Term Name:	Frank-Ter Haar syndrome
Synonyms:	autosomal recessive Melnick-Needles syndrome, Borrone dermatocardioskeletal syndrome, FTHS, megalocornea, multiple skeletal anomalies, and developmental delay, Ter Haar syndrome
Definition:	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.
Ontology:	Human Disease [DOID:0111789]   ( DOID:0111789 )