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Docs Tag: bones

Cleidocranial dysplasia (CCD)

What is cleidocranial dysplasia (CCD)?

Cleidocranial dysplasia (say: clie-doh-CRAY-nee-ul diss-PLAY-zee-a) is a genetic condition that mainly affects:

  • the development of bones (particularly the skull and collarbones)
  • the teeth
Upper body with normal collarbone and an upper body with partly missing collarbone
A child with CCD may have partly or completely missing collarbones.

How cleidocranial dysplasia affects the body

The symptoms of CCD vary considerably from one person with CCD to another. This is true even of people in the same family who have CCD.

CCD is very rare and occurs in one in one million children worldwide. Both boys and girls can have CCD.

Fontanelle or soft spot and skull bones identified in top of a baby’s head
A fontanelle is a soft spot between the skull bones on a baby’s head. Newborns have several fontanelles that normally close within the first two years of life.

Bone problems

CCD is a disorder of bone development. The various problems of bone development include:

  • the spaces between the bones of the skull (fontanelles) take longer than expected to close. In a small percentage of people, the fontanelles may not close completely during their lifetime.
  • partly or completely missing collarbones, which can lead to a narrow chest with sloping shoulders
  • osteoporosis (lower bone density)
  • narrow pelvis and/or abnormal shape of the pelvic bones
  • shorter stature (height)
Child with both shoulders and arms together directly in front of chest
A child with partly or completely missing collarbones has the ability to bring their shoulders forward in front of their chest.

Dental problems

People with CCD lose their primary teeth (baby teeth) and get their secondary teeth (adult teeth) late. This causes overcrowding of teeth and mal-alignment of the jaw.

Height and body shape

People with CCD can be shorter in height. The final height of boys is about six inches shorter than expected. For girls, the final height is about three inches shorter.

People with CCD are more likely to have other changes in their bones like:

  • short, tapered fingers and broad thumbs
  • flat feet
  • knocking knees

Osteoporosis

People with CCD have a higher chance to develop osteoporosis (low bone density). The bone density is measured by a special test called a DEXA scan.

Medical problems

People with CCD often have recurrent chest, sinus and ear infections. Repeated ear infections may cause hearing loss.

Caesarean section

Women with CCD are more likely to need a Caesarean section to give birth because they have a narrow pelvis and/or abnormally shaped pelvic bones.

Information taken from https://www.aboutkidshealth.ca/Article?contentid=879&language=English