Frank Ter Haar syndrome

Disease Overview

Frank-Ter Haar syndrome is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features (unusually large cornea, flattened back of the head, wide fontanels, prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin). Less than 30 cases have been reported worldwide. Protruding ears, prominent coccyx bone (or tail bone), and congenital heart defects are also frequently present. This condition is caused by mutations in the SH3PXD2B gene and is thought to be inherited in an autosomal recessive fashion.[4120][4121]

Synonyms

• Ter Haar syndrome
• Autosomal recessive Melnick-Needles syndrome (formerly)
• Megalocornea, multiple skeletal anomalies, and developmental delay