8q22.1 microdeletion syndrome
MONDO:0011977Mondo
Findings
No curated finding names 8q22.1 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.
Definition from the Mondo Disease Ontology (MONDO:0011977), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Sporadic
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
52 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.
- Absent eyelashesHPOHP:0000561
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- BlepharophimosisHPOHP:0000581
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Broad neckHPOHP:0000475
- 1 of 1 reported patient
- Chin with horizontal creaseHPOHP:0011823
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Everted lower lip vermilion
Show the remaining 40
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Mask-like faciesHPOHP:0000298
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Narrow mouthHPOHP:0000160
- 1 of 1 reported patient
- Overfolded helixHPOHP:0000396
- 1 of 1 reported patient
- Posteriorly rotated earsHPOHP:0000358
- 1 of 1 reported patient
- Sandal gapHPOHP:0001852
Where it sits
Other names
2 names
Resolves to: 8q22.1 microdeletion syndrome
- Also called
- monosomy 8q22.1Nablus mask-like facial syndrome