Client Stories

Contact Us


Medical Centers

Paying the Bills

Adopt A Face

Newsletter Archive

FACES Events


The Independent Charities Seal of Excellence

Sign Up For Our Newletter

* First Name
* Last Name
* Email
* = Required Field

Make a Gift to FACES todayHow Can I Help?


Shop Amazon Smile


FACES UnMasked


Find us on Facebook Tweet us on TwitterFind us on YouTube Find us on Google+Google+

FACES: The National Craniofacial Association
(423) 266-1632
(800) 332-2373
P.O. Box 11082, Chattanooga, TN 37401

Cleidocranial Dysplasia

Download PDF information sheet

Back to Craniofacial Anomalies

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:

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:

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:

New advances in procedures to treat Cleidocranial Dysplasia are constantly being developed. Be an advocate for your child!

Back to top

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 FACES 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. This listing below will get you started.

FACES: The National Craniofacial Association
P. O. Box 11082
Chattanooga, TN 37401
(800) 332-2373
Email: faces@faces-cranio.org
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. Resources include newsletters, information about craniofacial conditions, and networking opportunities.

Office of Rare Diseases
The Genetic and Rare Diseases Information Center
P. O. Box 8126
Gaithersburg, MD 20898-8126
(888) 205-2311
Fax: (202) 966-5689
Email: gardinfo@nih.gov
Web site: rarediseases.info.nih.gov
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.

National Health Law Program
1444 I St., NW, Ste. 1105
Washington, DC 20005
(202) 289-7661
Website: www.healthlaw.org
Provides extensive information on health care law affecting families with children who have special health care needs.

Children with Facial Difference:
A Parent's Guide

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

This U. S. National Library of Medicine website has an excellent article on Cleidocranial Dysplasia.

Excellent article from Gene Reviews, developed at the University of Washington, Seattle.

Helpful Website on craniofacial differences: Let's Face It

Back to top