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

Tetraploidy


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

Orpha Number: 3305

Definition
Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies, including central nervous system, ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine groth retardation, hypotonia, failure to thrive and developmental delay. It is usually associated with miscarriage.

Visit the Orphanet disease page for more resources.
Last updated: 7/1/2018

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of chromosome segregation 0002916
Biparietal narrowing 0004422
Convex nasal ridge
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ] 		0000444
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
30%-79% of people have these symptoms
Hypoplasia of the ear cartilage
Underdeveloped ear cartilage
0100720
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Radial club hand 0004059
Short philtrum 0000322
5%-29% of people have these symptoms
Aplasia/Hypoplasia affecting the eye
Absent/small eye
Absent/underdeveloped eye
[ more ] 		0008056
Aplasia/Hypoplasia of the lungs
Absent/small lungs
Absent/underdeveloped lungs
[ more ] 		0006703
Aplasia/Hypoplasia of the thymus
Absent/small thymus
Absent/underdeveloped thymus
[ more ] 		0010515
Arnold-Chiari malformation 0002308
Cleft palate
Cleft roof of mouth
0000175
Hydronephrosis 0000126
Preauricular skin tag 0000384
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney
[ more ] 		0008678
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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.

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