Cleidocranial dysplasia

Cleidocranial dysplasia (CCD ) is a very rare autosomal dominantly inherited disease that affects the development of bones, skull and teeth. A typical sign is partial or full aplasia of the clavicles, tooth anomalies, delayed closing of the fontanelles , as well as osteopenia , hearing disorders, hand bone abnormalities, recurrent otitis and sinusitis. People with CCD may develop scoliosis, osteoporosis , and short stature.

The disorder is most often caused by the presence of mutations in the RUNX2 gene ( Runt-related transcription factor 2 ), whose protein product is a key transcription factor affecting osteoblast differentiation and bone morphogenesis.

There is no causal treatment, the care is aimed at alleviating difficulties and depending on the severity of the symptoms, a craniofacial surgeon, dentist, orthodontist, endocrinologist, otorhinolaryngologist, speech therapist and orthopedist are involved.

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