Autosomal dominant inheritance is the most likely, usually by de novo mutation. This syndrome has been associated with mutations in the ARID1B gene. Mutations in SOX11 are associated to this syndrome. A second gene that has been associated with this syndrome is the AT-rich interaction domain 2 (ARID2) gene. The diagnosis is generally based on the presence of major and at least one minor clinical sign and can be confirmed by molecular genetic testing of the causative genes. Recent studies revealed that fifth finger nail/distal phalanx hypoplasia or aplasia is not a mandatory finding. Typically, lab work will be done to rule out other conditions and genetic testing will also be performed to get the official diagnosis.
Coffin–Siris syndrome
Maroteaux–Lamy syndrome
Dunnigan familial partial lipodystrophy
Beckwith–Wiedemann syndrome
Laurence–Moon syndrome
Griscelli syndrome type 2
Qazi–Markouizos syndrome
Klüver–Bucy syndrome