Cleidocranial Dysplasia (CCD)

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Cleidocranial Dysplasia (CCD) is also known as Cleidocranial Dysostosis, Dysplasia Osteodental and Marie-Sainton Disease.

CCD stands for Cleidocranial Dysplasia.  Cleido refers to the clavicles or collarbones, cranial means head and dysplasia means unusual growth/development.

CCD is a genetic disorder which is congenital (meaning it is present at birth).  It is a skeletal condition affecting the development of bones and teeth.

The physical signs of CCD can include large wide open fontanelles (soft spots in a baby's head) at birth, which may remain open throughout life.  Someone with the condition can have wide set eyes (hypertelorism) and a head shape which could be described as wide (brachcephalic).  An under-developed midface can also be a feature of the condition.

Narrow sloping shoulders with a wide range of shoulder movements that would not occur normally, including the ability to move the shoulders in front of the chest, are also a feature.  This is due to either complete or partial absence of the collarbones (clavicles). 

Multiple dental problems can occur including failure to lose baby teeth at the expected time, delay or failure of adult teeth to appear and extra/supernumerary teeth with dental crowding.

Individuals tend to be shorter than average for their family and have short tapering fingers and broad thumbs.  There is an increased chance of curvature of the spine (scoliosis) and other skeletal problems such as flat feet.

Some people can have hearing loss due to fluid in the middle ear.  Recurrent sinus and ear infections are common.  A tendency for obstructive sleep apnoea (OSA), which is restriction of air flow into the lungs during sleep, has been reported.

The condition can be variable, even within the same family, and affects both males and females.  Estimates for the incidence of CCD vary widely from 1 in 1,000,000 to 1 in 500,000.

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Diagnosis

Diagnosis of CCD is made on the basis of clinical examination and x-ray findings.  Genetic testing can be used to confirm the diagnosis or clarify the diagnosis where the findings are unclear.

Treatment

The treatment of CCD is symptomatic meaning the symptoms are addressed to improve quality of life e.g. dental procedures to remove additional teeth.

Care should be coordinated through a paediatrician who can refer to craniofacial or neurosurgery specialists, an ear, nose and throat (ENT) surgeon or audiology (hearing) doctor.  Referral to an orthodontist for the management of the dental problems before the age of 6 years has been recommended.  Hearing should be screened and followed up on a regular basis. 

In some cases where the soft spots in the head are large, the head may need protection from injury by use of a helmet for high-risk activities. If bone density is below normal this can be treated using calcium and vitamin D.

Genetics and Inheritance

CCD is caused by a misprint (mutation) in the genetic code. In 60-70% of people with a clinical diagnosis of CCD, a mutation in the RunX2 gene is present and confirms the diagnosis. This gene is located on chromosome 6. About 1/3 of CCD cases are due to a new (spontaneous) mutation, without either parent having the condition. The remaining 2/3 of cases have been inherited from a parent with the condition.

Each child of an individual with CCD has a 50% (1 in 2) chance of inheriting the condition. This is known as an 'autosomal dominant' inheritance pattern. It is not possible to predict how mildly or severely a child who inherits the condition would be affected, even when the mutation is identified.

Genetic Services and Testing

Genetic testing methods change over time. A consultant geneticist from an NHS genetic clinic can arrange testing of the RunX2 gene, if this is needed, review the inheritance pattern and provide up-to-date screening advice. Families are welcome to seek advice at various times of life from the genetic service or paediatrician. For example, when a child growing up with CCD or their siblings want more details, they could ask about the condition for themselves.

Contact other families affected by CCD

We will try to put you in touch with other families affected by CCD. Fill in the form below and a member of our support team will get back to you within 7 working days.

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