🔗

Mappings

MONDO

MONDO:0019015 omphalocele

MONDO:0019015 (omphalocele) is the disease term for this entry; it lists Orphanet:660, NCIT:C98997, and ICD-10 Q79.2 cross-references.

◆

Subtypes

5

Isolated (non-syndromic) omphalocele

Omphalocele occurring without associated major malformations, chromosomal abnormality, or recognized syndrome. Isolated cases have the most favorable prognosis, with high survival in the absence of chromosomal defects.

Syndromic / chromosomal omphalocele

Omphalocele occurring as part of a recognized genetic syndrome or chromosomal abnormality. Includes aneuploidies (trisomy 13, 18, 21) and monogenic/imprinting syndromes. Carries substantially worse prognosis, driven by the associated anomalies and chromosomal/syndromic diagnosis.

Beckwith-Wiedemann syndrome-associated omphalocele

Omphalocele as a cardinal feature of Beckwith-Wiedemann syndrome, an overgrowth/imprinting disorder of chromosome 11p15.5. Counseling and follow-up differ because of the BWS tumor-predisposition and overgrowth phenotype.

Pentalogy of Cantrell (thoraco-abdominal omphalocele)

A rare midline defect complex combining a (supraumbilical) omphalocele with defects of the lower sternum, anterior diaphragm, diaphragmatic pericardium, and intracardiac anomalies. Reflects a defect of cephalic/anterior body-fold closure.

OEIS complex (cloacal exstrophy)

Omphalocele-Exstrophy of the cloaca-Imperforate anus-Spinal defects complex, a caudal body-fold closure defect in which omphalocele co-occurs with cloacal exstrophy, imperforate anus, and spinal/vertebral anomalies.

⚙

Pathophysiology

3

Ventral Body Wall Closure Failure

The primary developmental lesion in omphalocele is failure to complete normal ventral body wall formation at the umbilical region. During normal embryogenesis the lateral, cephalic, and caudal body folds migrate ventrally and fuse at the umbilical ring; failure of this morphogenetic process leaves a central defect through which abdominal viscera herniate into the base of the umbilical cord, covered by a membranous (peritoneum/Wharton's jelly/amnion) sac. This distinguishes omphalocele from gastroschisis (a paraumbilical defect without a sac).

Body wall mesenchymal cell CL:0000134 Body wall fibroblast CL:0000057

Embryonic body morphogenesis (ventral body wall closure) GO:0010172 ⚠ ABNORMAL Mesenchymal cell migration (body-fold migration) GO:0090497 ↓ DECREASED Umbilical cord morphogenesis GO:0036304 ⚠ ABNORMAL

Downstream

Midgut Herniation and Viscero-Abdominal Disproportion Failure of ventral body wall closure leaves an open umbilical-ring defect through which abdominal viscera herniate into the membrane-covered sac.

Show evidence (2 references)

PMID:38021990 SUPPORT Human Clinical

"Omphalocele refers to the herniation of abdominal contents through a defect in the abdominal wall at the umbilicus with or without the presence of a sac."

Review defining omphalocele as herniation of abdominal contents through a ventral abdominal wall defect at the umbilicus, the anatomic consequence of failed ventral body wall closure.

PMID:37726736 SUPPORT Human Clinical

"Patients with omphalocele, a midline abdominal wall defect at the umbilical cord base, have a low survival rate."

Confirms the midline umbilical-base location of the abdominal wall defect that defines omphalocele.

Midgut Herniation and Viscero-Abdominal Disproportion

Abdominal viscera - intestine and, in large/giant defects, the liver - herniate through the body wall defect into the sac. In normal development a physiologic midgut herniation occurs at ~6-10 weeks' gestation and returns to the abdominal cavity; persistence/failure of this return contributes to the pathologic herniation. The resulting reduction in intra-abdominal domain produces viscero-abdominal disproportion, which both complicates surgical reduction (risk of abdominal compartment syndrome) and, in giant defects, constrains thoraco-abdominal development.

Hepatocyte (herniated liver) CL:0000182

Midgut development GO:0007494 ⚠ ABNORMAL

Downstream

Pulmonary Hypoplasia and Pulmonary Hypertension Viscero-abdominal disproportion in large/giant defects reduces the intra-abdominal domain and constrains thoraco-abdominal development, restricting fetal lung expansion and pulmonary vascular growth.

Show evidence (2 references)

PMID:38021990 PARTIAL Human Clinical

"Omphalocele refers to the herniation of abdominal contents through a defect in the abdominal wall at the umbilicus with or without the presence of a sac."

Supports herniation of abdominal contents (midgut, and in large defects liver) through the umbilical defect; the abstract does not separately quantify viscero-abdominal disproportion.

PMID:40150018 SUPPORT Human Clinical

"giant omphaloceles are frequently linked to lung hypoplasia, as reduced intra-abdominal space restricts fetal lung expansion"

Supports that reduced intra-abdominal space (viscero-abdominal disproportion) in giant omphalocele restricts fetal development.

Pulmonary Hypoplasia and Pulmonary Hypertension

In large/giant omphalocele the reduced intra-abdominal domain and abnormal thoraco-abdominal dynamics constrain fetal lung expansion, producing pulmonary hypoplasia with impaired pulmonary vascular development. This contributes to elevated pulmonary vascular resistance and pulmonary hypertension, a major driver of neonatal respiratory morbidity and mortality, and a key consideration when planning closure (avoiding increases in intra-abdominal pressure that worsen ventilation).

