3C syndrome
3C Syndrome
3C Syndrome (pronounced: three-see syndrome), also known as Craniocerebellocardiac Dysplasia (pronounced: kray-nee-oh-ser-uh-bel-oh-kar-dee-ak dis-pla-see-uh), is a rare genetic disorder characterized by growth retardation, developmental delay, and distinctive facial features. The name 3C stands for the three main features associated with the condition: craniofacial anomalies, cerebellar dysplasia, and cardiac defects.
Etymology
The term "3C Syndrome" is an acronym derived from the three main features of the condition: Craniofacial anomalies, Cerebellar dysplasia, and Cardiac defects. The term "Craniocerebellocardiac Dysplasia" is derived from the Greek words "kranion" (skull), "kerebellos" (cerebellum), "kardia" (heart), and "dysplasia" (abnormal growth or development).
Symptoms
The symptoms of 3C Syndrome can vary greatly among affected individuals. However, the three main features of the condition are:
- Craniofacial anomalies: These can include a small head (microcephaly), a prominent forehead, widely spaced eyes (hypertelorism), low-set ears, and a small jaw (micrognathia).
- Cerebellar dysplasia: This refers to underdevelopment of the cerebellum, the part of the brain that coordinates movement. This can lead to problems with balance and coordination.
- Cardiac defects: These can include a variety of heart problems, such as holes in the heart, abnormal heart valves, and other structural abnormalities.
Diagnosis
Diagnosis of 3C Syndrome is based on the presence of the characteristic clinical features. Genetic testing can confirm the diagnosis by identifying mutations in the RNF168 gene, which is known to cause the condition.
Treatment
Treatment for 3C Syndrome is symptomatic and supportive, focusing on managing the individual symptoms and complications. This can include surgical intervention for cardiac defects, physical therapy for motor delays, and special education services for developmental delays.
Prognosis
The prognosis for individuals with 3C Syndrome can vary depending on the severity of the symptoms. With appropriate treatment and management, many individuals with the condition can lead a normal life.
External links
- Medical encyclopedia article on 3C syndrome
- Wikipedia's article - 3C syndrome
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