Aim: Occurrence of main symptoms and the rate of spontaneous mutations in patients with cleidocranial dysplasia.
Method: 24 patients with variable phenotypic expression of CCD were examined symptomatically. The main focus was placed on findings in the shoulder girdle, craniofacial symptoms and alterations in radiologic opacity.
Results: The average age of the patients was 18.3 years. In our patient cohort, 58.3% were spontaneous mutations. Abnormal apposition of the shoulders were found in 88% of the patients. Craniofacial symptoms were diagnosed in 88%. An increase of the radiologic skull density was apparent in 95%.
Conclusion: The expression of this rare disorder is variable and its symptomatology not always apparent. Spontaneous mutations occur frequently. Due to the high prevalence of the considered symptoms, the diagnosing physician should focus on the facial appearance and shoulder abnormalities. In cases of ambiguous findings we recommend a consultation of an experienced clinician as well as genetic counseling.