Frank-Ter Haar Syndrome Watchlist (log in to enable) Retrieved 2021-01-23 Source Orphanet Trials — Genes SH3PXD2B Drugs — Interested in hearing about new therapies? Registered! A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.