Cleidocranial dysplasia (cleido = collar bone, + cranial = head, + dysplasia = abnormal forming) is a rare skeletal dysplasia also known as Cleidocranial Dysostosis and Marie-Sainton Disease, characterized by short stature, distinctive facial features and narrow, sloping shoulders caused by defective or absent collarbones (clavicles).
Major symptoms may include premature closing of the soft spot on the head (coronal), delayed closure of the space between the bones of the skull (fontanels), narrow and abnormally shaped pelvic and pubic bones and deformations in the chest (thoracic region). Delayed eruption of teeth, moderately short stature, a high arched palate, a wide pelvic joint, failure of the lower jaw joints to unite, and fingers that are irregular in length may also be present. Cleidocranial dysplasia is inherited as an autosomal dominant genetic trait.
Other Characteristics include:
What kinds of problems might be experienced? 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. The cause is not yet known, but several chromosome abnormalities have been linked with this syndrome, including chromosome 6p21. 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
Scoliosis of the spine
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
Hearing loss and/or frequent infections
Treatment of a Patient with Cleidocranial Dysplasia Using Osseointegrated Implants: A Patient Report
Children’s Craniofacial Association
13140 Coit Road
Dallas, TX 75240
FACES: The National Craniofacial Association
P. O. Box 11082
Chattanooga, TN 37401
This organization provides 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
Fax: (202) 966-5689
Web site: https://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.