The diagnosis of<unk>  is based on the presence of all five categories; cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. Detection of the hypoplasia of the cerebellar vermis is achieved through a cranial magnetic resonance imaging (MRI) scan. The presence of the ‘molar tooth sign’ (MTS) on the MRI scan, a mid- brain hind- brain malformation, confirms this condition and is a key indicator of<unk> . The MTS’s distinguished shape is attributed to the lengthened superior cerebellar peduncles and deepened interpeduncular fossa. To diagnose ataxia, both neurological assessment and physical examination are required. This can include MRI scans, study of behavior and motor skills in infancy and analysis of family history and genetics. In the case of congenital ataxia, patients are born with the condition and thus diagnosis is more difficult, therefore diagnosis of ataxia alone is not sufficient to indicate<unk> , and must be used in conjunction with other symptoms. Oligophrenia, more commonly known as intellectual disability, is diagnosed using personalized testing to measure intelligence and physical examination for anomalies and facial dysmorphia. Hepatic fibrosis has a range of diagnostic techniques, including invasive and non- invasive. Liver biopsy examination is an invasive technique, which uses liver tissue extracted from the patient to identify the degree and severity of the fibrosis, and may also provide insight on tumor growth. Ultrasonography- based tests use radiation waves to measure the stiffness of the tissue and are non- invasive. Serum tests are also non- invasive, and diagnose liver complications on the basis of the amount and presence of certain proteins and chemicals in the body. Kidney cysts can be discovered using ultrasound techniques, and monitoring of the patient's urine concentrating ability for any abnormalities can indicate other renal complications such as nephronophthisis.
COACH syndrome
Adams–Stokes syndrome
MOMO syndrome
Wunderlich syndrome
Hopkins syndrome
PHACE syndrome
Edwards syndrome
PEHO syndrome