Schisis association

Title

Other Names:

Midline development field defects

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

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

Symptoms Symptoms

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 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2020

Do you have updated information on this disease? We want to hear from you.

Learn More Learn More

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.

GARD Answers GARD Answers

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.

Have a question? Contact a GARD Information Specialist.

You can help advance
rare disease research! You can help advance rare disease research!