1 Answers
Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of achondroplasia which is characterized by short stature, bowing of the long bones, and generalized metaphyseal abnormalities alongside signs of SCID such as recurrent severe infections, failure to thrive, chronic diarrhea, and a notable absence of T and B lymphocytes. It is inherited in an autosomal recessive manner. Around 11 cases have been described in medical literature.
4 views
Answered