NPHP3-related Meckel-like syndrome

NPHP3-related Meckel-like syndrome (also known as Meckel-like syndrome or renal-hepatic-pancreatic dysplasia) is a severe, autosomal recessive ciliopathy caused by mutations in the NPHP3 (nephrocystin-3) gene. This condition belongs to a spectrum of disorders related to dysfunction of primary cilia, which are cellular structures critical for signaling during embryonic development. The syndrome shares clinical features with classic Meckel syndrome (Meckel-Gruber syndrome) but is genetically distinct. The disease primarily affects the kidneys, liver, and central nervous system. Key clinical features include cystic kidney dysplasia, hepatic fibrosis and ductal plate malformation of the liver, and central nervous system abnormalities that may include occipital encephalocele. Additional features can include situs inversus or other laterality defects, pancreatic cysts or dysplasia, and skeletal anomalies. The condition typically presents prenatally or at birth, and affected infants often have a very severe clinical course with significant morbidity and mortality in the neonatal period. There is currently no curative treatment for NPHP3-related Meckel-like syndrome. Management is supportive and symptomatic, focusing on the specific organ systems affected. Prenatal diagnosis through ultrasound and genetic testing is possible for families with known mutations. Genetic counseling is recommended for affected families to discuss recurrence risks and reproductive options.

Common questions about NPHP3-related Meckel-like syndrome