Cleidocranial dysostosis
| Cleidocranial dysostosis | |
| ICD-10 | Q74.0 |
|---|---|
| ICD-9 | 755.59 |
| OMIM | 119600 |
| DiseasesDB | 30594 |
| MedlinePlus | 001589 |
| MeSH | D002973 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Cleidocranial dysostosis or Cleidocranial dysplasia is a hereditary congenital abnormality of humans due to haploinsufficiency caused by mutations in the CBFA1 gene.
Diagnosis
It has one or more of these features:
- The collarbones are partly or completely missing. If they are completely missing, the shoulders can touch each other in front of the chest.
- The fontanelles of the skull are late in closing, or never close.
- Extra teeth
- Permanent teeth not erupting.
- Bossing (= bulging) of the forehead.
The following are the imaging findings
- Poorly ossified skull, widening of the sutures and multiple wormian bones. In some patients the foramen magnum is deformed, and basilar invagination is often evident.
- Absence of the clavicles (either partial or total) may be observed
- Other findings include:
- Hypoplastic scapula
- Bell-shaped thorax
- Pelvic changes including delayed ossification of the pubic bones, a wide symphysis pubis and narrow iliac wings.
- Coxa valga or coxa vara deformity may also develop
- Spina bifida occulta is present in some cases
Patient #1
Patient #2
References
External links
- http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cleidocranial+Dysplasia
- http://www.cafamily.org.uk/Direct/c37.html
- The National Craniofacial Association
- http://www.medterms.com/script/main/art.asp?articlekey=6549
- http://www.dental.mu.edu/oralpath/lesions/cleidocraniadys/cleidocraniadys.htm
- http://www.ncbi.nlm.nih.gov/books/bv.fcgi?indexed=google&rid=gene.chapter.ccd
- Medical Imaging on CCD