chromosome 8q21.11 deletion syndrome
Findings
No curated finding names chromosome 8q21.11 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.
Definition from the Mondo Disease Ontology (MONDO:0013646), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Sporadic
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
57 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.
- Intellectual disabilityHPOHP:0001249
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Protruding earHPOHP:0000411
- 8 of 8 reported patients
- Exaggerated cupid's bowHPOHP:0002263
- 7 of 8 reported patients
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- 7 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Round faceHPOHP:0000311
Show the remaining 45
- High foreheadHPOHP:0000348
- 6 of 8 reported patients
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- 6 of 8 reported patients
- Frequent (30% to 79% of cases)
- Short palpebral fissureHPOHP:0012745
- 6 of 8 reported patients
- Underdeveloped nasal alaeHPOHP:0000430
- 6 of 8 reported patients
- Frequent (30% to 79% of cases)
- Wide nasal bridgeHPOHP:0000431
- 6 of 8 reported patients
- EpicanthusHPOHP:0000286
Where it sits
Other names
5 names
Resolves to: chromosome 8q21.11 deletion syndrome
- Also called
- 8q21.11 microdeletion syndromechromosome 8q21.11 deletion syndrome, isolated casesDel(8)(q21.11)deletion 8q21.11monosomy 8q21.11