Rare Endocrinology News
Disease Profile
Trisomy 18
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Neonatal
ICD-10
Q91.0 Q91.1 Q91.2 Q91.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Chromosome 18 trisomy; 18 trisomy; Edwards syndrome;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Eye diseases;
Summary
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
Cachexia |
Wasting syndrome
|
0004326 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Deviation of finger |
Atypical position of finger
Finger pointing in a different direction than usual
[ more ] |
0004097 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Global |
0001263 | |
High forehead | 0000348 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypertonia | 0001276 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Low-set, posteriorly rotated ears | 0000368 | |
Microretrognathia |
Small retruded chin
|
0000308 |
Muscular |
Low or weak muscle tone
|
0001252 |
Narrow face |
Decreased breadth of face
Decreased width of face
[ more ] |
0000275 |
Narrow mouth |
Small mouth
|
0000160 |
Narrow palate |
Narrow roof of mouth
|
0000189 |
Narrow pelvis bone | 0003275 | |
Omphalocele | 0001539 | |
Pointed helix |
Spock's ear
|
0100810 |
Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ] |
0000269 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ] |
0000325 |
Underdeveloped supraorbital ridges |
Flattened bony protrusion above eyes
|
0009891 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
30%-79% of people have these symptoms | ||
Abnormal morphology of female internal genitalia | 0000008 | |
Abnormal toenail morphology |
Abnormality of the toenail
Abnormality of the toenails
[ more ] |
0008388 |
Abnormality of the fontanelles or cranial sutures | 0000235 | |
Abnormality of the hip bone |
Abnormality of the hips
|
0003272 |
Anal atresia |
Absent anus
|
0002023 |
Bilateral single transverse palmar creases | 0007598 | |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ] |
0000453 |
Cleft roof of mouth
|
0000175 | |
0000776 | ||
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Esophageal atresia |
Birth defect in which part of esophagus did not develop
|
0002032 |
Hydronephrosis | 0000126 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Non-midline |
0100335 | |
Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
Webbed neck |
Neck webbing
|
0000465 |
5%-29% of people have these symptoms | ||
Abnormality of retinal pigmentation | 0007703 | |
Abnormality of the lower limb |
Lower limb deformities
|
0002814 |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Anencephaly | 0002323 | |
Aplasia/Hypoplasia of the |
0007370 | |
Arnold-Chiari malformation | 0002308 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cyclopia |
Cyclops eye
Single central eye
[ more ] |
0009914 |
0000501 | ||
Holoprosencephaly | 0001360 | |
Iris coloboma |
Cat eye
|
0000612 |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
Microphthalmia |
Abnormally small eyeball
|
Cause In most cases,
About 5% of people with trisomy 18 have 'mosaic trisomy 18' (when there is an extra copy of the chromosome in only some of the body's cells). The severity of mosaic trisomy 18 depends on the number and locations of cells with the extra copy. Very rarely, an extra piece of chromosome 18 is attached to another chromosome; this is called OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Learn moreThese 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. Where to Start
In-Depth Information
References
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