Melhem-Fahl syndrome

Melhem-Fahl syndrome is a very rare condition that affects the development of the spine, specifically causing abnormal curves or malformations of the vertebrae (the bones that make up the backbone). It belongs to a group of conditions called congenital scoliosis or vertebral segmentation defects, meaning the spine does not form correctly before birth. The backbone may have fused vertebrae, missing vertebrae, or vertebrae that are shaped incorrectly, which can cause the spine to curve sideways or in other unusual directions. People with Melhem-Fahl syndrome may notice a visible curve or twist in their back, uneven shoulders or hips, and sometimes back pain. Because the spine is close to the spinal cord and nerves, some individuals may also experience nerve-related symptoms if the abnormal bones press on nearby structures. The condition is present from birth, though it may not always be noticed right away. Treatment focuses on managing the spinal abnormality and preventing it from getting worse. Options range from careful monitoring and physical therapy to bracing or surgery, depending on how severe the curvature is. A team of specialists including orthopedic surgeons and geneticists typically guides care. There is currently no cure, but many people with this condition can live full lives with appropriate support and treatment.

Bring these to your next appointment

• Q1.How severe is my (or my child's) spinal abnormality, and is it likely to get worse over time?,What type of genetic testing should we have, and should other family members be tested?,At what point would you recommend surgery, and what does that involve?,Are there any physical activities we should avoid to protect the spine?,What warning signs should prompt us to seek emergency care?,How often do we need follow-up imaging, and what are we watching for?,Are there any clinical trials or research studies we could participate in?

Common questions about Melhem-Fahl syndrome