Abstract
Cleidocranial dysplasia, linked to a mutation in the
From Volume 18, Issue 1, February 2025 | Pages 33-44
Cleidocranial dysplasia, linked to a mutation in the
Cleidocranial dysplasia (CCD) (OMIM 119600) is also referred to as cleidocranial dysostosis, Marie–Sainton syndrome and osteodental dysplasia. The condition, including a combination of aplasia or hypoplasia of one or both clavicles, short skull, delayed ossification of the fontanelles and short stature, was independently described by Scheuthauer,1 and Marie and Sainton2 in the late nineteenth century.
Table 1 provides a summary of some of the background information on CCD. The condition has a prevalence of 0.5 per 100,000 live births3 and affects males and females equally. CCD affects all ethnic groups and has a wide geographic distribution.4 The majority of children with CCD have normal intelligence. They need to be monitored since they may experience orthopaedic complications, dental abnormalities, upper airway obstruction, sinus and ear infections, hearing loss and osteoporosis. Children with CCD should be under the care of multiple teams, including general paediatricians, orthopaedic surgeons, craniofacial or neurosurgical specialists, ear, nose and throat specialists, audiologists, paediatric dentists, oral and maxillofacial surgeons, orthodontists and medical geneticists.
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