arthrogryposis-renal dysfunction-cholestasis syndrome

Arthrogryposis-renal dysfunction-cholestasis syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

This syndrome is characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction, and neonatal cholestasis with low serum gamma-glutamyl transferase activity. The condition is classified as very rare, and there are currently no orphan drug designations under investigation.

Patients and caregivers should consider consulting with specialists experienced in rare diseases, particularly those familiar with syndromes involving arthrogryposis and renal dysfunction. Genetic counseling may also be beneficial to understand potential hereditary aspects. Connecting with rare disease registries and online patient communities can provide additional support and resources.