Frank-Ter Haar syndrome

An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental de

An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1.

Signs and symptoms

• Hypotonia
• Coarse facial features
• Abnormally large globe
• Cafe-au-lait spot
• Hypertelorism
• Buphthalmos
• Kyphoscoliosis
• Downslanted palpebral fissures
• Hypoplasia of the corpus callosum
• Full cheeks

Also known as: Borrone dermatocardioskeletal syndrome; FTHS; Ter Haar syndrome; autosomal recessive Melnick-Needles syndrome; megalocornea, multiple skeletal anomalies, and developmental delay