distal trisomy 6p
MONDO:0015769Mondo
Findings
No curated finding names distal trisomy 6p yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.
Definition from the Mondo Disease Ontology (MONDO:0015769), read 2026-09-29. CC BY 4.0.
Features
33 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 eyelash morphologyHPOHP:0000499
- Very frequent (80% to 99% of cases)
- Abnormal hair quantityHPOHP:0011362
- Very frequent (80% to 99% of cases)
- Abnormality of chromosome segregationHPOHP:0002916
- Very frequent (80% to 99% of cases)
- BlepharophimosisHPOHP:0000581
- Very frequent (80% to 99% of cases)
- Dry skinHPOHP:0000958
- Very frequent (80% to 99% of cases)
- Fine hairHPOHP:0002213
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Narrow mouthHPOHP:0000160
- Very frequent (80% to 99% of cases)
- Pointed chinHPOHP:0000307
- Very frequent (80% to 99% of cases)
- Prominent nasal bridgeHPOHP:0000426
- Very frequent (80% to 99% of cases)
Show the remaining 21
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Sacral dimpleHPOHP:0000960
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Thin vermilion borderHPOHP:0000233
- Very frequent (80% to 99% of cases)
- Abnormal antitragus morphologyHPOHP:0009896
- Frequent (30% to 79% of cases)
Where it sits
Other names
4 names
Resolves to: distal trisomy 6p
- Also called
- distal duplication 6pdistal trisomy type 6ptelomeric duplication 6ptrisomy 6pter