Cleidocranial dystosis also called cleidocranial dysplasia or mutational dysostosis is a heriditary congenital disorder, where there is a delayed ossification of midline structures. People with the condition usually Cleidocranial Dysplasia or mutational dysostosis is a hereditary congenital disorder, where there is a delayed ossification of midline structures. People with the condition usually present with a painless swelling in the area of the clavicles at 2-3 years of age. Common features are:
1. Clavicles can be partly missing leaving only the medial part of the bone.
2. The mandible is prognathic due to hypoplasis of maxilla and other facial bones
3. A soft spot or larger soft area in the top of the head where the fontanelle failed to close or the fontanelle closes late
4. Bones and joints are underdeveloped. People are shorter and their frames are smaller than their siblings who do not have the condition.
5. The permanent teeth include supernumerary teeth. Unless these are removed they will crowd the adult teeth in what already may be an underdeveloped jaw.
6. Failure of eruption of permanent teeth
7. Bossing of the forehead
8. Open skull sutures, large fontanelles
10. Delayed ossification of bones forming symphysis pubis, producing a widened symphysis
11. Coxa vara can occur, limiting abduction and causing trendelburg gait
12. Short medial fifth phalanges, sometimes causing short and wide fingers
13. Vertebral abnormalities
14. On rare occasions, brachial plexus irritation can occur
15. Scoliosis, spina bifida, and syringomyelia have also been described
HOW IS CLEIDOCRANIAL DYSPLASIA DIAGNOSED?
Clinical diagnosis of the condition differs largely based on the symptoms observed. Imaging scans can help in confirming the disease.
HOW IS CLEIDOCRANIAL DYSPLASIA TREATED?
Treatment of Cleidocranial Dysplasia varies from one individual to another. Until about 5yrs of age surgical correction of deformities helps prevent further worsening of bones. In case the mother has dysplasia, then the baby needs to be delivered through C-section. For correcting craniofacial bones, surgery is required.
DID YOU KNOW?
If the mother has dysplasia, normal delivery is not possible.