Pulmonary artery endothelial cell CL:1001568 Pulmonary arterial smooth muscle cell CL:0002591

Lung development GO:0030324 ↓ DECREASED Pulmonary vasculature development GO:0001944 ⚠ ABNORMAL

Show evidence (2 references)

PMID:40150018 SUPPORT Human Clinical

"Among its most significant complications, pulmonary hypoplasia (PH) and pulmonary hypertension (PPH) have been shown to negatively impact neonatal prognosis. These conditions result from impaired pulmonary vascular development, leading to respiratory distress and hypoxemia."

Directly supports pulmonary hypoplasia and pulmonary hypertension arising from impaired pulmonary vascular development as major complications.

PMID:40150018 SUPPORT Human Clinical

"giant omphaloceles are frequently linked to lung hypoplasia, as reduced intra-abdominal space restricts fetal lung expansion, leading to structural lung abnormalities and increased pulmonary vascular resistance."

Supports the mechanistic chain from reduced intra-abdominal space to lung hypoplasia and increased pulmonary vascular resistance.

⬡

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.

●

Phenotypes

7

Cardiovascular 3

Congenital heart defects Abnormal heart morphology HP:0001627

Show evidence (1 reference)

PMID:37189937 SUPPORT Human Clinical

"in patients with omphalocele, cardiac anomalies were most identified (n = 15, 37.5%)"

Supports congenital heart defects as the most common associated anomaly in omphalocele, present in 37.5% of the cohort.

Ventricular septal defect Ventricular septal defect HP:0001629

Show evidence (1 reference)

PMID:34392395 SUPPORT Human Clinical

"About 62% of the cases had associated malformations and/or genetic disorders; most common was ventricular septal defect."

Supports ventricular septal defect as the most common associated malformation in a national cohort.

Pulmonary hypertension Pulmonary arterial hypertension HP:0002092

Show evidence (1 reference)

PMID:40150018 SUPPORT Human Clinical

"Severe respiratory insufficiency, particularly due to pulmonary hypoplasia and pulmonary hypertension, significantly increases neonatal morbidity and mortality."

Supports pulmonary hypertension as a contributor to neonatal morbidity and mortality.

Digestive 1

Feeding difficulties Feeding difficulties HP:0011968

Show evidence (1 reference)

PMID:38376641 SUPPORT Human Clinical

"The average time taken to reach full feeds was 1 week; only one patient required parenteral nutrition."

A case series of exomphalos major tracks time to full feeds, reflecting feeding difficulty as a clinically relevant sequela.

Respiratory 2

Pulmonary hypoplasia Pulmonary hypoplasia HP:0002089

Show evidence (1 reference)

PMID:40150018 SUPPORT Human Clinical

"Among its most significant complications, pulmonary hypoplasia (PH) and pulmonary hypertension (PPH) have been shown to negatively impact neonatal prognosis."

Supports pulmonary hypoplasia as a significant complication.

Respiratory insufficiency Respiratory insufficiency HP:0002093

Show evidence (1 reference)

PMID:40150018 SUPPORT Human Clinical

"Severe respiratory insufficiency, particularly due to pulmonary hypoplasia and pulmonary hypertension, significantly increases neonatal morbidity and mortality."

Supports severe respiratory insufficiency as a major morbidity.

Other 1

Omphalocele (ventral abdominal wall defect) Omphalocele HP:0001539

Onset: CONGENITAL

Show evidence (1 reference)

PMID:38021990 SUPPORT Human Clinical

"Omphalocele refers to the herniation of abdominal contents through a defect in the abdominal wall at the umbilicus with or without the presence of a sac."

Defines the core omphalocele phenotype.

🧬

Genetic Associations

3

Chromosomal aneuploidy (trisomy 13, 18, 21)

Chromosomal

Show evidence (1 reference)

PMID:34392395 SUPPORT Human Clinical

"About 62% of the cases had associated malformations and/or genetic disorders; most common was ventricular septal defect."

Supports the high proportion of omphalocele cases with associated genetic disorders, including chromosomal abnormalities.

Associated chromosomal abnormalities (population estimate)

Chromosomal

Show evidence (1 reference)

PMID:32131131 SUPPORT Human Clinical

"most commonly chromosomal abnormalities (9.3%), heart defects (6.3%), central nervous system anomalies (3.0%)"

Supports chromosomal abnormalities as the most common associated anomaly in a population-based omphalocele cohort.

Monogenic variants in selected non-isolated cases

Show evidence (1 reference)

PMID:37726736 SUPPORT Human Clinical

"Six nonisolated cases had normal CMA results and conventional karyotype tests, and further WES examination revealed one pathogenic variant and two suspected pathogenic variants."

Supports a monogenic contribution detectable by WES in selected non-isolated omphalocele cases with normal karyotype/CMA.

💊

Medical Actions

6

Primary surgical closure

Action: surgical procedure MAXO:0000004

Definitive early operative reduction of herniated viscera and closure of the abdominal wall defect. Best suited to small omphaloceles or cases without major viscero-abdominal disproportion; urgent reduction can dangerously raise intra-abdominal pressure and precipitate abdominal compartment syndrome.

