|Classification and external resources|
Hypoplasia of the clavicles and bell-shaped rib cage in the patient with CDD
It is usually autosomal dominant, but in some cases the cause is not known. It occurs due to haploinsufficiency caused by mutations in the CBFA1 gene (also called Runx2), located on the short arm of chromosome 6, which encodes transcription factor required for osteoblast differentiation.
It results in delayed ossification of midline structures of the body, particularly membranous bone.
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:
- Clavicles (collarbones) can be partly missing leaving only the medial part of the bone. In 10% cases, they are completely missing. If the collarbones are completely missing or reduced to small vestiges, this allows hypermobility of the shoulders including ability to touch the shoulders together in front of the chest. The defect is bilateral 80% of the time. Partial collarbones may cause nerve damage symptoms and therefore have to be removed by surgery.
- The chest is narrow
- The mandible is prognathic due to hypoplasia of maxilla (micrognathism) and other facial bones.
- A soft spot or larger soft area in the top of the head where the fontanelle failed to close, or the fontanelle closes late.
- Bones and joints are underdeveloped. People are shorter and their frames are smaller than their siblings who do not have the condition.
- The permanent teeth include supernumerary teeth. Unless these supernumeraries are reabsorbed before adolescence, they will crowd the adult teeth in what already may be an underdeveloped jaw. If so, the supernumeraries will probably need to be removed to make space for the adult teeth. Up to 13 supernumarary teeth have been observed. Teeth may also be displaced in orbits. Cement formation is also deficient.
- Failure of eruption of permanent teeth.
- Frontal Bossing (bulging) of the forehead.
- Open skull sutures, large fontanelles.
- Delayed ossification of bones forming symphysis pubis, producing a widened symphysis.
- Coxa vara can occur, limiting abduction and causing Trendelenburg gait.
- Short medial fifth phalanges, sometimes causing short and wide fingers.
- Vertebral abnormalities.
- On rare occasions, brachial plexus irritation can occur.
- Scoliosis, spina bifida and syringomyelia have also been described.
Clinically, different features of the dysostosis are significant. Radiological imaging helps confirm the diagnosis. During gestation (pregnancy), clavicular size can be calculated using available nomograms. Wormian bones can sometimes be observed in the skull.
Absence of the clavicles, combined with craniofacial abnormalities, occurs in this condition
- Frontal bossing, wide skull sutures with multiple wormian bones and persistently open anterior fontanelle
- prominent jaw with multiple supernumerary teeth
- variable hypoplasia or pseudoarthrosis particularly the lateral end of the clavicles. Missing distal clavicle.
- small scapulae. The glenoid fossae maybe hypoplastic
- narrow thorax with incompletely ossified sternum
- the vertebral bodies retain an infantile biconvex shape
- there is dysraphism in the lower cervical spine.
- absent or delayed ossification of the pubic bones. Widening of the pubic symphysis.
- hypoplastic iliac wings,
- short middle phalanges with cone-shaped epiphyses and tapering of the terminal phalanges
- undermodelling of the shafts of the long bones
- pseudoarthrosis of the long bones is rare
- Congenital Basilar invagination
• Generalized osteosclerosis • Erlenmeyer flask deformity of distal femur • Bone-within-bone appearance • Alternating dense and lucent metaphyseal lines
Around 5 years of age, surgical correction may be necessary to prevent any worsening of the deformity. If the mother has dysplasia, caesarian delivery is necessary. Craniofacial surgery may be necessary to correct skull defects  Coxa vara is treated by corrective femoral osteotomies. If there is brachial plexus irritation with pain and numbness, excision of the clavicular fragments can be performed to decompress it. In case of open fontanelle, appropriate headgear may be advised by the orthopedist for protection from injury.
The incidence is estimated at 1:200,000.
At the rescue of Jessica McClure, Ron Short, a muscular man (a roofing contractor) who was born without collarbones because of cleidocranial dysostosis and so could collapse his shoulders to work in cramped corners, arrived at the site and offered to go down the shaft; they accepted his offer, although did not use it.
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- Vanderwerf, Sally (1998). Elsevier's medical terminology for the practicing nurse. Elsevier. p. 65. ISBN 9780444824707.
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- Kennedy, J. Michael (1987-10-17). "Jessica Makes It to Safety—After 58 1/2 Hours". Los Angeles Times.
- Cleidocranial Dysplasia-An Enigma Among Anomalies
- The National Craniofacial Association
- Medical Imaging on CCD
- GeneReviews/NCBI/NIH/UW entry on Cleidocranial Dysplasia
- Radiology of CCD Images from MedPix
- YouTube video of Shoulder Dance by comedian Emmet Furrow
- YouTube video of male teenager with no collarbones and thus hypermobile shoulders