C
- Canavans sykdom
- Cartilage-hair hypoplasia (CHH)
- Charcot-Marie-Tooths sykdom
- CHARGE syndrom
- Chiari malformasjon
- Chilaiditis Syndrom
- Cleidocranial dysplasi
- Cockaynes syndrom
- Coffin-Siris syndrom
- Cohens syndrom
- Cornelia de Langes syndrom
- Costellos syndrom
- Craniofacial mikrosomi (OAVS)
- Cri du chat syndrom
- Crouzon syndrom
- Cystinose
- Medfødt binyrebarksvikt (CAH)