Show evidence (1 reference)

PMID:40389219 SUPPORT Human Clinical

"Giant omphalocele is appropriately defined as viscero-abdominal disproportion preventing primary closure."

The EUPSA consensus defines giant omphalocele by viscero-abdominal disproportion that precludes primary closure, indicating primary closure is the approach for non-giant defects.

Staged / traction-assisted closure

Action: surgical procedure MAXO:0000004

Staged reduction (e.g., silo) or vertical traction-assisted staged closure is used when primary closure is unsafe because of a large defect, liver herniation, or marked viscero-abdominal disproportion. A prospective device series achieved complete fascial closure in all 16 patients (10 giant omphalocele, 6 gastroschisis) with no abdominal compartment syndrome.

Show evidence (1 reference)

PMID:38960901 SUPPORT Human Clinical

"Complete fascial closure was achieved after a median time of 7 days (range 4-22) in GOC and 5 days (range 4-11) in GS."

Supports traction-assisted staged closure achieving complete fascial closure in giant omphalocele and gastroschisis.

Conservative "paint and wait" management

Action: topical pharmacotherapy MAXO:0001573

Non-operative topical epithelialization of the intact sac, recommended when anatomical constraints or high surgical risk preclude primary closure (especially giant omphalocele with liver exteriorization and/or pulmonary hypoplasia/hypertension). Common painting agents include povidone-iodine and silver sulfadiazine. Later definitive ventral hernia repair is often needed.

Show evidence (1 reference)

PMID:40389219 SUPPORT Human Clinical

"the "paint and wait" approach is recommended when anatomical constraints or high surgical risk preclude primary closure. Common painting agents include povidone-iodine and silver sulfadiazine"

EUPSA consensus recommends paint-and-wait conservative topical management when primary closure is precluded.

Awake graduated compression dressing

Action: supportive care MAXO:0000950

A bedside, awake gradual compression dressing technique for exomphalos major that reduces sac contents without general anaesthetic or respiratory compromise and permits simultaneous early enteral feeding.

Show evidence (1 reference)

PMID:38376641 SUPPORT Human Clinical

"This case series describes a successful compression dressing technique that reduces sac content without the need for general anaesthetic or respiratory compromise, whereby simultaneous enteral feeding is tolerated."

Supports awake graduated compression dressing as a conservative bedside reduction strategy for exomphalos major.

Prenatal diagnosis and genetic testing

Action: prenatal examination MAXO:0000528

Prenatal ultrasound is the principal diagnostic modality and supports classification into isolated versus non-isolated omphalocele, guiding genetic testing (karyotype + chromosomal microarray, with WES escalation) and counseling.

Show evidence (1 reference)

PMID:37726736 SUPPORT Human Clinical

"Routine karyotyping with CMA testing should be provided for fetuses with omphalocele. WES is an option if karyotype and CMA tests are normal."

Supports prenatal genetic testing workflow (karyotype + CMA, then WES) for prenatally diagnosed omphalocele.

Genetic counseling

Action: Genetic Counseling NCIT:C15240

Genetic counseling addresses the high rate of associated chromosomal abnormalities and syndromes (including Beckwith-Wiedemann syndrome) and their prognostic and recurrence implications.

Show evidence (1 reference)

PMID:39576336 SUPPORT Human Clinical

"Over one-half (53.7%) presented with one or more major malformations, and an additional 17.0% were diagnosed with a syndrome."

The high burden of co-occurring malformations and syndromes supports the role of genetic counseling.

{ }

Source YAML

click to show

name: Omphalocele
creation_date: "2026-06-15T00:00:00Z"
description: >-
  Omphalocele (exomphalos) is a congenital midline ventral abdominal wall defect
  at the base of the umbilical cord in which abdominal viscera herniate outside
  the abdomen, typically protected by a membranous sac composed of peritoneum,
  Wharton's jelly, and amnion. It arises from a developmental defect of ventral
  body wall formation, with persistence of the normal physiologic midgut
  herniation (which occurs at roughly 6-10 weeks' gestation and normally returns
  to the abdomen). Defects are commonly classified as small (no liver herniation)
  versus large/giant (liver herniation with viscero-abdominal disproportion).
  Omphalocele is etiologically heterogeneous: many cases are sporadic, but a
  substantial subset is associated with aneuploidy (trisomy 13, 18, 21),
  chromosomal rearrangements, and genetic syndromes (notably
  Beckwith-Wiedemann syndrome). Associated malformations - especially congenital
  heart defects - and chromosomal/syndromic diagnoses are the principal
  determinants of prognosis, rather than the abdominal wall defect alone.
category: Congenital
disease_term:
  preferred_term: Omphalocele
  term:
    id: MONDO:0019015
    label: omphalocele
synonyms:
- Exomphalos
- Congenital omphalocele
- Exomphalos major
- Giant omphalocele
parents:
- Abdominal wall malformation
mappings:
  mondo_mappings:
  - term:
      id: MONDO:0019015
      label: omphalocele
    mapping_predicate: skos:exactMatch
    mapping_source: MONDO
    mapping_justification: >-
      MONDO:0019015 (omphalocele) is the disease term for this entry; it lists
      Orphanet:660, NCIT:C98997, and ICD-10 Q79.2 cross-references.

