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3C Syndrome Report an error in disease page


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.


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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