PMID 26022637. == External links ==
Strumpellin is highly expressed in skeletal muscle cells and mutations in it are also associated with spastic paraplegia. Strumpellin is involved in endosomal transport and cell death processes. The mutation occurs at a splice site  and causes a substantial decrease in the amount of strumpellin produced by the cell. The phenotype is similar to 6pter-p24 deletion syndrome and 6p25 deletion syndrome but has a different etiology. Screening for the condition prenatally may be done with ultrasound. First-trimester ultrasounds can detected nuchal abnormalities
Second-trimester ultrasounds can pick up characteristic major structural abnormalities.Prenatal diagnosis is possible through genetic testing. Chorionic villus sampling or chorionic villus biopsy (CVS) in the first-trimester. Amniocentesis in the second-trimester.Because 3C syndrome is an autosomal recessive disorder, parents with one child with the disorder have a 25% chance of having another child with the disorder. Diagnosis
Differential diagnosis
There is an overlap in symptoms between 3C syndrome and Joubert syndrome. Joubert syndrome often manifests with similar cerebellar hypoplasia and its sequelae, including hyperpnea, ataxia, changes in eye movement, and cleft lip and palate. Occasionally, Joubert syndrome will include heart malformations. Brachmann–de Lange syndrome must also be differentiated from 3C syndrome. It presents with similar craniofacial and heart abnormalities and can include Dandy–Walker phenotype, making it difficult to distinguish. Dandy-Walker malformation is also occasionally seen in Ellis–Van Creveld syndrome, which is characterized by heart defects and malformed alveolar ridge. Many disorders include the Dandy–Walker phenotype and thus it is not pathognomonic for 3C syndrome.CHARGE syndrome can also be misdiagnosed.