NIH Rare Diseases

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2736Disease definitionLethal omphalocele-cleft palatesyndrome 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.Visit the Orphanet disease page for more resources. Last updated: 2/1/2006