has_subtypes:
- name: Isolated
  display_name: Isolated (non-syndromic) omphalocele
  description: >-
    Omphalocele occurring without associated major malformations, chromosomal
    abnormality, or recognized syndrome. Isolated cases have the most favorable
    prognosis, with high survival in the absence of chromosomal defects.
- name: Syndromic
  display_name: Syndromic / chromosomal omphalocele
  description: >-
    Omphalocele occurring as part of a recognized genetic syndrome or
    chromosomal abnormality. Includes aneuploidies (trisomy 13, 18, 21) and
    monogenic/imprinting syndromes. Carries substantially worse prognosis,
    driven by the associated anomalies and chromosomal/syndromic diagnosis.
- name: BWS-associated
  display_name: Beckwith-Wiedemann syndrome-associated omphalocele
  description: >-
    Omphalocele as a cardinal feature of Beckwith-Wiedemann syndrome, an
    overgrowth/imprinting disorder of chromosome 11p15.5. Counseling and
    follow-up differ because of the BWS tumor-predisposition and overgrowth
    phenotype.
- name: Pentalogy of Cantrell
  display_name: Pentalogy of Cantrell (thoraco-abdominal omphalocele)
  description: >-
    A rare midline defect complex combining a (supraumbilical) omphalocele with
    defects of the lower sternum, anterior diaphragm, diaphragmatic pericardium,
    and intracardiac anomalies. Reflects a defect of cephalic/anterior body-fold
    closure.
- name: OEIS
  display_name: OEIS complex (cloacal exstrophy)
  description: >-
    Omphalocele-Exstrophy of the cloaca-Imperforate anus-Spinal defects complex,
    a caudal body-fold closure defect in which omphalocele co-occurs with
    cloacal exstrophy, imperforate anus, and spinal/vertebral anomalies.

