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Cleidocranial Dysplasia [CCD]

What is Cleidocranial Dysplasia?

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).

Characteristics include:

  • Delayed closure (ossification) of the space between the bones of the skull (fontanels)

  • Premature closing of the coronal suture

  • Protruding jaw (mandible) and protruding brow bone (frontal bossing)

  • Wide nasal bridge due to increased space between the eyes (hypertelorism)

  • High arched palate or possible cleft palate

  • Short stature

  • Scoliosis of the spine

This U. S. National Library of Medicine article on Cleidocranial Dysplasia.
ghr.nlm.nih.gov/condition/cleidocranial-dysplasia

Gene Reviews article, developed at the University of Washington, Seattle.
www.ncbi.nlm.nih.gov/books/NBK1513

Why did this happen?
There is no link between anything the mother did or did not do while she was pregnant and the occurrence of Cleidocranial Dysplasia. It is transmitted as an autosomal dominant trait. CCD is caused by mutation in the RunX2 gene on Chromosome 6p21.

 

Will this happen to children I have in the future?

If both parents are unaffected, it is called a spontaneous genetic mutation and the chances of having another child with it are very small. If one parent is affected, it is called an inherited genetic mutation and there is a 50% chance that a child will have it. Of all the cases of Cleidocranial Dysplasia, one-third are spontaneous and two-thirds are genetic.

What kinds of problems could my child have?
In addition to the physical characteristics common to Cleidocranial Dysplasia, your child may have the following problems:

  • Dental abnormalities - failure to lose the baby teeth (deciduous) at the expected time; slow eruption of secondary teeth; extra teeth; delayed or absent formation of teeth

  • Ability to touch the shoulders together in front of the body

  • Wide pelvic bone

  • Loose joints

  • Hearing loss and/or frequent infections

Will my child need surgery?
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.

How do I get help for my child?

Your child should be treated by a qualified craniofacial medical team at a craniofacial center. Currently, FACES has information on many of these teams. This is by no means a comprehensive list of all the craniofacial teams.

Please Contact Us for details

Am I alone?
No! There are many families and organizations who will be glad to talk with you and help you with information and support. Don't forget books, videos, and websites. (Facebook has dozens of private groups specific to conditions. Try searching Facebook with a few different key words such as "craniofacial" or "burn" and find groups of parents and others with similar differences.) The information below will help you get started.

FACES: The National Craniofacial Association

We provide financial support for non-medical expenses to patients traveling to a craniofacial center for treatment. Eligibility is based on financial and medical need (Apply Here). Resources include newsletters, information about craniofacial conditions, and networking opportunities. Contact Us for more information.

CCD Smiles

At CCD Smiles we bring people together, support research and help with dental costs for those with cleidocranial dysplasia.

Website: https://ccdsmiles.org/
 

Office of Rare Diseases

The Genetic and Rare Diseases Information Center

Excellent web site for finding information on a variety of craniofacial disorders, particularly very rare ones. Information specialists are available to answer your questions. Telephone operation is Monday - Friday, 12 pm to 6 pm Eastern Time. Email or fax requests for information will be answered within 5-10 working days. U.S. Mail requests will be answered within 5-10 working days. NOTE: The center does not give medical advice, provide treatment, or diagnose illness.
Phone: (888) 205-2311
Website: https://rarediseases.info.nih.gov/diseases/6118/cleidocranial-dysplasia

US National Library of Medicine

Your guide to understanding genetic conditions

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

National Health Law Program

Provides extensive information on health care law affecting families with children who have special health care needs.
Phone: (202) 289-7661
Website: https://healthlaw.org/

Worldwide CCD Map
A map showing where people with CCD live. If you would like to add yourself, please do!

Website: https://www.diseasemaps.org/cleidocranial-dysplasia/

Additional Resources

Suggested Reading

Children with Facial Difference:

A Parent's Guide


Written by Hope Charkins, MSW. Excellent resource for parents to help them cope with medical, emotional, social, educational, legal, and financial challenges presented by facial differences of their children. Order from Amazon.com if you cannot find it in your local bookstore.

FACES: The National Craniofacial Association

FACES: The National Craniofacial Association

P.O. Box 11082 | Chattanooga, TN 37401 | USA

(800) 332-2373

FACES is a member organization of America's Best Charities
FACES is a member organization of GuideStar Exchange
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Faces: The National Craniofacial Association is a 501©(3) nonprofit organization incorporated under the laws of the State of Tennessee.