Condition | Features in common with VACTERL association | Features distinct from VACTERL association | Cause(s) | Reference(s) |
---|---|---|---|---|
Alagille syndrome | Vertebral anomalies, cardiac anomalies; may have renal anomalies | Bile duct paucity and cholestasis, ophthalmologic anomalies (especially posterior embryotoxon), neurological anomalies, characteristic facial appearance | Heterozygous mutations in JAG1, NOTCH2 | |
Baller-Gerold syndrome | Radial anomalies, may also include anal anomalies | Craniosynostosis, skin anomalies | Heterozygous mutations in RECQL4 | [33] |
CHARGE syndrome | Cardiac malformations, genitourinary anomalies; may also include TEF | Colobomata, choanal atresia, neurocognitive and growth impairment, ear anomalies, cranial nerve dysfunction, characteristic facial features | Heterozygous mutations in CHD7 | |
Currarino syndrome | Sacral malformations, ARM | Presacral mass | Heterozygous mutations/ deletions of HLXB9 | |
22q11.2 deletion syndrome (also known by other names, such as DiGeorge syndrome or velocardio-facial syndrome) | Cardiac malformations, renal anomalies, other VACTERL-type anomalies also reported | Hypocalcemia, palatal anomalies, learning difficulties, immune dysfunction, neuropsychiatric disturbances, characteristic facial features, | Deletion of one copy of chromosome 22q11.2 | [99] |
Fanconia anemia | Virtually all features of VACTERL association may occur; radial anomalies are considered an especially key feature | Hematologic anomalies, pigmentation anomalies | Recessive or X-linked mutations in multiple genes; typically detected by chromosomal breakage studies | |
Feingold syndrome | GI atresia, cardiac defects, renal anomalies | Brachymesophalangy, toe syndactyly, microcephaly, cognitive impairment, characteristic facial appearance, | Heterozygous mutations in MYCN | |
Fryns syndrome | GI malformations, cardiac defects, GU anomalies | Diaphragmatic defects, neurocognitive impairment, characteristic facial appearance, | No well-characterized unifying causes | [102] |
Holt-Oram syndrome | Cardiac malformations, limb malformations | Cardiac conduction disease (also reported in VACTERL association) | Heterozygous mutations in TBX5 | |
Müllerian duct aplasia, renal aplasia, and cervico-thoracic somite dysplasia (MURCS assoc-iation); also known as Mayer-Rokitansky- Küster-Hauser syndrome type II | Vertebral anomalies, renal anomalies, GU anomalies and anorectal malformations; may also have cardiac and limb anomalies | Syndactyly and hearing loss have been described | Unknown; likely heterogeneous | |
Oculo-auriculo-vertebral syndrome | Vertebral anomalies, cardiac abnormalities, limb abnormalities, urogenital anomalies | Ear anomalies (microtia), hemifacial microsomia, neurocognitive impairment, facial clefts (also described in patients with VACTERL association) | Unknown; likely heterogeneous | [106] |
Opitz G/BBB syndrome | Anal anomalies, heart defects, TEF, hypospadias | Hypertelorism, syndactyly | X-linked form: heterozygous/ hemizygous mutations in MID1; autosomal dominant form: some cases due to deletion 22q11.2 | |
Pallister-Hall syndrome | Imperforate anus, renal anomalies, limb anomalies (postaxial polydactyly should serve as a clue for the Pallister-Hall syndrome) | Hypothalamic hamartoma, bifid epiglottis (ranging to more severe types of clefts), nail hypoplasia | Heterozygous mutations in GLI3 | |
Townes-Brocks syndrome | Imperforate anus, thumb anomalies, renal anomalies, cardiac anomalies | Dysplastic ears, hearing loss | Heterozygous mutations in SALL1 | |
VACTERL-H | All core component features | Hydrocephalus | Heterozygous mutations in PTEN, heterozygous/ hemizygous mutations in ZIC3; X-linked and recessive forms have been described |