondroplasia with severe combined immunodeficiency is inherited in an autosomal recessive manner.[11184][11185]

Synonyms

• SLSD with SCID
• Achondroplasia so-called and severe combined immunodeficiency
• Achondroplasia-SCID syndrome
• Achondroplasia-severe combined immunodeficiency syndrome
• Achondroplasia-Swiss type agammaglobulinemia syndrome
• Immunodeficiency-short limb dwarfism syndrome
• Short limb skeletal dysplasia with SCID