Non-Syndromic Urogenital Tract Malformation

EA 1.4 Non-Syndromic Urogenital Tract Malformation

Non-syndromic urogenital 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 urogenital 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 urogenital tract malformations is not well understood, but may involve a combination of genetic and environmental factors.

Expertise Area Coordinator and Vice-EAC

Expertise Area Coordinator:

Giovanni Mosiello

Vice-EAC:

Kate Abrahamsson

Conditions and Codes

Spina bifida: ORPHAcode 823, 268369, 268377, 268748 / ICD-10 Codes Q05.0, Q05.1, Q05.2, Q05.3, Q05.4, Q05.5, Q05.6, Q05.7, Q05.8, Q05.9
Isolated partial vaginal agenesis: ORPHAcode 96269
Septate vagina: ORPHAcode 180154
Vaginal atresia: ORPHAcode 65681
Congenital primary megaureter: ORPHAcode 617
Congenital urachal anomaly: ORPHAcode 435743
Duplication of urethra: ORPHAcode 237
Congenital agenesis of the scrotum: ORPHAcode 495879
Congenital bilateral absence of vas deferens: ORPHAcode 48
Diphallia: ORPHAcode 227
Idiopathic isolated micropenis: ORPHAcode 95707
Penile agenesis: ORPHAcode 49
Penoscrotal transposition: ORPHAcode 2842
Fetal lower urinary tract obstruction: ORPHAcode 435365
Neurogenic bladder dysfunction (Hinman syndrome & Ochoa syndrome): ORPHAcodes 84085, 2704
Caudal regression syndrome: ORPHAcode 3027

Healthcare Providers

AT Linz Ordensklinikum, BE Antwerp UZ, BE Leuven UZ, DE Munich LMUK, DE Leipzig UK, DE Mannheim UK, DE Regensburg UK, DE Tübingen UK, DE Ulm UK, DK Aarhus DNU, DK Copenhagen Rigshospitalet, ES Barcelona Sant Joan, ES Barcelona Vall d’Hebron, ES Madrid La Paz, ES Barcelona Fundació Puigvert, FI Helsinki HUS, FR Paris Necker, FR Paris Robert-Debré, IT Bergamo Papa Giovanni XXIII, IT Padua AOU, IT Turin AOU, IT Milan Policlinico, IT Rome Bambino Gesu, LT Vilnius SK, LV Riga BKUS, NL Rotterdam Erasmus, NL Nijmegen Radboudumc, NL Utrecht UMC, PL Gdansk MUG, PL Krakow USD, SE Stockholm Karolinska, SE Gothenburg Sahlgrenska, SE Lund SUS, SE Uppsala Akademiska

Patient Information

Patient Journey

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Spina Bifida Patient Journey

Additional Resources

Caudal Regression Syndrome. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.
Congenital Bilateral Aplasia of Vas Deferens. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.
Congenital giant megaureter. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.
Diphallia. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.
Duplication of Urethra. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.
International Federation for Spina Bifida and Hydrocephalus. Promotion and protection of the human rights of people with Spina Bifida and Hydrocephalus in accordance with the UN Convention on the Rights of Persons with Disabilities.
Ochoa syndrome. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.
Penis agenesis. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.
Penoscrotal transposition. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.
Spina Bifida. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.
Vagina, absence of. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.