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Omphalocele

DA: 20

Developmental anomaly information

Definition: An omphalocele is a defect of the anterior abdominal wall (failure to correct the physiologic midgut herniation which should have closed by the end of the 11th week pc), and is covered by a surrounding "membrane" (peritoneum and amnion); the umbilical cord inserts into the sac. Omphaloceles may result from an arrest of progression of the amnioectodermal junction toward the umblicus. Intra-amniotic mesoderm can not migrate through this amniotic tissue, preventing its maturation into mature body wall. Omphalocele typically contain bowel and/or liver.

Synonyms:

Exomphalos
Amniocele

Developmental anomaly parent: (empty)	Topology: Human body > Abdomen
System: integument & skin	Developmental anomaly category: Dysraphism

Case records MDB1, MDB9, MDB70, MDB119, MDB94, MDB100, MDB109, MDB155, MDB176, MDB184, MDB249, MDB264, MDB277, MDB325, MDB359, MDB420, MDB487, MDB22

Links

Humpath: 4126

Observed in MDB cases

In malformative combinations :

Pentalogy of Cantrell

Observed in combinaisons (MDB)

Observed in malformative diseases (MDB)

Associated genes in profile

Associated genes in malformative diseases

Associated chromosomal diseases

Associated signaling pathways

Associated developmental anomalies

Here is the list of developmental anomalies associated with this developmental anomaly, based on the cases' information :

