The main clinical features consist of skeletal dysplasia. These manifestations are universal and present as disproportionate short stature with progressive kyphosis, meaning a bowed back and short legs and arms.
The children also show neurodevelopmental delay, which may be mild (school-going, learning defects), to severe with limited psychomotor development (not sitting , walking, talking).
Recurrent infections may occur early in life, being caused by an incomplete immune system. One important white blood cell type is insufficiently formed in the early months-years which may however show spontaneous recovery over time with a protective response by normal antibody generation upon vaccinations. This may in the end be true for the killed ‘dead’ vaccines as well as over time for the live-attenuated vaccines (measles-mumps-rubella). The latter should be avoided until the disease has shown sufficient immune recovery.
EXTL3