Category: Syndromic anorectal malformation
- 22q11.2 deletion syndrome
- 46,XX disorder of sex development-anorectal anomalies syndrome
- 6q terminal deletion syndrome
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome
- Axenfeld-Rieger syndrome
- Axial mesodermal dysplasia spectrum
- BNAR syndrome
- Baller-Gerold syndrome
- Cat-eye syndrome
- Cataract-intellectual disability-anal atresia-urinary defects syndrome
- Caudal duplication
- Caudal regression-sirenomelia spectrum
- Cloacal exstrophy
- Currarino syndrome
- Distal monosomy 13q
- FG syndrome
- Fraser syndrome
- Goldberg-Shprintzen megacolon syndrome
- Hirschsprung disease-deafness-polydactyly syndrome
- Hirschsprung disease-ganglioneuroblastoma syndrome
- Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
- Hirschsprung disease-type D brachydactyly syndrome
- Johanson-Blizzard syndrome
- Kabuki syndrome
- LUMBAR syndrome
- Lowe-Kohn-Cohen syndrome
- Maternal uniparental disomy of chromosome 16
- Mayer-Rokitansky-Küster-Hauser syndrome type 2
- Microphthalmia with linear skin defects syndrome
- Monosomy 13q34
- Okihiro syndrome
- Opitz G/BBB syndrome
- Pallister-Hall syndrome
- Pallister-Killian mosaic syndrome
- Renpenning syndrome
- Ring chromosome 13 syndrome
- Short rib-polydactyly syndrome, Verma-Naumoff type
- Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome
- Syndactyly-telecanthus-anogenital and renal malformations syndrome
- Townes-Brocks Syndrome
- Trisomy 13
- Trisomy 18
- Ulnar-mammary syndrome
- VACTERL association
- VACTERL with hydrocephalus
- X-linked skeletal dysplasia-intellectual disability syndrome
- OrphaNet: ORPHA:117573
