Cleidocranial dysplasia is a genetic condition characterized by defective bone development of the skull and absence or partial absence of the collarbone. It causes delayed closure of skull bones and late or unerupted teeth. Symptoms include protruding forehead, wide-set eyes, high-arched palate, and short stature. Dental issues are the most significant complications and require careful orthodontic treatment like dentures or staged tooth removal. The condition is inherited in an autosomal dominant pattern and results from mutations in the RunX2 gene.

1. Cleidocranial
Dysplasia
Presented by:
Dela Cruz, Beatrice, D.
DMD2D

3. Definition
 Cleidocranial Dysplasia (cleido = collar bone, +
cranial = head, + dysplasia = abnormal forming) , also
known as Cleidocranial Dysostosis and Marie-
Sainton Disease, is a condition characterized by
defective development of the cranial bones and by
the complete or partial absence of the collar bones
(clavicles).
 It is also characterized by late ossification of cranial
sutures and delayed tooth eruption.

4. Signs and Symptoms
 Delayed closure (ossification) of the space between
the bones of the skull (fontanels)
 Premature closing of the coronal suture
 Protruding jaw and protruding brow bone (frontal
bossing)
 Hypertelorism – wide nasal bridge due to
increased space between the eyes
 High arched palate or possible cleft palate
 Short stature
 Scoliosis of the spine
 Osteopenia - decreased bone density

5. Dental Correlation
 Dental abnormalities seen in cleidocranial
dysplasia may include:
Delayed loss of the primary teeth
Delayed appearance of the secondary teeth
 Unusually shaped, peg-like teeth
Misalignment of the teeth and jaws
(malocclusion)
Supernumerary teeth, sometimes
accompanied by cysts in the gums.

7. Dental Correlation
 Due to the fact that the dental problems are the most
significant complications, appropriate dental/orthodontic work
is vital. Some of the suggested treatment options include the
following:
 Apply dentures over the unerupted teeth
 Teeth removal as they erupt, because very little bone
structure would be left if the
supernumerary, impacted, and unerupted teeth were all
extracted at once
 Some doctors suggest that the removal of primary or
supernumerary teeth does not promote eruption of
unerupted permanent teeth. In addition, permanent teeth
may be difficult to extract due to malformed roots.
 Speech therapy may be required during periods of dental
treatment.

8. Classification
 Single gene/Mendelian Inheritance:
The disorder is transmitted in an
autosomal dominant manner. A parent
with the condition has a 50:50 chance that
each of their children will have the
condition. Boys and girls stand an equal
chance of being affected.
 Cytogenic location - CCD is caused by
mutation in the RunX2 gene on
chromosome 6p21.