<unk>  is typically diagnosed on the basis of physical examination. At least three of four core criteria published by Courtens et al. (1997) must be present: # Total or partial agenesis of the corpus callosum # Minor craniofacial anomalies such as macrocephaly or hypertelorism # Moderate to severe psychomotor retardation with hypotonia # Polydactyly The differential diagnosis includes Greig cephalopolysyndactyly syndrome, orofaciodigital syndrome types I and II, Meckel–Gruber syndrome, Smith–Lemli–Opitz syndrome, Rubinstein–Taybi syndrome, Cockayne syndrome, Aicardi syndrome, Neu–Laxova syndrome, Young–Madders syndrome, oto-palato-digital syndrome type 2, Toriello–Carey syndrome, and Da Silva syndromes.<unk>  may be differentiated from Greig cephalopolysyndactyly syndrome by the presence of intracranial cysts.<unk>  may be suspected antenatally if a previous child is affected, as any subsequent child has a 25% chance of having<unk> . Obstetric ultrasonography or magnetic resonance imaging can reveal polydactyly and/or cerebral malformations from the 20th week of gestation. Chorionic villus sampling and molecular genetic testing can be performed to confirm whether mutations in disease-associated genes are present.<unk>  is an extremely rare disorder, with 34 cases described in the literature as of 2005.
Acrocallosal syndrome
Dorian Gray syndrome
Athetoid cerebral palsy
Skoptic syndrome
Robinow syndrome
Seaver Cassidy syndrome
Dyskinetic cerebral palsy
Ataxic cerebral palsy