Question
How is the pediatric skull and clavicle dysplasia syndrome caused? Is it just a congenital malformation?
Answer
The pediatric skull and clavicle dysplasia syndrome is a congenital skeletal system developmental anomaly, often a familial genetic developmental disorder. The disease-causing gene has been confirmed as “RUNX2 locus,” located on chromosome 6p21, controlling the mutation of the specific transcription factor gene of osteoblasts. The affected range includes slow ossification of the skull, slow closure of sutures, which may take until the age of 4 to gradually ossify and may not be completed until adulthood. It is essential to avoid any impact or injury to the head at all times to protect it; because of the poor development of the thoracic cage, it is easy to cause respiratory obstruction, so individuals with underdeveloped clavicles should avoid lifting heavy objects. Treatment involves both internal medicine and surgery, with continuous evaluation of conditions caused by delayed craniofacial development.