Syndactyly-telecanthus-anogenital and renal malformations syndrome

Syndactyly-telecanthus-anogenital and renal malformations syndrome (also known as STAR syndrome) is an extremely rare congenital malformation syndrome characterized by a distinctive combination of anomalies affecting multiple body systems. The name is an acronym derived from its cardinal features: Syndactyly (fusion of fingers or toes), Telecanthus (widely spaced inner corners of the eyes), Anogenital malformations, and Renal (kidney) malformations. Affected individuals typically present at birth with toe syndactyly (particularly cutaneous syndactyly of the second and third toes), facial dysmorphism including telecanthus, and various urogenital anomalies such as anteriorly placed anus, vaginal or uterine anomalies in females, and renal malformations including renal agenesis or ectopic kidneys. Additional features may include shawl scrotum or penoscrotal transposition in males. This syndrome has been reported in only a very small number of families in the medical literature, making it one of the rarest multiple congenital anomaly syndromes. The condition appears to follow an X-linked dominant inheritance pattern, and it has been associated with mutations in the FAM58A gene (also known as CCNQ), which encodes a cyclin family protein involved in cell cycle regulation. Because the condition is present from birth, diagnosis is typically made in the neonatal period based on the constellation of physical findings. Management is supportive and symptom-based, potentially involving surgical correction of syndactyly, monitoring and management of renal anomalies, and surgical intervention for anogenital malformations as needed. There is currently no specific or curative treatment for this syndrome. Long-term follow-up by a multidisciplinary team including geneticists, nephrologists, urologists, and orthopedic surgeons is recommended.

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

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