| Selected syndromes commonly associated with omphalocele |
| Syndrome | Prominent findings |
| Schisis association | - Omphalocele
- Neural tube defect
- Oral cleft
- Diaphragmatic hernia
|
| Beckwith-Wiedemann syndrome | - Omphalocele
- Macroglossia
- Gigantism
|
| Pentalogy of Cantrell | - Omphalocele
- Lower sternum defect
- Anterior diaphragm defect
- Parietal pericardium defect
- Congenital heart anomalies
|
| OEIS complex | - Omphalocele
- Bladder exstrophy
- Imperforate anus
- Spinal malformation
|
| Donnai-Barrow syndrome | - Omphalocele
- Diaphragmatic defects
- Absence of corpus callosum
- Hypertelorism
- Myopia
- Sensorineural deafness
|
| Shprintzen-Goldberg omphalocele syndrome | - Omphalocele
- Mildly dysmorphic facies
- Scoliosis
- Learning disabilities
- Pharyngeal and laryngeal hypoplasia
|
| Selected syndromes sometimes associated with omphalocele |
| Syndrome | Prominent findings |
| Melnick-Needles syndrome | - Widely spaced and prominent eyes
- Severe micrognathia
- Ureteric obstruction
- Hypoplastic kidneys
- Bowing of long bones
- Positional deformities of the hands and feet
- Long digits
- Cervicothoracic kyphosis
- Thoracolumbar lordosis
- Ribbon-like ribs
- Thoracic hypoplasia
- Possibly omphalocele
|
| Carpenter syndrome | - Acrocephaly
- Syndactyly
- Polydactyly
- Congenital heart defects
- Mental retardation
- Hypogenitalism
- Cryptorchidism
- Obesity
- Umbilical hernia
- Bony abnormalities
- Possibly omphalocele
|
| Trisomy 13 | - Micro/anophthalmia
- Cleft lip and/or palate
- Postaxial polydactyly
- Possibly omphalocele
|
| Trisomy 18 | - Intrauterine growth restriction
- Hypertonia
- Prominent occiput
- Small mouth
- Micrognathia
- Pointy ears
- Short sternum
- Horseshoe kidney
- Flexed fingers with the index finger overlapping the third finger and the fifth finger overlapping the fourth finger
- Congenital heart disease
- Possibly omphalocele
|
| Trisomy 21 | - Facial dysmorphism
- Intellectual impairment
- Poor muscular tone
- Congenital heart disease
- Duodenal atresia or stenosis
- Possibly omphalocele
|
