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Cleidocranial dysplasia (CCD) is a rare, autosomal dominant skeletal dysplasia affecting primarily the membranous bones of the skull and clavicle, resulting in abnormal skeletal and dental development.
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https://www.youtube.com/watch?v=iFYo_GudqOs
Genetic basis:
| Feature | Description |
|---|---|
| Gene | RUNX2 (CBFA1) mutation on chromosome 6p21 |
| Inheritance | Autosomal dominant (sporadic cases possible) |
| Pathogenesis | Impaired osteoblast differentiation → defective ossification of bones derived from intramembranous ossification (skull, clavicles, pelvis) |
| System | Features |
|---|---|
| Craniofacial | Frontal and parietal bossing, delayed closure of fontanelles and sutures, brachycephaly |
| Clavicles | Hypoplastic or absent clavicles, allowing shoulders to be approximated at midline |
| Stature | Short stature |
| Dental | Delayed eruption, supernumerary teeth, malocclusion, retained deciduous teeth |
| Spine | Scoliosis, spina bifida occulta, thoracolumbar kyphosis |
| Pelvis | Wide pubic symphysis, hypoplastic iliac wings |
| Thorax | Narrow, bell-shaped chest with sloping shoulders |
Cleidocranial dysplasia. a Failure of tooth eruption. b Plain radiograph showing left clavicular hypoplasia.
Colares P, de C. Demystifying Skeletal Dysplasias: A Practical Approach for the Pediatric Endocrinologist. Hormone Research in Paediatrics. Published online February 2, 2024:1-12. doi:https://doi.org/10.1159/000536564
Cleido cranial dysostosis e family with absent clavicles Shah IP et al., Skeletal dysplasia, Paediatrics and Child Health, https://doi.org/10.1016/j.paed.2020.03.004