Frontofacionasal dysplasia
MeSH: C538063ORPHA: 1791
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Frontofacionasal dysplasia, sourced from HPO and Orphanet clinical annotations.
Cleft palateBrachycephalyHypertelorismBroad foreheadPreauricular skin tagChoanal atresiaBifid nasal tipDepressed nasal ridgeMicrocorneaTelecanthusPtosisCataractMicrophthalmiaBlepharophimosisIris colobomaUpper eyelid colobomaBrushfield spotsLimbal dermoidSubcutaneous noduleTessier cleftHypoplasia of the corpus callosumEncephaloceleShort noseDimple on nasal tipShort statureDepressed nasal bridgeHypoplasia of olfactory tractAbsent inner eyelashesMidface retrusionNon-midline cleft of the upper lipAplasia/Hypoplasia of the eyebrow
Classification & Codes
MeSH Code
C538063Orphanet Code
ORPHA:1791Frontofacionasal dysplasia
| MeSH | C538063 |
| Orphanet | ORPHA:1791 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO