Definition:
3C syndrome is also known as cranio-cerebello cardiac (CCC dysplasia) or Ritscher-Schinzel (named after Ritscher and Schinzel who discovered the illness) and is a very rare case of disease. This syndrome is characterized by heart defects or heart malformations and other symptoms that involve the brain. As of 2006, a Kuwaiti medical journal showed that only 30 cases have been reported worldwide and these cases were discovered in Europe and North America. Due to the limited number of cases reported, this disease was classified as a rare type of illness. The molecular basis for this syndrome is still unknown.
Historical Background:
It was in the year 1987 that Ritscher and Schinzel observed two subjects who showed the symptoms of the illness. The two subjects, who were sisters, showed malformations on their faces, posterior fossa, and congenital heart defects. Following their observation, 20 more cases were reported wherein similar symptoms showed up. They soon named the illness 3C syndrome. Majority of those who suffered from the illness were children who were less than 6 years of age. One of the two subjects that were observed way back in 1987 still lives and she is the oldest living patient suffering from the illness.
Symptoms and Signs:
Glaucoma is a very common symptom of 3C syndrome. Other characteristics include the following:
1. congenital heart ailments
2. damaged nasal bridge
3. a case where the patient Dandy-walks
4. a prominent forehead
5. a high-vaulted palate or a narrow palate
6. eyes that are wide set
7. cleft soft palate
8. bifid uvula
9. ears that are low-set
10. a big-sized head
11. stunted mental development
12. defects on speech functions
13. abnormal number of ribs
14. a case called Simian crease
15. large fontanelle
16. lung disease (chronic inflammatory)
17. a mouth that's held open
18 anteverted nostrils
19. an abnormal-sized nose (small)
21. retardation of psychomotor skills
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