trisomy 13
MONDO:0018068Mondo
Findings
No curated finding names trisomy 13 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.
Definition from the Mondo Disease Ontology (MONDO:0018068), read 2026-09-29. CC BY 4.0.
Features
60 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Abnormal cranial suture/fontanelle morphologyHPOHP:0000235
- Very frequent (80% to 99% of cases)
- Abnormal pelvic girdle bone morphologyHPOHP:0002644
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- AnophthalmiaHPOHP:0000528
- Very frequent (80% to 99% of cases)
- Atrial septal defectHPOHP:0001631
- Very frequent (80% to 99% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Cystic hygromaHPOHP:0000476
- Very frequent (80% to 99% of cases)
- Hydrops fetalisHPOHP:0001789
- Very frequent (80% to 99% of cases)
- HypotelorismHPOHP:0000601
- Very frequent (80% to 99% of cases)
Show the remaining 48
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- Median cleft upper lipHPOHP:0000161
- Very frequent (80% to 99% of cases)
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
Where it sits
- Narrower terms (2)
Other names
4 names
Resolves to: trisomy 13
- Also called
- Patau syndromePatau's syndromeTrisomy 13 Syndrometrisomy type 13