pathophysiology:
- name: Ventral Body Wall Closure Failure
  description: >-
    The primary developmental lesion in omphalocele is failure to complete
    normal ventral body wall formation at the umbilical region. During normal
    embryogenesis the lateral, cephalic, and caudal body folds migrate ventrally
    and fuse at the umbilical ring; failure of this morphogenetic process leaves
    a central defect through which abdominal viscera herniate into the base of
    the umbilical cord, covered by a membranous (peritoneum/Wharton's
    jelly/amnion) sac. This distinguishes omphalocele from gastroschisis (a
    paraumbilical defect without a sac).
  cell_types:
  - preferred_term: Body wall mesenchymal cell
    term:
      id: CL:0000134
      label: mesenchymal stem cell
  - preferred_term: Body wall fibroblast
    term:
      id: CL:0000057
      label: fibroblast
  biological_processes:
  - preferred_term: Embryonic body morphogenesis (ventral body wall closure)
    term:
      id: GO:0010172
      label: embryonic body morphogenesis
    modifier: ABNORMAL
  - preferred_term: Mesenchymal cell migration (body-fold migration)
    term:
      id: GO:0090497
      label: mesenchymal cell migration
    modifier: DECREASED
  - preferred_term: Umbilical cord morphogenesis
    term:
      id: GO:0036304
      label: umbilical cord morphogenesis
    modifier: ABNORMAL
  evidence:
  - reference: PMID:38021990
    reference_title: "Enhancing Omphalocele Care: Navigating Complications and Innovative Treatment Approaches."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Omphalocele refers to the herniation of abdominal contents through a defect in the abdominal wall at the umbilicus with or without the presence of a sac."
    explanation: >-
      Review defining omphalocele as herniation of abdominal contents through a
      ventral abdominal wall defect at the umbilicus, the anatomic consequence
      of failed ventral body wall closure.
  - reference: PMID:37726736
    reference_title: "Ultrasonographic characteristics, genetic features, and maternal and fetal outcomes in fetuses with omphalocele in China: a single tertiary center study."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Patients with omphalocele, a midline abdominal wall defect at the umbilical cord base, have a low survival rate."
    explanation: >-
      Confirms the midline umbilical-base location of the abdominal wall defect
      that defines omphalocele.
  downstream:
  - target: Midgut Herniation and Viscero-Abdominal Disproportion
    description: >-
      Failure of ventral body wall closure leaves an open umbilical-ring defect
      through which abdominal viscera herniate into the membrane-covered sac.
- name: Midgut Herniation and Viscero-Abdominal Disproportion
  description: >-
    Abdominal viscera - intestine and, in large/giant defects, the liver -
    herniate through the body wall defect into the sac. In normal development a
    physiologic midgut herniation occurs at ~6-10 weeks' gestation and returns
    to the abdominal cavity; persistence/failure of this return contributes to
    the pathologic herniation. The resulting reduction in intra-abdominal domain
    produces viscero-abdominal disproportion, which both complicates surgical
    reduction (risk of abdominal compartment syndrome) and, in giant defects,
    constrains thoraco-abdominal development.
  cell_types:
  - preferred_term: Hepatocyte (herniated liver)
    term:
      id: CL:0000182
      label: hepatocyte
  biological_processes:
  - preferred_term: Midgut development
    term:
      id: GO:0007494
      label: midgut development
    modifier: ABNORMAL
  evidence:
  - reference: PMID:38021990
    reference_title: "Enhancing Omphalocele Care: Navigating Complications and Innovative Treatment Approaches."
    supports: PARTIAL
    evidence_source: HUMAN_CLINICAL
    snippet: "Omphalocele refers to the herniation of abdominal contents through a defect in the abdominal wall at the umbilicus with or without the presence of a sac."
    explanation: >-
      Supports herniation of abdominal contents (midgut, and in large defects
      liver) through the umbilical defect; the abstract does not separately
      quantify viscero-abdominal disproportion.
  - reference: PMID:40150018
    reference_title: "Omphalocele and Associated Anomalies: Exploring Pulmonary Development and Genetic Correlations-A Literature Review."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "giant omphaloceles are frequently linked to lung hypoplasia, as reduced intra-abdominal space restricts fetal lung expansion"
    explanation: >-
      Supports that reduced intra-abdominal space (viscero-abdominal
      disproportion) in giant omphalocele restricts fetal development.
  downstream:
  - target: Pulmonary Hypoplasia and Pulmonary Hypertension
    description: >-
      Viscero-abdominal disproportion in large/giant defects reduces the
      intra-abdominal domain and constrains thoraco-abdominal development,
      restricting fetal lung expansion and pulmonary vascular growth.
- name: Pulmonary Hypoplasia and Pulmonary Hypertension
  description: >-
    In large/giant omphalocele the reduced intra-abdominal domain and abnormal
    thoraco-abdominal dynamics constrain fetal lung expansion, producing
    pulmonary hypoplasia with impaired pulmonary vascular development. This
    contributes to elevated pulmonary vascular resistance and pulmonary
    hypertension, a major driver of neonatal respiratory morbidity and
    mortality, and a key consideration when planning closure (avoiding
    increases in intra-abdominal pressure that worsen ventilation).
  cell_types:
  - preferred_term: Pulmonary artery endothelial cell
    term:
      id: CL:1001568
      label: pulmonary artery endothelial cell
  - preferred_term: Pulmonary arterial smooth muscle cell
    term:
      id: CL:0002591
      label: smooth muscle cell of the pulmonary artery
  biological_processes:
  - preferred_term: Lung development
    term:
      id: GO:0030324
      label: lung development
    modifier: DECREASED
  - preferred_term: Pulmonary vasculature development
    term:
      id: GO:0001944
      label: vasculature development
    modifier: ABNORMAL
  evidence:
  - reference: PMID:40150018
    reference_title: "Omphalocele and Associated Anomalies: Exploring Pulmonary Development and Genetic Correlations-A Literature Review."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Among its most significant complications, pulmonary hypoplasia (PH) and pulmonary hypertension (PPH) have been shown to negatively impact neonatal prognosis. These conditions result from impaired pulmonary vascular development, leading to respiratory distress and hypoxemia."
    explanation: >-
      Directly supports pulmonary hypoplasia and pulmonary hypertension arising
      from impaired pulmonary vascular development as major complications.
  - reference: PMID:40150018
    reference_title: "Omphalocele and Associated Anomalies: Exploring Pulmonary Development and Genetic Correlations-A Literature Review."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "giant omphaloceles are frequently linked to lung hypoplasia, as reduced intra-abdominal space restricts fetal lung expansion, leading to structural lung abnormalities and increased pulmonary vascular resistance."
    explanation: >-
      Supports the mechanistic chain from reduced intra-abdominal space to lung
      hypoplasia and increased pulmonary vascular resistance.

