Melnick-Needles syndrome, also known as osteodysplasty of the tubular bones, is a rare genetic disorder characterized by various physical and skeletal abnormalities. It is considered an X-linked dominant condition, meaning it primarily affects males but can also be present in females.
Individuals with Melnick-Needles syndrome typically display distinct facial features, such as a prominent forehead, a flattened bridge of the nose, wide-set eyes, a prognathic jaw, and a small chin. These facial characteristics may change over time as the individual grows. Additionally, affected individuals often have abnormalities in their long bones, scoliosis, and other skeletal deformities, including prominent shoulder blades and broad, bowed thigh bones.
The syndrome can also affect other organ systems, leading to potential complications. Many individuals experience hearing loss due to malformation of the inner ear and middle ear structures. Respiratory difficulties may arise from small nasal passages or tracheal stenosis. In some cases, individuals with Melnick-Needles syndrome may have cardiac abnormalities, intellectual disabilities, and other developmental delays.
Melnick-Needles syndrome is caused by mutations in the FLNA gene, which provides instructions for producing a protein called filamin A. This protein is crucial for structuring and organizing the actin cytoskeleton, a network of protein filaments that gives cells their shape and allows them to move. Disruptions in this protein's function can impact bone development and lead to the characteristic features and complications associated with the syndrome.
Treatment for Melnick-Needles syndrome is primarily supportive and focuses on managing specific symptoms and complications. Multidisciplinary care involving orthopedic specialists, geneticists, audiologists, and other healthcare professionals can help individuals with this rare condition optimize their quality of life.
