trisomy 9p
Findings
No curated finding names trisomy 9p yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.
Definition from the Mondo Disease Ontology (MONDO:0016526), read 2026-09-29. CC BY 4.0.
Features
27 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 dermatoglyphicsHPOHP:0007477
- Very frequent (80% to 99% of cases)
- Abnormal nasal morphologyHPOHP:0005105
- Very frequent (80% to 99% of cases)
- Abnormal pupil morphologyHPOHP:0000615
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- Very frequent (80% to 99% of cases)
- Deeply set eyeHPOHP:0000490
- Very frequent (80% to 99% of cases)
- Downturned corners of mouthHPOHP:0002714
- Very frequent (80% to 99% of cases)
Show the remaining 15
- Protruding earHPOHP:0000411
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Wide intermamillary distanceHPOHP:0006610
- Very frequent (80% to 99% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
Where it sits
Other names
13 names
Resolves to: trisomy 9p
- Also called
- 9p duplication9p trisomychromosome 9p duplicationDuplication 9pDuplication of the short arm of chromosome 9partial duplication of chromosome 9ppartial duplication of the short arm of chromosome 9partial trisomy 9ppartial trisomy of chromosome 9ppartial trisomy of the short arm of chromosome 9partial trisomy of the short arm of chromosome type 9trisomy of the short arm of chromosome 9trisomy type 9p