phenotypes:
- category: Physical
  name: Omphalocele (ventral abdominal wall defect)
  description: >-
    Core defining phenotype: a midline abdominal wall defect at the umbilicus
    with sac-covered herniation of abdominal viscera.
  phenotype_term:
    preferred_term: Omphalocele
    term:
      id: HP:0001539
      label: Omphalocele
    onset:
      onset_category: CONGENITAL
  evidence:
  - reference: PMID:38021990
    reference_title: "Enhancing Omphalocele Care: Navigating Complications and Innovative Treatment Approaches."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Omphalocele refers to the herniation of abdominal contents through a defect in the abdominal wall at the umbilicus with or without the presence of a sac."
    explanation: Defines the core omphalocele phenotype.
- category: Physical
  name: Congenital heart defects
  description: >-
    Cardiac anomalies are among the most frequent associated malformations in
    omphalocele and are an important prognostic determinant. In one postnatal
    cohort, cardiac anomalies were identified in 37.5% of omphalocele patients.
  phenotype_term:
    preferred_term: Abnormal heart morphology
    term:
      id: HP:0001627
      label: Abnormal heart morphology
  evidence:
  - reference: PMID:37189937
    reference_title: "Additional Anomalies in Children with Gastroschisis and Omphalocele: A Retrospective Cohort Study."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "in patients with omphalocele, cardiac anomalies were most identified (n = 15, 37.5%)"
    explanation: >-
      Supports congenital heart defects as the most common associated anomaly in
      omphalocele, present in 37.5% of the cohort.
- category: Physical
  name: Ventricular septal defect
  description: >-
    Ventricular septal defect was the single most common associated
    malformation in the Swedish national omphalocele cohort.
  phenotype_term:
    preferred_term: Ventricular septal defect
    term:
      id: HP:0001629
      label: Ventricular septal defect
  evidence:
  - reference: PMID:34392395
    reference_title: "Omphalocele: national current birth prevalence and survival."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "About 62% of the cases had associated malformations and/or genetic disorders; most common was ventricular septal defect."
    explanation: >-
      Supports ventricular septal defect as the most common associated
      malformation in a national cohort.
- category: Physical
  name: Pulmonary hypoplasia
  description: >-
    Pulmonary hypoplasia is an important complication, especially in giant
    omphalocele, and is linked to worse neonatal respiratory outcomes.
  phenotype_term:
    preferred_term: Pulmonary hypoplasia
    term:
      id: HP:0002089
      label: Pulmonary hypoplasia
  evidence:
  - reference: PMID:40150018
    reference_title: "Omphalocele and Associated Anomalies: Exploring Pulmonary Development and Genetic Correlations-A Literature Review."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Among its most significant complications, pulmonary hypoplasia (PH) and pulmonary hypertension (PPH) have been shown to negatively impact neonatal prognosis."
    explanation: Supports pulmonary hypoplasia as a significant complication.
- category: Physical
  name: Pulmonary hypertension
  description: >-
    Pulmonary hypertension occurs in infants with giant omphalocele and
    contributes to respiratory morbidity and mortality.
  phenotype_term:
    preferred_term: Pulmonary hypertension
    term:
      id: HP:0002092
      label: Pulmonary arterial hypertension
  evidence:
  - reference: PMID:40150018
    reference_title: "Omphalocele and Associated Anomalies: Exploring Pulmonary Development and Genetic Correlations-A Literature Review."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Severe respiratory insufficiency, particularly due to pulmonary hypoplasia and pulmonary hypertension, significantly increases neonatal morbidity and mortality."
    explanation: >-
      Supports pulmonary hypertension as a contributor to neonatal morbidity and
      mortality.
- category: Physical
  name: Respiratory insufficiency
  description: >-
    Severe respiratory insufficiency is a major morbidity in giant omphalocele,
    particularly with pulmonary hypoplasia/hypertension.
  phenotype_term:
    preferred_term: Respiratory insufficiency
    term:
      id: HP:0002093
      label: Respiratory insufficiency
  evidence:
  - reference: PMID:40150018
    reference_title: "Omphalocele and Associated Anomalies: Exploring Pulmonary Development and Genetic Correlations-A Literature Review."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Severe respiratory insufficiency, particularly due to pulmonary hypoplasia and pulmonary hypertension, significantly increases neonatal morbidity and mortality."
    explanation: Supports severe respiratory insufficiency as a major morbidity.
- category: Physical
  name: Feeding difficulties
  description: >-
    Feeding difficulty is a recognized sequela, particularly in giant
    omphalocele; management studies track time to full enteral feeds.
  phenotype_term:
    preferred_term: Feeding difficulties
    term:
      id: HP:0011968
      label: Feeding difficulties
  evidence:
  - reference: PMID:38376641
    reference_title: "A case series of successfully managing exomphalos major with awake graduated compression dressing and early enteral feeding."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The average time taken to reach full feeds was 1 week; only one patient required parenteral nutrition."
    explanation: >-
      A case series of exomphalos major tracks time to full feeds, reflecting
      feeding difficulty as a clinically relevant sequela.

genetic:
- name: Chromosomal aneuploidy (trisomy 13, 18, 21)
  inheritance:
  - name: Chromosomal
  features: >-
    Omphalocele is frequently associated with chromosomal aneuploidy, most
    commonly trisomy 13, trisomy 18, and trisomy 21. Across population cohorts,
    the chromosomal-abnormality subgroup carries markedly elevated mortality;
    in the Swedish national cohort about 62% of cases had associated
    malformations and/or genetic disorders.
  subtype: Syndromic
  evidence:
  - reference: PMID:34392395
    reference_title: "Omphalocele: national current birth prevalence and survival."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "About 62% of the cases had associated malformations and/or genetic disorders; most common was ventricular septal defect."
    explanation: >-
      Supports the high proportion of omphalocele cases with associated genetic
      disorders, including chromosomal abnormalities.
- name: Associated chromosomal abnormalities (population estimate)
  inheritance:
  - name: Chromosomal
  features: >-
    In a Finnish population-based study, chromosomal abnormalities were the most
    common associated anomaly (9.3%), and 1-year survival was far lower for
    neonates with chromosomal defects (17%) than for isolated cases (80%).
  evidence:
  - reference: PMID:32131131
    reference_title: "Omphalocele in Finland from 1993 to 2014: Trends, Prevalence, Mortality, and Associated Malformations-A Population-Based Study."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "most commonly chromosomal abnormalities (9.3%), heart defects (6.3%), central nervous system anomalies (3.0%)"
    explanation: >-
      Supports chromosomal abnormalities as the most common associated anomaly
      in a population-based omphalocele cohort.
- name: Monogenic variants in selected non-isolated cases
  features: >-
    When prenatal karyotype and chromosomal microarray are normal, whole exome
    sequencing can identify monogenic variants in selected non-isolated cases. In
    a Chinese prenatal cohort, WES of six karyotype/CMA-normal non-isolated cases
    revealed one pathogenic and two suspected pathogenic variants.
  subtype: Syndromic
  evidence:
  - reference: PMID:37726736
    reference_title: "Ultrasonographic characteristics, genetic features, and maternal and fetal outcomes in fetuses with omphalocele in China: a single tertiary center study."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Six nonisolated cases had normal CMA results and conventional karyotype tests, and further WES examination revealed one pathogenic variant and two suspected pathogenic variants."
    explanation: >-
      Supports a monogenic contribution detectable by WES in selected
      non-isolated omphalocele cases with normal karyotype/CMA.

