chromosome 18p deletion syndrome
MONDO:0007800Mondo
Findings
No curated finding names chromosome 18p deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.
Definition from the Mondo Disease Ontology (MONDO:0007800), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
47 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.
- Delayed speech and language developmentHPOHP:0000750
- 6 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Depressed nasal ridgeHPOHP:0000457
- 6 of 7 reported patients
- HypotoniaHPOHP:0001252
- 6 of 7 reported patients
- Frequent (30% to 79% of cases)
- Wide nasal bridgeHPOHP:0000431
- 6 of 7 reported patients
- Frequent (30% to 79% of cases)
- Abnormal antihelix morphologyHPOHP:0009738
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
Show the remaining 35
- MicrognathiaHPOHP:0000347
- 5 of 7 reported patients
- Frequent (30% to 79% of cases)
- PtosisHPOHP:0000508
- 5 of 7 reported patients
- Frequent (30% to 79% of cases)
- BrachycephalyHPOHP:0000248
- Frequent (30% to 79% of cases)
- Carious teethHPOHP:0000670
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- Downturned corners of mouthHPOHP:0002714
Where it sits
Other names
10 names
Resolves to: chromosome 18p deletion syndrome
- Also called
- 18p syndrome18p-chromosome 18p deletiondeletion 18p syndromemonosomy type 18ppartial deletion of chromosome 18ppartial deletion of the short arm of chromosome 18partial deletion of the short arm of chromosome type 18partial monosomy of chromosome 18ppartial monosomy of the short arm of chromosome 18