Pulmonary hypoplasia 5.68% (10/176 anomalies), in cases MDB9, MDB100, MDB109, MDB155, MDB176, MDB277, MDB325, MDB359, MDB487, MDB22
Low-set ears 4.55% (8/176 anomalies), in cases MDB9, MDB70, MDB100, MDB109, MDB249, MDB325, MDB359, MDB22
Single umblical artery (SUA)-Isolated 3.98% (7/176 anomalies), in cases MDB9, MDB70, MDB155, MDB325, MDB359, MDB420, MDB487
Facial dysmorphism 3.41% (6/176 anomalies), in cases MDB9, MDB70, MDB100, MDB109, MDB359, MDB487
Placenta hypoplasia 3.41% (6/176 anomalies), in cases MDB119, MDB100, MDB184, MDB249, MDB359, MDB22
Intrauterine growth retardation, symmetric 2.84% (5/176 anomalies), in cases MDB249, MDB277, MDB359, MDB420, MDB22
Retroplacental hemorrhage 1.7% (3/176 anomalies), in cases MDB70, MDB184, MDB277
Ectopia cordis 1.7% (3/176 anomalies), in cases MDB119, MDB119, MDB277
Overlapping fingers 1.7% (3/176 anomalies), in cases MDB100, MDB155, MDB22
Retrognathia 1.7% (3/176 anomalies), in cases MDB100, MDB359, MDB487
Tracheoesophageal fistula (TEF), and esophageal atresia, Type C 1.7% (3/176 anomalies), in cases MDB155, MDB22, MDB22
Imperforate Anus 1.14% (2/176 anomalies), in cases MDB1, MDB325
Ascites, fetal 1.14% (2/176 anomalies), in cases MDB9, MDB109
Scoliosis, congenital 1.14% (2/176 anomalies), in cases MDB9, MDB119
Macrocephaly 1.14% (2/176 anomalies), in cases MDB70, MDB100
Hypertelorism 1.14% (2/176 anomalies), in cases MDB94, MDB100
Fingers amputation 1.14% (2/176 anomalies), in cases MDB94, MDB277
Cubital pterygium, bilateral 1.14% (2/176 anomalies), in cases MDB94, MDB325
Neck edema 1.14% (2/176 anomalies), in cases MDB94, MDB109
Right bilobate lung 1.14% (2/176 anomalies), in cases MDB94, MDB109
Cleft palate with cleft lip,bilateral, complete 1.14% (2/176 anomalies), in cases MDB94, MDB277
Flattened nose 1.14% (2/176 anomalies), in cases MDB100, MDB325
Diaphragmatic hernia, congenital 1.14% (2/176 anomalies), in cases MDB100, MDB277
Ventricular septal defect, membranous 1.14% (2/176 anomalies), in cases MDB109, MDB420
Microretrognathia 1.14% (2/176 anomalies), in cases MDB109, MDB325
Aberrant right subclavian artery 1.14% (2/176 anomalies), in cases MDB155, MDB22
Triangular face 1.14% (2/176 anomalies), in cases MDB359, MDB22
Lobulated, fused and horseshoe kidney 1.14% (2/176 anomalies), in cases MDB359, MDB487
Trilobate lung, bilateral 1.14% (2/176 anomalies), in cases MDB420, MDB487
Bladder exstrophy 0.57% (1/176 anomalies), in case MDB1
Butterfly vertebrae, D8 level 0.57% (1/176 anomalies), in case MDB1
Congenital pouch colon 0.57% (1/176 anomalies), in case MDB1
Rectovesical fistula 0.57% (1/176 anomalies), in case MDB1
Low nasal bridge 0.57% (1/176 anomalies), in case MDB9
Micrognathia 0.57% (1/176 anomalies), in case MDB9
Varus deviation of fingers 0.57% (1/176 anomalies), in case MDB9
Frontal bossing 0.57% (1/176 anomalies), in case MDB70
Lymphedema of the neck 0.57% (1/176 anomalies), in case MDB70
Absence of diaphragm, left 0.57% (1/176 anomalies), in case MDB119
Parietal pericardium, absence of 0.57% (1/176 anomalies), in case MDB119
Talipes equinovarus, bilateral 0.57% (1/176 anomalies), in case MDB119
Defects of the lower part of the sternum 0.57% (1/176 anomalies), in case MDB119
Pulmonary lobation anomalies 0.57% (1/176 anomalies), in case MDB119
Syndactyly, simple (webbed), fingers 0.57% (1/176 anomalies), in case MDB94
Anophthalmos, bilateral 0.57% (1/176 anomalies), in case MDB94
Transverse amputation of limb 0.57% (1/176 anomalies), in case MDB94
Toes amputation 0.57% (1/176 anomalies), in case MDB94
Syndactyly of the toes, complex, bilateral 0.57% (1/176 anomalies), in case MDB94
overlapping skull bones 0.57% (1/176 anomalies), in case MDB94
Thorax deformation,fetal 0.57% (1/176 anomalies), in case MDB94
Open bite mouth, fetal 0.57% (1/176 anomalies), in case MDB94
Hydrocephalus 0.57% (1/176 anomalies), in case MDB100
Intestinal malrotation 0.57% (1/176 anomalies), in case MDB100
Renal focal cystic dilatation of collecting tubules 0.57% (1/176 anomalies), in case MDB100
Broad nasal bridge 0.57% (1/176 anomalies), in case MDB100
Right atrium Enlargement 0.57% (1/176 anomalies), in case MDB109
