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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Trisomy 13


Other Names for this Disease

  • Chromosome 13, trisomy 13 complete
  • Complete trisomy 13 syndrome
  • D trisomy syndrome (formerly)
  • Patau syndrome
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Symptoms

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What are the signs and symptoms of trisomy 13?

Trisomy 13 is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with this condition often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers and/or toes (polydactyly), cleft lip or palate, and decreased muscle tone (hypotonia).[1] Many infants with trisomy 13 fail to grow and gain weight at the expected rate (failure to thrive), have severe feeding difficulties, and episodes in which there is temporary cessation of spontaneous breathing (apnea).[2]

 
Other features or trisomy 13 may include:[3]

 

Last updated: 1/9/2012

The Human Phenotype Ontology provides the following list of signs and symptoms for Trisomy 13. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of chromosome segregation 90%
Abnormality of pelvic girdle bone morphology 90%
Abnormality of the fontanelles or cranial sutures 90%
Cleft palate 90%
Cognitive impairment 90%
Cystic hygroma 90%
Defect in the atrial septum 90%
Hydrops fetalis 90%
Hypotelorism 90%
Intrauterine growth retardation 90%
Low-set, posteriorly rotated ears 90%
Malar flattening 90%
Median cleft lip 90%
Muscular hypotonia 90%
Neurological speech impairment 90%
Patent ductus arteriosus 90%
Postaxial hand polydactyly 90%
Seizures 90%
Single transverse palmar crease 90%
Ventricular septal defect 90%
Abnormal lung lobation 50%
Abnormality of female internal genitalia 50%
Abnormality of the antihelix 50%
Abnormality of the eyelashes 50%
Abnormality of the helix 50%
Abnormality of the middle ear 50%
Abnormality of the retinal vasculature 50%
Abnormality of the ribs 50%
Abnormality of the teeth 50%
Abnormality of the ureter 50%
Aplasia/Hypoplasia of the iris 50%
Arnold-Chiari malformation 50%
Cataract 50%
Cryptorchidism 50%
Deeply set eye 50%
Displacement of the external urethral meatus 50%
Hernia 50%
Iris coloboma 50%
Kyphosis 50%
Long philtrum 50%
Narrow chest 50%
Optic atrophy 50%
Polycystic kidney dysplasia 50%
Preauricular skin tag 50%
Scoliosis 50%
Skull defect 50%
Split hand 50%

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Trisomy 13. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition=trisomy13. Accessed 10/13/2009.
  2. Trisomy 13 Syndrome. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Trisomy%2013%20Syndrome. Accessed 10/13/2009.
  3. Chambers D. Trisomy 13. MedlinePlus. 2009; http://www.nlm.nih.gov/medlineplus/ency/article/001660.htm. Accessed 10/13/2009.


Other Names for this Disease
  • Chromosome 13, trisomy 13 complete
  • Complete trisomy 13 syndrome
  • D trisomy syndrome (formerly)
  • Patau syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.