National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Schisis association


Other Names:
Midline development field defects
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 63862

Definition
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.

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 15 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Anencephaly 0002323
Cleft palate
Cleft roof of mouth
0000175
Omphalocele 0001539
Premature birth
Premature delivery of affected infants
Preterm delivery
[ more ] 		0001622
Small for gestational age
Birth weight less than 10th percentile
Low birth weight
[ more ] 		0001518
Unilateral cleft lip
One sided cleft upper lip
0100333
30%-79% of people have these symptoms
Congenital diaphragmatic hernia 0000776
Encephalocele 0002084
Spina bifida 0002414
5%-29% of people have these symptoms
Abnormality of cardiovascular system morphology 0030680
Anal atresia
Absent anus
0002023
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Micromelia
Smaller or shorter than typical limbs
0002983
Renal agenesis
Absent kidney
Missing kidney
[ more ] 		0000104
Tracheoesophageal fistula 0002575
Showing of 15 |
Last updated: 7/1/2020

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Schisis association. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.