Melnick-Needles syndrome

Melnick-Needles syndrome (MNS), also known as Melnick-Needles osteodysplasty, is a rare genetic skeletal dysplasia caused by gain-of-function mutations in the FLNA gene, which encodes the cytoskeletal protein filamin A. It belongs to a group of disorders known as otopalatodigital spectrum disorders. The condition predominantly affects females, as it is typically lethal in males during the prenatal or neonatal period. MNS is characterized by distinctive facial features including prominent eyes, full cheeks, micrognathia (small jaw), and a high forehead. Skeletal abnormalities are prominent and include bowing of the long bones, irregular ribbon-like ribs, sclerosis of the skull base, flared metaphyses, and short distal phalanges. Affected individuals may also have joint hypermobility, short stature, and a narrow thorax. The condition affects multiple body systems beyond the skeleton. Craniofacial abnormalities can include cleft palate and dental malocclusion. Ureters may be obstructed due to skeletal malformations, potentially leading to hydronephrosis and renal complications. Respiratory complications can arise from the narrow thorax and rib abnormalities. Hearing loss, both conductive and sensorineural, has been reported in some patients. There is currently no cure or disease-specific treatment for Melnick-Needles syndrome. Management is supportive and multidisciplinary, focusing on addressing individual symptoms. This may include orthopedic interventions for skeletal deformities, surgical correction of cleft palate, management of urological complications, hearing aids or surgical treatment for hearing loss, and respiratory support when needed. Regular monitoring by a team including geneticists, orthopedic surgeons, nephrologists, and audiologists is recommended. Genetic counseling is important for affected families.

Common questions about Melnick-Needles syndrome