Non-syndromic uro-recto-genital tract malformations refer to a group of congenital anomalies affecting the development of the urinary and/or reproductive systems that are not associated with any known genetic syndromes. These malformations can involve various parts of the urinary and/or reproductive tract, such as the kidneys, ureters, bladder, urethra, or genitals, and can present with a range of symptoms and severity levels. Diagnosis of non-syndromic uro-recto-genital tract malformations may involve imaging studies, genetic testing, and other diagnostic tests, and treatment may involve medical management, surgical interventions, or a combination of both. The cause of many non-syndromic uro-recto-genital tract malformations is not well understood, but may involve a combination of genetic and environmental factors. You can find out which of our Healthcare Providers have expertise in this area on our Workstreams & Expertise page. Dr Giovanni Mosiello is head of the paediatric Neuro-Urology and Surgery for Continence Division of the Bambino Gesù Children’s Hospital in Rome, Italy, which involves several academic activities with different universities in Rome (Sapienza, Campus BioMedico, Tor Vergata, UniCamillus) and the University of Genova. He is the Director of a training-host centre for Pediatric Urology recognised by the European Society of Pediatric Urology (ESPU), the European Association of Urology (EAU), and the Societe International d’Urologie (SIU). He has been a surgical tutor for paediatric urology in many countries worldwide. His clinical activity and research are focused on surgical reconstruction of the lower urinary tract in spina bifida, anorectal malformation, urogenital sinus, bladder exstrophy, posterior urethral valves, and for treatment of obstructive and refluxing megaureter, stones and hypospadias. Her special interest in Pediatric Urology is reconstructive surgery in neurogenic bladder dysfunction. The European Association of Urology, European Society for Paediatric Urology, ERN eUROGEN, ERN ITHACA, ERN ERKNet, and the International Federation for Spina Bifida and Hydrocephalus have developed joint Clinical Practice Guidelines for Spinal Dysraphism in Children & Adolescents. You can access these from our guidelines page. ERN ITHACA has developed patient information on spina bifida, which is available from our patient information page. The International Federation for Spina Bifida and Hydrocephalus was founded in 1979 by people with Spina Bifida and Hydrocephalus and their families. Its aim is to promote and protect the human rights of people with Spina Bifida and Hydrocephalus in accordance with the UN Convention on the Rights of Persons with Disabilities. ➡️ International Federation for Spina Bifida and HydrocephalusNon-Syndromic Uro-Recto-Genital Tract Malformation (ERN eUROGEN EA 1.4)
Expertise Area Coordinator: Giovanni Mosiello
Dr Giovanni Mosiello is the Workstream Lead for ERN eUROGEN’s Workstream 1 (rare congenital uro-recto-genital anomalies) and the Expertise Area Coordinator for EA 1.4, non-syndromic uro-recto-genital malformation. He is also the Chair of the cross-ERN (ERN EUROGEN, ERN ITHACA, and ERN ERKNet) Working Group on spina bifida and other dysraphisms (SBoD).Vice-EAC: Kate Abrahamsson
Prof. Kate Abrahamsson was the head of the Pediatric Surgery department at The Queen Silvia Children´s Hospital, Sahlgrenska University Hospital in Gothenburg, Sweden, from 2012 until 2022, when she became the head of the entire Children’s Hospital. She has been a Professor of Pediatric Surgery since 2015. Guidelines
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Non-Syndromic Uro-Recto-Genital Tract Malformation
