By 1990, 65 patients had been reported in the literature, with no sex or ethnic preference notable. Some individuals present with minimal malformation; rarely patients have died during infancy as a result of severe central nervous system involvement or respiratory complications. Several syndromes are related to the<unk>  spectrum, but more information is required before undertaking such nosological delineation.
Freeman–Sheldon syndrome
Fryns-Aftimos syndrome
3-M syndrome
Smith–Fineman–Myers syndrome
CAMFAK syndrome
Berk–Tabatznik syndrome
STAR syndrome
McKittrick-Wheelock syndrome