Differential Diagnosis
There is an overlap between 3C syndrome and Joubert syndrome. Both have symptoms of hypotonia and retarded development. Patients with Joubert syndrome have been reported to have cardiac defects typical of 3C syndrome; a patient with 3C syndrome had hyperpneic episodes and abnormal eye movements typical of Joubert syndrome.
Another differential diagnosis can be Smith–Lemli–Opitz syndrome, also known as G syndrome. Patients with this condition have reported cardiac defects and cerebellar malformations. 3C syndrome and G syndrome share the same craniofacial features.
CHARGE syndrome can also be misdiagnosed. This is because both CHARGE syndrome and 3C syndrome share symptoms of ocular colobomas, cardiac defects, growth retardation, and minor facial abnormalities.
Read more about this topic: 3C Syndrome
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