prevalence:
- population: Danish live births (1997-2021)
  measure_type: BIRTH_PREVALENCE
  prevalence_class: BAND_1_9_PER_100000
  rate_per_100000: 9.8
  percentage: "0.0098"
  notes: >-
    Danish nationwide live-birth register study: omphalocele birth prevalence of
    0.98 per 10,000 infants (95% CI 0.83-1.15). Over half (53.7%) had one or more
    major malformations and an additional 17.0% had a diagnosed syndrome.
  evidence:
  - reference: PMID:39576336
    reference_title: "Omphalocele prevalence and co-occurring malformations: a nationwide register-based study of Danish live births in 1997-2021."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Among 1,498,685 live births, 147 infants with omphalocele were identified, yielding a combined and stable prevalence (per 10,000 infants) of 0.98 (95% CI 0.83-1.15). Over one-half (53.7%) presented with one or more major malformations, and an additional 17.0% were diagnosed with a syndrome."
    explanation: >-
      Provides nationwide live-birth prevalence and the proportion of cases with
      co-occurring major malformations and syndromes.
- population: Finnish births (1993-2014, including terminations)
  notes: >-
    Finnish population-based register study including terminations: total
    prevalence 4.71 per 10,000 births, birth prevalence 1.96 per 10,000, with
    55% of pregnancies terminated.
  evidence:
  - reference: PMID:32131131
    reference_title: "Omphalocele in Finland from 1993 to 2014: Trends, Prevalence, Mortality, and Associated Malformations-A Population-Based Study."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Birth prevalence in Finland was 1.96 per 10,000 births with no consistent trend over time. However, total prevalence was much higher (4.71/10,000) because more than half of these families chose option for the termination of pregnancy."
    explanation: >-
      Provides total and birth prevalence including terminations, and the high
      termination rate.

progression:
- phase: Neonatal outcome (chromosome/anomaly dependent)
  notes: >-
    Omphalocele is congenital and frequently diagnosed prenatally by ultrasound.
    Prognosis is driven primarily by associated anomalies and chromosomal/
    syndromic diagnoses rather than the abdominal wall defect alone; in the
    absence of chromosomal defects survival is reasonably good. In the Finnish
    cohort, 1-year survival was 80% for isolated omphalocele versus 17% for
    neonates with chromosomal defects.
  evidence:
  - reference: PMID:32131131
    reference_title: "Omphalocele in Finland from 1993 to 2014: Trends, Prevalence, Mortality, and Associated Malformations-A Population-Based Study."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Total 1-year survival rates for isolated omphalocele, cases with multiple anomalies and neonates with chromosomal defects were 80, 88, and 17%, respectively."
    explanation: >-
      Quantifies the large survival difference between isolated and
      chromosomally abnormal omphalocele.
  - reference: PMID:32131131
    reference_title: "Omphalocele in Finland from 1993 to 2014: Trends, Prevalence, Mortality, and Associated Malformations-A Population-Based Study."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "In the absence of chromosomal defects, survival is reasonably good."
    explanation: >-
      Supports good survival when chromosomal defects are absent.

