Rare diseases · Sign or symptom
Omphalocele
HP:0001539
What it means
A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.
Rare diseases that can present with this62
Very common80–99%
10- Axial mesodermal dysplasia spectrum
- Cloacal exstrophy
- Diaphragmatic defect-limb deficiency-skull defect syndrome
- Fetal valproate spectrum disorder
- Growth delay-hydrocephaly-lung hypoplasia syndrome
- Lethal omphalocele-cleft palate syndrome
- Omphalocele
- Pentalogy of Cantrell
- Schisis association
- Trisomy 18 syndrome
Common30–79%
10Sometimes5–29%
39- Ablepharon macrostomia syndrome
- Acalvaria
- ALG9-CDG
- Amniotic band syndrome
- Cardiac diverticulum
- Caudal duplication
- Classic bladder exstrophy
- Colonic atresia
and 31 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Exomphalos · Omphalocoele
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.