frontofacionasal dysplasia
Findings
No curated finding names frontofacionasal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).
Definition from the Mondo Disease Ontology (MONDO:0009247), read 2026-09-29. CC BY 4.0.
Features
31 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.
- BlepharophimosisHPOHP:0000581
- Very frequent (80% to 99% of cases)
- Broad foreheadHPOHP:0000337
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Depressed nasal ridgeHPOHP:0000457
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- Very frequent (80% to 99% of cases)
- Non-midline cleft of the upper lipHPOHP:0100335
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- TelecanthusHPOHP:0000506
- Very frequent (80% to 99% of cases)
- Tessier cleftHPOHP:0002006
- Very frequent (80% to 99% of cases)
Show the remaining 19
- Upper eyelid colobomaHPOHP:0000636
- Very frequent (80% to 99% of cases)
- Absent inner eyelashesHPOHP:0007708
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the eyebrowHPOHP:0100840
- Frequent (30% to 79% of cases)
- Bifid nasal tipHPOHP:0000456
- Frequent (30% to 79% of cases)
- BrachycephalyHPOHP:0000248
- Frequent (30% to 79% of cases)
- Brushfield spotsHPOHP:0001088
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: frontofacionasal dysplasia
- Also called
- Gollop syndrome