Cleidocranial Dysplasia (CCD), also known as Marie-Sainton disease or cleidocranial dysostosis, is a rare hereditary skeletal condition that follows an autosomal dominant pattern, though approximately 40% of cases arise from spontaneous mutations.
The condition is associated with mutations in the CBFA1 gene, also referred to as RUNX2, located on chromosome 6p21.
This gene encodes a key transcription factor required for osteoblast differentiation and dental development.
RUNX2 plays a fundamental role in the formation of bone and teeth, which accounts for the clinical manifestations of CCD.
While historically considered a disorder affecting only membranous bones, it is now recognized as a generalized skeletal dysplasia.
CCD is a rare condition with an estimated prevalence of 1 in 1,000,000 individuals, with no gender or racial predilection.
Despite significant skeletal and dentofacial anomalies, intellectual development in affected individuals is typically normal.
The diagnosis of CCD is usually based on clinical findings such as clavicular hypoplasia or aplasia—which enables patients to approximate their shoulders anteriorly—short stature, persistent open fontanelles, open cranial sutures, presence of wormian bones, midface hypoplasia, and mandibular prognathism.
From a dental perspective, CCD is characterized by prolonged retention of deciduous teeth, delayed eruption of permanent teeth, and multiple supernumerary teeth.
These dental anomalies are of particular concern to dental and orthodontic professionals.
Diagnosis is confirmed through clinical assessment and radiographic imaging, given the distinctive nature of its features.
