Category: Syndromic urogenital tract malformation

Orphanet

• 48,XXXY syndrome
• 48,XYYY syndrome
• 49,XXXXY syndrome
• 8p23.1 microdeletion syndrome
• ARX-related encephalopathy-brain malformation spectrum
• Aarskog-Scott syndrome
• Abruzzo-Erickson syndrome
• Autosomal recessive faciodigitogenital syndrome
• Branchioskeletogenital syndrome
• CHARGE syndrome
• Caudal regression-sirenomelia spectrum
• Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
• Czeizel-Losonci syndrome
• Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
• Double uterus-hemivagina-renal agenesis syndrome
• Guttmacher syndrome
• Hypertelorism-hypospadias-polysyndactyly syndrome
• Hypospadias-intellectual disability, Goldblatt type syndrome
• Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital an
• Juberg-Marsidi syndrome
• Klinefelter syndrome
• Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
• Lethal hemolytic anemia-genital anomalies syndrome
• Lower limb malformation-hypospadias syndrome
• Myopathy-growth delay-intellectual disability-hypospadias syndrome
• Müllerian duct anomalies-limb anomalies syndrome
• Nephrosis-deafness-urinary tract-digital malformations syndrome
• Opitz G/BBB syndrome
• Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
• Schilbach-Rott syndrome
• Spina bifida-hypospadias syndrome
• Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome
• Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
• Turner syndrome

• OrphaNet: ORPHA:165707