Schisis association

Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia (see these terms). These anomalies are associated at a higher frequency than would be expected with random combination rates.



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Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(52.1%)		 23607868
 A case of dichorionic twin pregnancy concordant for bilateral cleft lip and palate and discordant for spina bifida; schisis association.
Kutuk MS, Ozgun MT, Uludag S, Akgun H, Balta B.
Fetal Pediatr Pathol. 2013;32(5):371-4.
Oral cleft Oligodactyly
Cleft Palate Diseases in Twins Females Homo sapiens Male Pregnancy Spina Bifida Toes Young Adult
2
(39.0%)		 12116204
 Developmental field defects: coming together of associations and sequences during blastogenesis.
Hersh JH, Angle B, Fox TL, Barth RF, Bendon RW, Gowans G.
Am J Med Genet. 2002;110(4):320-3.
Encephalocele
Anus, Imperforate Chromosome Aberrations Chromosomes, Human, Pair 18 Congenital Heart Defects Ectromelia Fatal Outcome Fetal Diseases Holoprosencephaly Homo sapiens Infant, Newborn Kidney Male
3
(34.6%)		 8074153
 Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome?
Genuardi M, Silvestri E, Tozzi C.
Am J Med Genet. 1994;51(3):247-50.
Hydronephrosis Syndactyly Split hand
Fatal Outcome Females Genes, Dominant Homo sapiens Hydronephrosis Infant, Newborn Limb Deformities, Congenital Neural Tube Defects Respiratory Diaphragm Syndactyly Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 15

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0001518 Small for gestational age Very frequent (99-80%)
HP:0001539 Omphalocele Very frequent (99-80%)
HP:0001622 Premature birth Very frequent (99-80%)
HP:0002323 Anencephaly Very frequent (99-80%)
HP:0100333 Unilateral cleft lip Very frequent (99-80%)
HP:0000776 Congenital diaphragmatic hernia Frequent (79-30%)
HP:0002084 Encephalocele Frequent (79-30%)
HP:0002414 Spina bifida Frequent (79-30%)
HP:0000104 Renal agenesis Occasional (29-5%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0002023 Anal atresia Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002575 Tracheoesophageal fistula Occasional (29-5%)
HP:0002983 Micromelia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0002084 Encephalocele 1
HP:0002414 Spina bifida 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID