Table 2

Syndromes with exomphalos as a frequent or occasional symptom

	Syndrome	Clinical features	Causation
Frequent symptom	BWS³	Anterior abdominal wall defects, macroglossia, pre- or postnatal overgrowth, ear crease or pits, facial naevus flammeus, hypoglycaemia, nephromegaly, hemihypertrophy	Sporadic, AD, uniparental isodisomy
	OEIS⁴	Omphalocele, exstrophy of the bladder, imperforate anus, spinal defect	Sporadic
	Shprintzen-omphalocele⁵	Omphalocele, pharynx and larynx hypoplasia, learning disability, dysmorphic facies, scoliosis	AD
	Omphalocele-cleft palate⁶	Omphalocele, posterior cleft palate, genital abnormalities	AR
	Simpson-Golabi-Behmel⁷	Omphalocele, pre- and postnatal overgrowth, postaxial polydactyly, hepatosplenomegaly, cystic kidney dysplasia, coarse facies, macroglossia	XLR
	Trisomy 13⁸	Holoprosencephaly, cleft lip and palate, polydactyly, scalp defects, rocker bottom feet	De novo or translocation
	Trisomy 18⁸	Clenched hand, short sternum, low arch dermal ridge patterning on fingertips	De novo
	Triploidy⁸	Lethality, syndactyly, body asymmetry, pigmentation abnormalities, facial dysmorphism	De novo
Occasional symptom	Marshall-Smith⁹	Increased length and bone age at birth, failure to thrive, mental retardation, facial dysmorphism, broad proximal and middle phalanges	Uncertain
	Elejalde10	Macrosomia, swollen globular body, short limbs, polydactyly, craniosynostosis, acrocephaly	AR
	Boomerang dysplasia11	Dwarfism with bowed limbs, characteristic facies	AR
	Beemer short rib12	Narrow thorax, cleft lip, cardiac defects, micropenis, renal cysts	AR
	Melnick-Needles13	Prominent eyes, bowing of long bones, ribbon-like ribs	XLR
	CHARGE14	Coloboma, heart defect, atresia choanae, growth deficiency, mental deficiency, genital hypoplasia, ears anomalies/deafness	Sporadic