six2-related frontonasal dysplasia
MONDO:0044628Mondo
Findings
No curated finding names six2-related frontonasal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
19 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/hypoplastic paranasal sinusesHPOHP:0005453
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the frontal sinusesHPOHP:0009119
- Very frequent (80% to 99% of cases)
- Broad nasal tipHPOHP:0000455
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Epicanthus inversusHPOHP:0000537
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- High foreheadHPOHP:0000348
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Abnormal skull base morphologyHPOHP:0002693
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- MacrocephalyHPOHP:0000256
- Frequent (30% to 79% of cases)
Reported absent (3)
- Abnormality of the kidneyHPOHP:0000077
- Abnormality of the thyroid glandHPOHP:0000820
- Global developmental delayHPOHP:0001263
Show the remaining 7
- Metopic synostosisHPOHP:0011330
- Frequent (30% to 79% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
- Premature posterior fontanelle closureHPOHP:0005494
- Frequent (30% to 79% of cases)
- Prominent palatine ridgesHPOHP:0010291
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Small for gestational ageHPOHP:0001518
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: six2-related frontonasal dysplasia
- Also called
- SIX2-related FND