- Patau syndrome
- Chromosome 13, trisomy 13 complete
- Complete trisomy 13 syndrome
- D trisomy syndrome (formerly)
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Other features or trisomy 13 may include:
- 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
- Single palmar crease
- Skeletal (limb) abnormalities
- Small head (microcephaly)
- Small lower jaw (micrognathia)
- Undescended testicle (cryptorchidism)
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.
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.
- Trisomy 13. Genetics Home Reference (GHR). November 2013; http://ghr.nlm.nih.gov/condition/trisomy-13.
- Trisomy 13 Syndrome. National Organization for Rare Disorders (NORD). 2007; http://rarediseases.org/rare-diseases/trisomy-13-syndrome/.
- Haldeman-Englert C. Trisomy 13. MedlinePlus. September 2013; http://www.nlm.nih.gov/medlineplus/ency/article/001660.htm.