Diagnosis of<unk>  usually can occur at birth by assessing the physical appearance of the infant. Further analysis, including radiographs, magnetic resonance imaging (MRI) scans, genetic testing and CT scans can be used to confirm the diagnosis of<unk> .
Crouzon syndrome
Sandhoff disease
Okamoto syndrome
Yushō disease
Barakat syndrome
Friedreich's ataxia
Stratton Parker syndrome
Satoyoshi syndrome