Nevo syndrome

Nevo syndrome is an extremely rare genetic overgrowth disorder first described by Nevo et al. in 1974. It is characterized by excessive prenatal and postnatal growth, a distinctive facial appearance, and various skeletal and neurological abnormalities. Key clinical features include increased birth length and weight, accelerated linear growth, dolichocephaly (elongated skull), prominent forehead, long limbs, large hands and feet, hypotonia (decreased muscle tone), joint hyperlaxity, and motor developmental delay. Affected individuals may also exhibit kyphosis, wrist drop, edema of the hands and feet, and intellectual disability of variable severity. The condition shares significant clinical overlap with other overgrowth syndromes, particularly Weaver syndrome and Sotos syndrome, and some researchers have debated whether Nevo syndrome represents a distinct entity or is allelic to these conditions. Some cases initially diagnosed as Nevo syndrome have been found to carry mutations in the EZH2 gene, which is also associated with Weaver syndrome, raising the possibility that at least some cases of Nevo syndrome may be a variant of Weaver syndrome. There is no specific cure or targeted treatment for Nevo syndrome. Management is supportive and symptomatic, focusing on physical therapy for hypotonia and motor delays, orthopedic interventions for skeletal abnormalities, and educational support for intellectual disability. Regular monitoring of growth and development by a multidisciplinary team including geneticists, neurologists, and orthopedic specialists is recommended. Genetic counseling is important for affected families.

Common questions about Nevo syndrome