Melnick-Needles syndrome (DOID:0111788)
Alliance: disease page
Synonyms: Melnick-Needles osteodysplasty; MNS; osteodysplasty of Melnick and Needles
Alt IDs: OMIM:309350, MESH:D010009, ORDO:1826, UMLS_CUI:C0025237
Definition: An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28.