Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Schisis association

Orpha number ORPHA63862
Synonym(s) -
Prevalence Unknown
Inheritance Unknown
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
ICD-O -
OMIM -
UMLS
  • C2931271
MeSH
  • C536633
MedDRA -

Summary

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.


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.