Digitorenocerebral syndrome

Digitorenocerebral syndrome, also known as Eronen syndrome, is an extremely rare autosomal recessive condition characterized by a combination of digital (finger and toe), renal (kidney), and cerebral (brain) anomalies. The syndrome was first described in a small number of affected individuals and is notable for its multisystem involvement presenting at birth or early infancy. Key clinical features include digital anomalies such as hypoplastic (underdeveloped) or absent thumbs and other finger malformations, severe renal abnormalities including renal agenesis or dysplasia, and central nervous system malformations such as Dandy-Walker malformation, cerebellar hypoplasia, and other structural brain defects. Additional features may include growth retardation, craniofacial dysmorphism, and ocular abnormalities. The combination of these malformations can lead to significant morbidity, and the prognosis is often poor, particularly when severe renal and brain anomalies are present. There is currently no specific or curative treatment for digitorenocerebral syndrome. Management is supportive and symptomatic, focusing on addressing individual organ system involvement. This may include nephrology care for renal complications, neurodevelopmental support, and surgical interventions for digital or other structural anomalies when feasible. Genetic counseling is recommended for affected families.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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