Immunodeficiency with short-limbed stature

This code signifies a rare genetic disorder characterized by a primary immunodeficiency, making individuals susceptible to recurrent infections, coupled with disproportionately short limbs. It often involves skeletal abnormalities affecting the long bones, leading to dwarfism. The condition typically presents in infancy or early childhood with recurrent infections and growth delays.

Use this code for patients diagnosed with an immunodeficiency syndrome that specifically includes short-limbed stature as a defining feature. Documentation should clearly indicate both the immune system dysfunction (e.g., recurrent severe infections, specific immune cell deficiencies) and the presence of short-limbed dwarfism or other skeletal dysplasias consistent with this syndrome.

• Ensure documentation explicitly links the immunodeficiency to the short-limbed stature; do not use for isolated immunodeficiency or isolated short stature.
• Review for any associated genetic testing results or specific syndrome names (e.g., cartilage-hair hypoplasia) that fall under this umbrella.
• Consider additional codes for specific manifestations of the immunodeficiency (e.g., recurrent pneumonia, sepsis) or skeletal abnormalities if documented.