lethal omphalocele-cleft palate syndrome
Findings
No curated finding names lethal omphalocele-cleft palate syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition.
Definition from the Mondo Disease Ontology (MONDO:0009780), read 2026-09-29. CC BY 4.0.
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- OmphaloceleHPOHP:0001539
- Very frequent (80% to 99% of cases)
- Bifid uterusHPOHP:0000136
- Frequent (30% to 79% of cases)
- Bifid uvulaHPOHP:0000193
- Frequent (30% to 79% of cases)
- Cleft soft palateHPOHP:0000185
- Frequent (30% to 79% of cases)
- HydrocephalusHPOHP:0000238
- Frequent (30% to 79% of cases)
- RetrognathiaHPO
Where it sits
Other names
1 name
Resolves to: lethal omphalocele-cleft palate syndrome
- Also called
- Czeizel syndrome