Melnick-Needles syndrome

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

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.

Signs and symptoms

• Short stature
• Thoracic hypoplasia
• Gastroesophageal reflux
• Pulmonic regurgitation
• Increased size of nasopharyngeal adenoids
• Lumbar hyperlordosis
• Laryngomalacia
• Posteriorly rotated ears
• Highly arched eyebrow
• Coxa valga

Also known as: MNS; Melnick-Needles osteodysplasty; osteodysplasty of Melnick and Needles