Frank-Ter Haar syndrome (DOID:0111789)
Alliance: disease page
Synonyms: autosomal recessive Melnick-Needles syndrome; Borrone dermatocardioskeletal syndrome; FTHS; megalocornea, multiple skeletal anomalies, and developmental delay; Ter Haar syndrome
Alt IDs: OMIM:249420, MESH:C537274, ORDO:137834, UMLS_CUI:C1855305
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.