Cleidocranial Dysplasia (CCD) – A Rare Condition

Did You Know? CCD occurs in 1 in 1 million children worldwide  

Cleidocranial Dysplasia is a Rare Disorder That Affects Males and Females Equally 

People with CCD Often Have Recurrent Chest, Sinus and Ear Infections

Cleidocranial Dysplasia (CCD) is a genetic condition characterized by defective development of the cranial bones, complete or partial absence of the clavicles, and other distinctive characteristics that will be discussed in this article. This article will also discuss diagnosis and treatment of CCD. 

01 | Diagnosing CCD

With high-risk pregnancies, Cleidocranial Dysplasia can be diagnosed before birth by testing DNA taken from the fetus. DNA can be obtained by:

• Amniocentesis after the 15^th week of pregnancy
• Chrorionic Villus Sampling (CVS) between the 11^th and 14^th week of pregnancy

Sometimes CCD can be observed during an ultrasound, but in many cases, if amniocentesis or CVS is not performed, the disease will not be detected until after the infant’s birth, and will be diagnosed based on the results of imaging tests and physical examination. DNA testing of the RUNX2 genes will likely be ordered for a conclusive diagnosis of CCD. 

02 | Characteristics

The symptoms of CCD vary from one patient to another and may include the following:

• Bone problems
  • The bones of the skull may take longer than normal to close, or may not close completely
  • Partially or completely missing collarbones
  • Osteoporosis
  • Narrow and/or abnormal shape of pelvis
• Dental Problems – patients lose their primary teeth and get their secondary teeth late. This can cause overcrowding and misalignment of the jaw.
• Height and Body Shape
  • Shorter stature
  • Short, tapered fingers and broad thumbs
  • Flat feet
  • Knocking knees

03 | Treatment

People with CCD have a normal life expectancy and can lead fulfilling lives if they receive focused care for their condition. Treatment may include:

• Treatment of dental problems
• Speech therapy
• Treatment of recurrent infections
• Prevention of head injuries
• Calcium and Vitamin D supplementation

Patients can lead active, healthy lives; however, due to their different appearance, children may be prone to feeling isolated in school and in public. It is important for parents and others to provide support so that young CCD patients can thrive. 

For more information on helping children with CCD, please visit: http://www.ccakids.com/  

References

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http://www.aboutkidshealth.ca/En/HealthAZ/ConditionsandDiseases/GeneticDisorders/Pages/cleidocranial-dysplasia.aspx 

http://www.faces-cranio.org/Disord/CCD.htm 

https://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia#diagnosis