Table 2

Syndromes with exomphalos as a frequent or occasional symptom

SyndromeClinical featuresCausation
Frequent symptomBWS3 Anterior abdominal wall defects, macroglossia, pre- or postnatal overgrowth, ear crease or pits, facial naevus flammeus, hypoglycaemia, nephromegaly, hemihypertrophySporadic, AD, uniparental isodisomy
OEIS4 Omphalocele, exstrophy of the bladder, imperforate anus, spinal defectSporadic
Shprintzen-omphalocele5 Omphalocele, pharynx and larynx hypoplasia, learning disability, dysmorphic facies, scoliosisAD
Omphalocele-cleft palate6 Omphalocele, posterior cleft palate, genital abnormalitiesAR
Simpson-Golabi-Behmel7 Omphalocele, pre- and postnatal overgrowth, postaxial polydactyly, hepatosplenomegaly, cystic kidney dysplasia, coarse facies, macroglossiaXLR
Trisomy 138 Holoprosencephaly, cleft lip and palate, polydactyly, scalp defects, rocker bottom feetDe novo or translocation
Trisomy 188 Clenched hand, short sternum, low arch dermal ridge patterning on fingertipsDe novo
Triploidy8 Lethality, syndactyly, body asymmetry, pigmentation abnormalities, facial dysmorphismDe novo
Occasional symptomMarshall-Smith9 Increased length and bone age at birth, failure to thrive, mental retardation, facial dysmorphism, broad proximal and middle phalangesUncertain
Elejalde10 Macrosomia, swollen globular body, short limbs, polydactyly, craniosynostosis, acrocephalyAR
Boomerang dysplasia11 Dwarfism with bowed limbs, characteristic faciesAR
Beemer short rib12 Narrow thorax, cleft lip, cardiac defects, micropenis, renal cystsAR
Melnick-Needles13 Prominent eyes, bowing of long bones, ribbon-like ribsXLR
CHARGE14 Coloboma, heart defect, atresia choanae, growth deficiency, mental deficiency, genital hypoplasia, ears anomalies/deafnessSporadic