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Disease Profile
Trisomy 13
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
Q91.4 Q91.5 Q91.6 Q91.7
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)
Patau syndrome; Chromosome 13, trisomy 13 complete; Complete trisomy 13 syndrome;
Categories
Chromosome Disorders; Congenital and Genetic Diseases; Digestive Diseases;
Summary
Symptoms
Other features of trisomy 13 may include:[3]
- Clenched hands (with outer fingers on top of the inner fingers)
- Close-set eyes
- Hernias: umbilical hernia, inguinal hernia
- A hole, split, or cleft in the iris of the eye (coloboma)
- Low-set ears
- Scalp defects such as missing skin
Seizures - Single palmar crease
- Skeletal (limb) abnormalities
- Small head (
microcephaly ) - Small lower jaw (
micrognathia ) - Undescended testicle (cryptorchidism)
Trisomy 13 involves multiple abnormalities, many of which are life-threatening. More than 80% of children with trisomy 13 do not survive past the first month of life. For those that do survive, complications may include:[3]
- Breathing difficulty or lack of breathing (apnea)
- Deafness
- Feeding problems
- Heart failure
- Vision problems
People with trisomy 13 who survive infancy have severe intellectual disability and developmental delays, and are at increased risk for
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 | ||
Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 |
Abnormality of the fontanelles or cranial sutures | 0000235 | |
Anophthalmia |
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ] |
0000528 |
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 |
Bilateral single transverse palmar creases | 0007598 | |
Cleft roof of mouth
|
0000175 | |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Cystic hygroma | 0000476 | |
Hydrops fetalis | 0001789 | |
Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ] |
0000601 |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Median |
Central cleft upper lip
|
0000161 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
Patent ductus arteriosus | 0001643 | |
Postaxial hand polydactyly |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] |
0001162 |
Seizure | 0001250 | |
Severe global |
0011344 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
30%-79% of people have these symptoms | ||
Abnormal eyelash morphology |
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality
[ more ] |
0000499 |
Abnormal lung lobation | 0002101 | |
Abnormal morphology of female internal genitalia | 0000008 | |
Abnormal retinal vascular morphology |
Abnormality of retina blood vessels
|
0008046 |
Abnormality of the antihelix | 0009738 | |
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] |
0000164 |
Abnormality of the helix | 0011039 | |
Abnormality of the middle ear | 0000370 | |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Abnormality of the ureter | 0000069 | |
Abnormality of vision |
Abnormality of sight
Vision issue
[ more ] |
0000504 |
Aplasia/Hypoplasia of the iris |
Absent/small iris
Absent/underdeveloped iris
[ more ] |
0008053 |
Arnold-Chiari malformation | 0002308 | |
Calvarial skull defect |
Cranial defect
Skull defect
[ more ] |
0001362 |
Capillary hemangioma |
Strawberry birthmark
|
0005306 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
Displacement of the urethral meatus | 0100627 | |
Ectrodactyly |
Cleft hand
Lobster claw hand
[ more ] |
0100257 |
Hernia | 0100790 | |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 |
Hydronephrosis | 0000126 | |
Iris coloboma |
Cat eye
|
0000612 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Long philtrum | 0000343 | |
Multiple renal cysts |
Multiple kidney cysts
|
0005562 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more |