Term Name: Melnick-Needles syndrome
Synonyms: Melnick-Needles osteodysplasty, MNS, osteodysplasty of Melnick and Needles
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.
Ontology: Human Disease [DOID:0111788]   ( DOID:0111788 )

Relationships
is a type of: otopalatodigital syndrome spectrum disorder X-linked monogenic disease