What is Melnick Needles Syndrome

Melnick-Needles syndrome is a rare genetic disorder that affects the development of bones and other connective tissues in the body. It is characterized by distinctive facial features, skeletal abnormalities, and various other symptoms. This condition primarily affects males, although there have been a few reported cases in females.

Individuals with Melnick-Needles syndrome often have a prominent forehead, a sunken appearance of the middle of the face, a small jaw, and a prominent chin. Skeletal abnormalities may include abnormal curvature of the spine, abnormal fusion of certain bones in the spine, and unusually shaped or bowed long bones in the arms and legs.

Other symptoms may include hearing loss, respiratory difficulties, heart defects, and intellectual disability. The severity of symptoms can vary widely among affected individuals.

Melnick-Needles syndrome is caused by mutations in the FLNA gene, which provides instructions for making a protein called filamin A. This protein plays a crucial role in the organization and structure of cells. The inheritance pattern of this condition is X-linked dominant, meaning that a mutation in one copy of the gene in each cell is sufficient to cause the disorder.

Treatment for Melnick-Needles syndrome is focused on managing the symptoms and may involve a multidisciplinary approach, including orthopedic interventions, hearing aids, and supportive care.