Differential diagnosis There is an overlap in symptoms between<unk>  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<unk> . 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<unk> . CHARGE syndrome can also be misdiagnosed. This is because both CHARGE syndrome and<unk>  share symptoms of ocular colobomas, cardiac defects, growth retardation, and minor facial abnormalities. Coffin-Siris syndrome presents with fifth-finger deformities and congenital heart defects. It is distinguished from<unk>  by differences in facial dysmorphisms.
3C syndrome
CAMFAK syndrome
3-M syndrome
TEMPI syndrome
TAN syndrome
WAGR syndrome
RIDDLE syndrome
VEXAS syndrome