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Start free with EleplanCleidocranial dysplasia
ORPHA:1452Malformation syndrome
Also called Cleidocranial dysostosis
What it is
Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.
Key facts
- Prevalence
- 1-9 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal dominant, Not applicable
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
19- Abnormality of dental enamel
- Abnormality of the dentition
- Carious teeth
- Down-sloping shoulders
- Frontal bossing
- High, narrow palate
- Hypertelorism
- Hypoplasia of the zygomatic bone
- Hypoplastic inferior ilia
- Large fontanelles
- Micrognathia
- Narrow chest
- Recurrent respiratory infections
- Short clavicles
- Short stature
- Skeletal dysplasia
- Sloping forehead
- Supernumerary tooth
- Wormian bones
Common30–79%
18- Abnormal metacarpal morphology
- Abnormal rib morphology
- Abnormal sacrum morphology
- Brachydactyly
- Chin dimple
- Chronic otitis media
- Decreased skull ossification
- Delayed eruption of teeth
- Depressed nasal bridge
- Hearing abnormality
- Hearing impairment
- Mandibular prognathia
- Midface retrusion
- Open bite
- Osteoporosis
- Short face
- Sinusitis
- Spina bifida occulta
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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