Cleidocranial dysplasia

Also known as

  • Cleidocranial Dystosis (CCD) Marie Sainton Disease

Cleidocrainial dysplasia is a genetic condition that primarily affects the development of the bones and teeth.

Condition details

Abnormal Large soft spot at birth, that can remain open for many years. Missing clavicals or part formed clavicals resulting in sloping shoulders. 94% of individuals have delayed erupton of adult teeth and failure to loose milk teeth. Tapered fingers and short broad thumbs. Individuals with CCD are shorter than unaffected siblings. ENT ,Hearing loss and recurrent ear infections, requiring grommets. Skeletal/orthapedic problems. Individuals with CCD more likely to have bone related issues,hip dyplasia, flat feet knock-knee and some have scoliosis. Individuals will have normal intellgence.

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Can manifest in Baby
  • Can manifest in Toddler
  • Can manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Can manifest in Adult

Symptoms

Affected genes identified to date

  • RUNX2 Gene

Inheritance patterns

Is Autosomal dominant

if parent affected. the risk to siblings is 50%.

Are carriers affected?

Parent has a one in two chance of passing this on to a sibling.50%

How many are affected?

1-per million word lwide

Support groups and organisations

Tel
Facebook https://www.facebook.com/groups/1533169823613201/

Known experts

No experts found

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