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Schisis association

Synonym(s) -
Prevalence Unknown
Inheritance Unknown
Age of onset Infancy
  • Q87.8
  • C2931271
  • C536633
MedDRA -


Schisis association is a term describing any combination of two or more malformations including neural tube defects (NTDs: anencephaly, encephalocele, spina bifida aperta), oral clefts (cleft lip and/or palate, posterior cleft palate), omphalocele, and diaphragmatic hernia. The association is rare, occurring in about 1 birth per 10,000. Epidemiological studies have shown that these anomalies occur in association far more frequently than would be expected on the basis of chance. A large study on NTDs showed that the most frequent association of the schisis type was NTDs accompanied by cleft lip with or without cleft palate (67.5%), followed by anencephaly with cleft palate (8.3%) and anencephaly with omphalocele (6.6%). According to another large study, it occurs more often in girls (sex ratio: 0.33), in twins (4.6%), in breech presentations (13.7%), in association with low birth weight, and in association with prematurity. Mothers of affected children have a significantly higher miscarriage rate. Schisis association occurs sporadically in most cases, but occurrence of schisis-type abnormalities was found in 3.7% of the sibs of index patients, with most of these cases involving NTDs or oral clefts. The prognosis is poor: Schisis association is lethal in more than 70% of cases.

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