Nonimmune hydrops fetalis (NIHF) 0.57% (1/176 anomalies), in case MDB109
Cleft palate with cleft lip (CLP), median 0.57% (1/176 anomalies), in case MDB109
Hexadactyly, postaxial 0.57% (1/176 anomalies), in case MDB109
Nephromegaly, bilateral 0.57% (1/176 anomalies), in case MDB109
Thymic hypoplasia 0.57% (1/176 anomalies), in case MDB109
Splenomegaly, congenital 0.57% (1/176 anomalies), in case MDB109
Patent Foramen Ovale 0.57% (1/176 anomalies), in case MDB109
Right ventricle dilatation 0.57% (1/176 anomalies), in case MDB109
Tricuspid valve dysplasia 0.57% (1/176 anomalies), in case MDB109
Gracile ribs 0.57% (1/176 anomalies), in case MDB109
Abnormal formation of the cerebellar gyri 0.57% (1/176 anomalies), in case MDB155
Gothic palate 0.57% (1/176 anomalies), in case MDB155
Badly-hemmed ears 0.57% (1/176 anomalies), in case MDB155
Polydactyly,of the hand, postaxial 0.57% (1/176 anomalies), in case MDB155
Purkinje cell ectopia in the cerebellum 0.57% (1/176 anomalies), in case MDB155
Olfactory nerve, absence of, unilateral 0.57% (1/176 anomalies), in case MDB155
Olfactory nerve hypoplasia,unilateral 0.57% (1/176 anomalies), in case MDB155
Cleft palate, bilateral 0.57% (1/176 anomalies), in case MDB249
Polydactyly of the hand, preaxial 0.57% (1/176 anomalies), in case MDB249
Syndactyly of the fingers, complex, unilateral 0.57% (1/176 anomalies), in case MDB249
Arthrogryposis,lower limbs 0.57% (1/176 anomalies), in case MDB249
Cleft palate with cleft lip, unilateral, complete 0.57% (1/176 anomalies), in case MDB264
Semilobar holoprosencephaly 0.57% (1/176 anomalies), in case MDB277
Prominent infraorbital creases 0.57% (1/176 anomalies), in case MDB277
Exencephaly 0.57% (1/176 anomalies), in case MDB277
Enophtalmus 0.57% (1/176 anomalies), in case MDB277
Congenital Muscular Torticollis, Fetal 0.57% (1/176 anomalies), in case MDB277
Placental amniotic bands 0.57% (1/176 anomalies), in case MDB277
Flexion contracture of lower limbs 0.57% (1/176 anomalies), in case MDB325
Popliteal pterygium 0.57% (1/176 anomalies), in case MDB325
Scoliosis, thoracic, left 0.57% (1/176 anomalies), in case MDB325
Multicystic renal dysplasia, unilateral 0.57% (1/176 anomalies), in case MDB325
Micromelia, lower limbs 0.57% (1/176 anomalies), in case MDB325
flexion contracture of the forearm 0.57% (1/176 anomalies), in case MDB325
Rib fusions 0.57% (1/176 anomalies), in case MDB325
Renal agenesis, unilateral 0.57% (1/176 anomalies), in case MDB325
Potter deformity sequence 0.57% (1/176 anomalies), in case MDB325
Large ear, fetal 0.57% (1/176 anomalies), in case MDB325
Dorsiflexion of foot, unilateral 0.57% (1/176 anomalies), in case MDB325
Scalloping of the frontal bones 0.57% (1/176 anomalies), in case MDB325
Talipes equinovarus,unilateral 0.57% (1/176 anomalies), in case MDB325
Hypogenesis of the Cerebellar Vermis 0.57% (1/176 anomalies), in case MDB359
Malformed ear 0.57% (1/176 anomalies), in case MDB359
Ureteral duplication, complete, unilateral 0.57% (1/176 anomalies), in case MDB487
Posteriorly inclined and low-positioned ears 0.57% (1/176 anomalies), in case MDB487
Prominent and pointed nose 0.57% (1/176 anomalies), in case MDB487
Large anterior fontanelle 0.57% (1/176 anomalies), in case MDB487
Clindodactyly of 5th finger, bilateral 0.57% (1/176 anomalies), in case MDB487
Narrow thorax 0.57% (1/176 anomalies), in case MDB487
Short neck 0.57% (1/176 anomalies), in case MDB487
Adrenal hypoplasia, fetal 0.57% (1/176 anomalies), in case MDB487
Clindodactyly of 5th finger, unilateral 0.57% (1/176 anomalies), in case MDB22
Microcephaly 0.57% (1/176 anomalies), in case MDB22
Persistent left superior vena cava 0.57% (1/176 anomalies), in case MDB22
Absence of innominate (brachiocephalic) vein 0.57% (1/176 anomalies), in case MDB22
Ventricular septal defect, muscular 0.57% (1/176 anomalies), in case MDB22

Terminology and coding

	WHO ICD-10: Q79.2

References

No reference related to Omphalocele is available at the moment.

Last modified: 2008-12-17 17:13:00 by farideh

Created: 2008-02-15 00:00:00 by phsaw

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