Cleidocranial dysplasia is a genetic condition characterized by defective development of the skull bones and absence or partial absence of the collar bones. It is caused by mutations in the CBFA1 gene. Symptoms include delayed closure of fontanels, protruding jaw, wide nasal bridge, dental abnormalities like delayed tooth eruption and peg-shaped teeth. Diagnosis is confirmed through x-rays showing features like reduced or fragmented clavicles. Treatment focuses on surgical correction of skull defects and dental/orthodontic work to address significant dental problems.

1. CLEIDOCRANIAL DYSPLASIA
Maryam Arbab
House Officer
SBDC

2. DEFINITION
 It 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.
 ( cleido = collar bone, cranial = head, dysplasia =
abnormal forming )
 Also known as Cleidocranial Dysostosis and Marie-
Sainton Disease.

4. ETIOLOGY
 It is familial and appears as true dominant
characteristic.
 Mutations in the core binding factor alpha 1 (CBFA)
gene located on chromosome 6p21 is the cause of
cleidocranial dysplasia.
 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

5. EPIDEMIOLOGY
 The incidence is estimated at 1:200,000.

6. CLINICAL FEATURES
 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

7. hypertelorism

8.  High arched palate or possible cleft palate
 Short stature
 Osteopenia - decreased bone density

9. ORAL MANIFESTATIONS
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.

10.  Maxilla & paranasal sinuses are underdeveloped
resulting in maxillary macrognathia.
 Complete absence of cementum.
 Roots of teeth are often short and thinner than
normal.
 Crown may be pilled as a result of enamel
hypoplasia.

12. DIAGNOSIS
 Radiological imaging helps in confirming the
diagnosis.
 Clavicles are typically reduced to single or double
fragments on each side with middle part being
deficient.
 Changes are asymmetric.
 Large fontanelles, multiple wormian bones and
underdeveloped paranasal sinuses.

14. TREATMENT
 No specific treatment.
But certain procedures can be performed :
 Around 5 years of age, surgical correction may be
necessary to prevent any worsening of the deformity.
 Craniofacial surgery may be necessary to correct skull
defects

15. Dental treatment :
 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.

16.  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.
 Speech therapy may be required during periods of dental
treatment.
 Retained deciduous teeth should be restored if they
become carious.

17.  In case of open fontanelle, appropriate headgear
may be advised by the orthopedist for protection
from injury.