Lethal omphalocele-cleft palate syndrome

What is Lethal omphalocele-cleft palate syndrome?

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.

Other condition names

• Czeizel syndrome

Inheritance type

Autosomal recessive

Prevalence

• Worldwide: <1 in 1,000 000

Age of Onset

• Antenatal
• Neonatal