Table 2

Phenotypic overlap with the VACTERL association: disorders of known genetic aetiology

Name	OMIM	Locus	Gene name	Major clinical features	Features occurring in syndrome which are not part of VACTERL	VACTERL components absent from syndrome	References
Feingold	164280	2p23-p24	N-MYC	Microcephaly,	Microcephaly,	Vertebral anomalies;	van Bokhoven et al,³
				gastro-intestinal atresias,	learning	limb malformations are	Celli et al²²
				cardiac malformations,	difficulties,	not of VACTERL type
				renal malformations	facial
					dysmorphism
CHARGE	214800	8q12	CHD7	Coloboma, heart defect,	Coloboma,	Anal atresia, limb.	Vissers et al⁴
				atresia choanae, retarded	ear and	anomalies
				growth, genital anomaly,	genital
				ear anomaly	anomalies
Fanconi	607139	16q24.3	FANCA	Susceptibility to cancer,	Susceptibility	None	Tischkowitz and
	300515	Xp22.31	FANCB (FAAP95)	short stature, congenital	to cancer,		Hodgson,³⁶
	227645	9q22.3	FANCC	malformations	café au lait		Meetei et al,³⁷
	605724	13q12.3	FANCD1 (BRCA2)		patches,		Levran et al⁶²
	227646	3p25.3	FANCD2		microcephaly,
	600901	6p21-22	FANCE		growth
	603467	11p15	FANCF		restriction
	602956	9p13	FANCG
	605882	17q22	FANCJ (BRIP1)
22q11	188400	22q11	TBX1	Cleft palate, heart	Cleft palate,	Vertebral anomalies,	Ryan et al⁶³
deletion				defect, thymic	hypocalcaemia,	anal atresia, limb
syndrome				abnormality, facial	thymic	malformations
				dysmorphism,	abnormality,
				hypocalcaemia	facial
					dysmorphism
Townes-	107480	16q21.1	SALL1	External ear anomalies,	External ear	OA/TOF, cardiac	Powell and
Brocks				preaxial polydactyly,	anomalies,	malformations,	Michaelis⁶⁴
				triphalangeal thumbs,	hearing loss	vertebral
				imperforate anus, renal		anomalies
				malformations
Pallister-	146510	7p14.1	GLI3	Hypothalamic	Hypothalamic	OA/TOF, vertebral	Johnston et al⁶⁵
Hall				hamartoma,	hamartoma,	anomalies
				polydactyly, cardiac	craniofacial
				and renal defects	dysmorphism