treatments:
- name: Primary surgical closure
  description: >-
    Definitive early operative reduction of herniated viscera and closure of the
    abdominal wall defect. Best suited to small omphaloceles or cases without
    major viscero-abdominal disproportion; urgent reduction can dangerously raise
    intra-abdominal pressure and precipitate abdominal compartment syndrome.
  treatment_term:
    preferred_term: surgical procedure
    term:
      id: MAXO:0000004
      label: surgical procedure
  evidence:
  - reference: PMID:40389219
    reference_title: "European Paediatric Surgeons' Association Consensus Statement on the Management of Giant Omphalocele."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Giant omphalocele is appropriately defined as viscero-abdominal disproportion preventing primary closure."
    explanation: >-
      The EUPSA consensus defines giant omphalocele by viscero-abdominal
      disproportion that precludes primary closure, indicating primary closure
      is the approach for non-giant defects.
- name: Staged / traction-assisted closure
  description: >-
    Staged reduction (e.g., silo) or vertical traction-assisted staged closure
    is used when primary closure is unsafe because of a large defect, liver
    herniation, or marked viscero-abdominal disproportion. A prospective device
    series achieved complete fascial closure in all 16 patients (10 giant
    omphalocele, 6 gastroschisis) with no abdominal compartment syndrome.
  treatment_term:
    preferred_term: surgical procedure
    term:
      id: MAXO:0000004
      label: surgical procedure
  evidence:
  - reference: PMID:38960901
    reference_title: "Use of a new vertical traction device for early traction-assisted staged closure of congenital abdominal wall defects: a prospective series of 16 patients."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Complete fascial closure was achieved after a median time of 7 days (range 4-22) in GOC and 5 days (range 4-11) in GS."
    explanation: >-
      Supports traction-assisted staged closure achieving complete fascial
      closure in giant omphalocele and gastroschisis.
- name: Conservative "paint and wait" management
  description: >-
    Non-operative topical epithelialization of the intact sac, recommended when
    anatomical constraints or high surgical risk preclude primary closure
    (especially giant omphalocele with liver exteriorization and/or pulmonary
    hypoplasia/hypertension). Common painting agents include povidone-iodine and
    silver sulfadiazine. Later definitive ventral hernia repair is often needed.
  treatment_term:
    preferred_term: topical pharmacotherapy
    term:
      id: MAXO:0001573
      label: topical pharmacotherapy
  evidence:
  - reference: PMID:40389219
    reference_title: "European Paediatric Surgeons' Association Consensus Statement on the Management of Giant Omphalocele."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "the \"paint and wait\" approach is recommended when anatomical constraints or high surgical risk preclude primary closure. Common painting agents include povidone-iodine and silver sulfadiazine"
    explanation: >-
      EUPSA consensus recommends paint-and-wait conservative topical management
      when primary closure is precluded.
- name: Awake graduated compression dressing
  description: >-
    A bedside, awake gradual compression dressing technique for exomphalos major
    that reduces sac contents without general anaesthetic or respiratory
    compromise and permits simultaneous early enteral feeding.
  treatment_term:
    preferred_term: supportive care
    term:
      id: MAXO:0000950
      label: supportive care
  evidence:
  - reference: PMID:38376641
    reference_title: "A case series of successfully managing exomphalos major with awake graduated compression dressing and early enteral feeding."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "This case series describes a successful compression dressing technique that reduces sac content without the need for general anaesthetic or respiratory compromise, whereby simultaneous enteral feeding is tolerated."
    explanation: >-
      Supports awake graduated compression dressing as a conservative bedside
      reduction strategy for exomphalos major.
- name: Prenatal diagnosis and genetic testing
  description: >-
    Prenatal ultrasound is the principal diagnostic modality and supports
    classification into isolated versus non-isolated omphalocele, guiding genetic
    testing (karyotype + chromosomal microarray, with WES escalation) and
    counseling.
  treatment_term:
    preferred_term: prenatal examination
    term:
      id: MAXO:0000528
      label: prenatal examination
  evidence:
  - reference: PMID:37726736
    reference_title: "Ultrasonographic characteristics, genetic features, and maternal and fetal outcomes in fetuses with omphalocele in China: a single tertiary center study."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Routine karyotyping with CMA testing should be provided for fetuses with omphalocele. WES is an option if karyotype and CMA tests are normal."
    explanation: >-
      Supports prenatal genetic testing workflow (karyotype + CMA, then WES) for
      prenatally diagnosed omphalocele.
- name: Genetic counseling
  description: >-
    Genetic counseling addresses the high rate of associated chromosomal
    abnormalities and syndromes (including Beckwith-Wiedemann syndrome) and their
    prognostic and recurrence implications.
  treatment_term:
    preferred_term: Genetic Counseling
    term:
      id: NCIT:C15240
      label: Genetic Counseling
  evidence:
  - reference: PMID:39576336
    reference_title: "Omphalocele prevalence and co-occurring malformations: a nationwide register-based study of Danish live births in 1997-2021."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Over one-half (53.7%) presented with one or more major malformations, and an additional 17.0% were diagnosed with a syndrome."
    explanation: >-
      The high burden of co-occurring malformations and syndromes supports the
      role of genetic counseling.

references:
- reference: PMID:32131131
  title: "Omphalocele in Finland from 1993 to 2014: Trends, Prevalence, Mortality, and Associated Malformations-A Population-Based Study."
- reference: PMID:34392395
  title: "Omphalocele: national current birth prevalence and survival."
- reference: PMID:37189937
  title: "Additional Anomalies in Children with Gastroschisis and Omphalocele: A Retrospective Cohort Study."
- reference: PMID:37726736
  title: "Ultrasonographic characteristics, genetic features, and maternal and fetal outcomes in fetuses with omphalocele in China: a single tertiary center study."
- reference: PMID:38021990
  title: "Enhancing Omphalocele Care: Navigating Complications and Innovative Treatment Approaches."
- reference: PMID:38376641
  title: "A case series of successfully managing exomphalos major with awake graduated compression dressing and early enteral feeding."
- reference: PMID:38960901
  title: "Use of a new vertical traction device for early traction-assisted staged closure of congenital abdominal wall defects: a prospective series of 16 patients."
- reference: PMID:39576336
  title: "Omphalocele prevalence and co-occurring malformations: a nationwide register-based study of Danish live births in 1997-2021."
- reference: PMID:40150018
  title: "Omphalocele and Associated Anomalies: Exploring Pulmonary Development and Genetic Correlations-A Literature Review."
- reference: PMID:40389219
  title: "European Paediatric Surgeons' Association Consensus Statement on the Management of Giant Omphalocele."

📚

References & Deep Research

References

10

PMID:32131131

Omphalocele in Finland from 1993 to 2014: Trends, Prevalence, Mortality, and Associated Malformations-A Population-Based Study.