- Source: Short-limb skeletal dysplasia with severe combined immunodeficiency
Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare autosomal recessive 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. Around 11 cases have been described in medical literature.
References
Kata Kunci Pencarian:
- Short-limb skeletal dysplasia with severe combined immunodeficiency
- Achondroplasia
- Cartilage–hair hypoplasia
- List of diseases (S)
- Spondyloenchondrodysplasia
- RNase MRP
- List of OMIM disorder codes
- List of abbreviations for diseases and disorders
