Frank-ter Haar syndrome

Frank Ter Haar syndrome (FTHS) is a rare skeletal dysplasia with classical features like megalocornea, finger flexion deformities, prominent coccyx and heart defects. The main characteristics are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, small chin, bowing of the long bones, and flexion deformity of the fingers. The most common underlying genetic defect in FTHS appears to be a mutation in the SH3PXD2B gene. Patients appeared to share many of the craniofacial and skeletal features normally associated with Melnick-Needles syndrome. However the autosomal recessive pattern of inheritance and congenital cardiac defects distinguished the syndrome as a separate entity.