Cleidocranial Dysplasia: Causes, Symptoms, and Treatment

Medically reviewed by Sumiran Racherla, MD, Internal Medicine. Last reviewed: October 23, 2026.

What kind of doctor treats Cleidocranial Dysplasia?

A dentist (a doctor for teeth) and a medical geneticist (a doctor who diagnoses inherited conditions) often take part in care. Some people also see an orthopedic surgeon (a bone doctor). A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.

What is cleidocranial dysplasia?

Cleidocranial dysplasia is a condition that mainly affects how the bones and teeth grow. Symptoms can vary widely, even within the same family. Most people with it have collarbones that are underdeveloped or missing. These bones are also called clavicles. It is present from before birth. The condition affects girls and boys equally. About 1 in a million people have it worldwide.

Symptoms

Symptoms can include:

  • Narrow, sloping shoulders that can be brought close together in front of the body.
  • Large soft spots on the heads of infants, called fontanelles, which may stay open throughout life.
  • A wide, short skull, a prominent forehead, wide-set eyes, a flat nose, and a small upper jaw.
  • Being shorter than other family members of the same age.
  • Primary teeth that do not fall out at the expected time.
  • Loose joints.
  • Short, tapered fingers, broad thumbs, flat feet, and knock knees.
  • An abnormal curvature of the spine, called scoliosis.
  • Dental problems, such as delayed loss of baby teeth, extra teeth, and misaligned teeth.

Some young children are mildly delayed in motor skills such as crawling and walking, but intelligence is unaffected. People with this condition often have decreased bone density.

Causes and who gets it

This condition is usually caused by mutations in the RUNX2 gene. This gene gives instructions for making a protein that helps teeth, bones, and cartilage develop. In about 30 percent of people with the condition, no RUNX2 mutation has been found. The cause is unknown in these people.

The condition is inherited in an autosomal dominant pattern. This means one copy of the altered gene in each cell is enough to cause it. Some people inherit the mutation from an affected parent. Often that parent is mildly affected. Other cases result from new mutations in the gene, in people with no history of the disorder in their family.

How doctors diagnose it

The health care provider will take your family history. The provider will do a physical examination and may do a series of x-rays. The x-rays check for undergrowth of the collarbone and the shoulder blade. They also check for failure of the area in the front of the pelvis bone to close. The disease may be diagnosed during pregnancy.

Treatment

MedlinePlus says there is no specific treatment for this condition. Care depends on each person's symptoms. Most people with the disease need regular dental care and head gear to protect skull bones until they close. They also need ear tubes for frequent ear infections and surgery to correct any bone abnormalities. In most cases, the bone symptoms cause few problems. Complications include dental problems and shoulder dislocations.

When to see a doctor

Contact your provider if you plan to have a child and have a family history of this condition. Also contact your provider if you have a child with similar symptoms. Call 911 or go to the emergency room if there is a head or spine injury or trouble breathing.

How a direct primary care or concierge doctor fits in

A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Genetic counseling is appropriate if a person with a family or personal history of this condition is planning to have children.

Common questions

Does cleidocranial dysplasia affect intelligence?

No, intelligence is unaffected. Some young children are mildly delayed in motor skills such as crawling and walking.

Is there a specific treatment for cleidocranial dysplasia?

No, MedlinePlus says there is no specific treatment. Care depends on each person's symptoms. Most people with the disease need regular dental care and head gear to protect skull bones until they close. They also need ear tubes for frequent ear infections and surgery to correct any bone abnormalities.

Is cleidocranial dysplasia inherited?

Yes, it is inherited in an autosomal dominant pattern. This means one copy of the altered gene in each cell is enough to cause it.

Sources

  1. MedlinePlus - Cleidocranial dysplasia (MedlinePlus Genetics)
  2. MedlinePlus - Cleidocranial dysostosis (Medical Encyclopedia)

Medical Disclaimer

This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.