Diagnosis is initiated by presentation of clinical features and confirmed by genetic testing. Symptoms can often be observed prenatally. Prenatal diagnosis is often used in families with a history of<unk> , as it is much more likely to occur. In particular, polymicrogyria, microcephaly, and hypoplastic corpus callosum have been suggested as key clinical indicators of<unk> . There are numerous genetic tests available for<unk> . While some are only limited to testing for<unk> , a number of these genetic tests also test for Marfan syndrome and other syndromes closely related to<unk> . Others test for cleft lip/cleft palate, connective tissues disorders, or other symptoms that can be indicative of<unk> .
Goldberg–Shprintzen syndrome
Schinzel–Giedion syndrome
Smith Martin Dodd syndrome
Shprintzen–Goldberg syndrome
Bardet–Biedl syndrome
Saethre–Chotzen syndrome
Pelger–Huët anomaly
Keppen–Lubinsky syndrome