Expansion of the core features of VACTERL association to include genital anomalies

• Published in: American journal of medical genetics. Part A Vol. 194; no. 9; pp. e63587 - n/a
• Main Authors: Forero, Laura T., Henderson, Riley, Galarreta, Carolina, Swee, Steven, Bird, Lynne M.
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01-09-2024; Wiley Subscription Services, Inc
• Subjects: Adolescent; Adult; Anal Canal - abnormalities; Anal Canal - pathology; Anorectal; anorectal malformation; Anorectal Malformations - diagnosis; Anorectal Malformations - epidemiology; Anorectal Malformations - genetics; Anorectal Malformations - pathology; Child; Child, Preschool; Esophagus - abnormalities; Esophagus - pathology; Female; Females; genital anomaly; Genitalia - abnormalities; Genitalia - pathology; Heart Defects, Congenital - diagnosis; Heart Defects, Congenital - epidemiology; Heart Defects, Congenital - genetics; Heart Defects, Congenital - pathology; Humans; Infant; Kidney - abnormalities; Kidney - pathology; Limb Deformities, Congenital - diagnosis; Limb Deformities, Congenital - epidemiology; Limb Deformities, Congenital - genetics; Limb Deformities, Congenital - pathology; Male; Males; renal anomaly; Retrospective Studies; Spine - abnormalities; Spine - pathology; Trachea - abnormalities; Trachea - pathology; Urogenital Abnormalities - diagnosis; Urogenital Abnormalities - epidemiology; Urogenital Abnormalities - genetics; Urogenital Abnormalities - pathology; VACTERL association; VATER; Vertebrae; Young Adult; Young adults; genital anomaly; VATER; renal anomaly; anorectal malformation; VACTERL association
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.63587

Genital anomalies have been reported with VACTERL association but not considered a core feature. Acute and chronic complications stemming from unrecognized genital anomalies have been reported in adolescents and young adults with VACTERL association. We sought to determine the frequency and severity of genital anomalies in VACTERL patients and identify which core features were more frequently associated with genital anomalies. A retrospective chart review from January 2010 to October 2021 identified 211 patients with two or more core VACTERL features, 34% of whom had a genital anomaly. The majority of genital anomalies (83% of those in males and 90% in females) were classified as functionally significant (requiring surgical intervention or causing functional impairment). The frequency of genital anomalies in the VACTERL cohort was higher if anorectal malformations or renal anomalies were present in both males and females and if vertebral anomalies were present in females. Due to their functional significance, genital anomalies should be assessed in all patients with two or more core features of VACTERL association, especially in those with anorectal or renal anomalies. Most genital anomalies in males will be detected on physical examination but additional investigation is often needed to detect genital anomalies in females. The timing and type of investigation are subjects for future study.