Short answer · Medically reviewed summary · Last updated: 2026-05-08
Cleidocranial dysplasia is a rare genetic condition primarily characterized by the underdevelopment or absence of collarbones (clavicles) and delayed closure of the skull’s soft spots (fontanelles). Individuals with cleidocranial dysplasia often exhibit distinctive dental anomalies, including supernumerary (extra) teeth and delayed eruption of permanent teeth, which are hallmarks of the condition. What are the most common symptoms of cleidocranial dysplasia? The clinical presentation of cleidocranial dysplasia is highly variable, even within the same family.
2 people with Cleidocranial Dysplasia have shared their first-person experience on this question at DiseaseMaps.
Which are the symptoms of Cleidocranial Dysplasia?
Symptoms of Cleidocranial Dysplasia reported by real patients, from the most common to the most limiting, plus a medically reviewed summary with sources.
Cleidocranial dysplasia is a rare genetic condition primarily characterized by the underdevelopment or absence of collarbones (clavicles) and delayed closure of the skull’s soft spots (fontanelles). Individuals with cleidocranial dysplasia often exhibit distinctive dental anomalies, including supernumerary (extra) teeth and delayed eruption of permanent teeth, which are hallmarks of the condition.
What are the most common symptoms of cleidocranial dysplasia?
The clinical presentation of cleidocranial dysplasia is highly variable, even within the same family. The most frequent features involve skeletal and dental development:
- Skeletal abnormalities: Hypoplastic or absent clavicles, which may allow the shoulders to be brought together in front of the chest.
- Craniofacial features: A large, prominent forehead (frontal bossing), a wide-set appearance of the eyes (hypertelorism), and a midface deficiency.
- Dental anomalies: The presence of supernumerary teeth, which often prevent permanent teeth from erupting, and a high-arched palate.
- Stature: Many individuals with cleidocranial dysplasia experience short stature compared to their peers.
How do symptoms impact daily quality of life?
For the 89 members of our DiseaseMaps community, the most significant daily challenges often relate to oral health and speech development. Dental complications in cleidocranial dysplasia frequently require complex orthodontic and surgical interventions to manage impacted teeth. Additionally, while the lack of clavicles generally does not limit physical movement, it can lead to minor shoulder instability or muscle weakness in the upper extremities.
When should families seek medical attention?
While cleidocranial dysplasia is typically diagnosed in childhood, parents should monitor for complications involving the spine or skull. Seek immediate medical evaluation if a child experiences persistent headaches, vision changes, or signs of spinal cord compression, as these may indicate secondary issues requiring neurosurgical input. Symptoms in cleidocranial dysplasia generally do not "progress" in a degenerative sense, but dental and skeletal needs may evolve significantly throughout adolescence.
Next steps
- Consult with a craniofacial team or a pediatric geneticist to coordinate multidisciplinary care.
- Schedule regular evaluations with a specialized orthodontist familiar with the management of supernumerary teeth.
- Join the cleidocranial dysplasia community on DiseaseMaps.org to share experiences with others managing this diagnosis.
Medical disclaimer: This information is for educational purposes and does not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Cleidocranial dysplasia overview.
- Orphanet: Rare disease database entry for Cleidocranial dysplasia (ORPHA:205).
- OMIM (Online Mendelian Inheritance in Man): Entry #119600 for Cleidocranial dysplasia.
- Cleidocranial Dysplasia Foundation: Patient resources and clinical guidelines.
Posted May 16, 2017 by Paige 600
The bones of the clavicle may be absent or have an abnormal development. This makes the shoulders together in front of body.
The primary teeth do not fall off at the expected time. The permanent teeth may develop later than normal and an additional series of these teeth grows inward. This causes the normal teeth are crooked.
The disease does not affect the intelligence of the patient.
Other symptoms may include:
Ability to gather both shoulders in front of body
Delay in the closure of the fontanelles ("soft spots")
Joints loose
Prominent forehead (bossing front)
Forearms shorts
Fingers of the hand short
Cleidocranial dysplasia (CHD) is a rare genetic disorder of bone growth characterized by clavicles hipoplásicas or aplásicas, persistence of fontanelles and sutures open, and multiple dental abnormalities.
Posted May 17, 2017 by Sonia 1370
