IllnessAnorectal malformations, [non-]syndromic; differential diagnosis

NGS +

[Sanger]

Anorectal malformations comprise a broad spectrum, ranging from mild anal anomalies to complex cloacal malformations - 60% occur in the context of defined genetic syndromes or complex multiple congenital anomalies or in association with chromosomal aberrations; remaining 40% are isolated

• Alias: Anal atresia
• Alias: Non-syndromic familial congenital anorectal malformations
• Allelic: Alveolar capillary dysplasia with misalignment of pulmonary veins (FOXF1)
• Allelic: Baller-Gerold syndrome [craniosynostosis, radial aplasia] (RECQL4)
• Allelic: Congenital heart defects, nonsyndromic, 1, XL (ZIC3)
• Allelic: Deafness, AD 4A (MYH14)
• Allelic: Fanconi anemia, complementation group B (FANCB)
• Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
• Allelic: Heterotaxy, visceral, 1, XL (ZIC3)
• Allelic: Hypothalamic hamartomas, somatic (GLI3)
• Allelic: Lujan-Fryns syndrome [mental retardation, XL; marfanoid habitus] (MED12)
• Allelic: Mental retardation + microcephaly with pontine +cerebellar hypoplasia (CASK)
• Allelic: Mental retardation, with/-out nystagmus (CASK)
• Allelic: Ohdo syndrome, XL [blepharophimosis, mental retardation] (MED12)
• Allelic: Pallister-Hall syndrome (GLI3)
• Allelic: Peripheral neuropathy, myopathy, hoarseness + hearing loss (MYH14)
• Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
• Allelic: Polydactyly, preaxial, type IV (GLI3)
• Allelic: RAPADILINO syndrome [radial + patellar aplasia/hypoplasia] (RECQL4)
• Allelic: Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
• Allelic: Rothmund-Thomson syndrome, type 2 [poikiloderma, cong. bone defects, osteosarc.] (RECQL4)
• Anorectal malformation (CASK, CDX1, CDX2, FANCB, FOXF1, GLI3, MED12, MNX1, MYCN, MYH14, ZIC3)
• Bardet-Biedl syndrome 1 (BBS1)
• Coffin-Siris syndrome 4 (SMARCA4)
• Currarino syndrome (MNX1)
• Currarino syndrome [part. sacral agenesis, presacral mass, anorectal malformation] (MNX1)
• FG syndrome 4 (CASK)
• Fanconi anemia, complementation group C (FANCC)
• Feingold syndrome 1 (MYCN)
• Helsmoortel-van der Aa syndrome (ADNP)
• Intellectual developmental disorder, AD 70 (SETD2)
• Kabuki syndrome 2 (KDM6A)
• Luscan-Lumish syndrome (SETD2)
• Menke-Hennekam syndrome 1 (CREBBP)
• Menke-Hennekam syndrome 2 (EP300)
• Opitz GBBB syndrome, type I [hypertelorism, esophageal abnormality, hypospadias] (MID1)
• Opitz-Kaveggia [FG] syndrome [ment. retard., macrocephal, imperfor. anus, corp. call. agen.] (MED12)
• Pallister-Hall syndrome (GLI3)
• Persistent cloaca (CDX2)
• Rabin-Pappas syndrome (SETD2)
• Rubinstein-Taybi syndrome 1 (CREBBP)
• Rubinstein-Taybi syndrome 2 (EP300)
• STAR syndrome: toe Syndactyly, Telecanthus, Anogenital + Renal malformations (CCNQ syn. FAM58A)
• Townes-Brocks branchiootorenal-like syndrome (SALL1)
• Townes-Brocks syndrome 1 (SALL1)
• VACTERL association with hydrocephalus (FANCB)
• VACTERL association, XL (ZIC3)
• VATER/VACTERL, Alveolar capillary dysplasia with misalignment of pulmonary veins (FOXF1)