Search for a rare disease
Frank-Ter Haar syndrome
Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.
Less than 30 cases have been reported worldwide.
Protruding ears, prominent coccyx bone and congenital heart defects are frequently present.
Autosomal recessive inheritance is suggested.