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CLEIDOCRANIAL DYSPLASIA
Maryam ArbabHouse OfficerSBDC
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.
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
EPIDEMIOLOGY
The incidence is estimated at 1:200,000.
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
hypertelorism
High arched palate or possible cleft palate
Short stature
Osteopenia - decreased bone density
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.
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.
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.
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
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.
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.
In case of open fontanelle, appropriate headgear may be advised by the orthopedist for protection from injury.
