facial dermal dysplasia type 1
ORPHA: 79133
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 facial dermal dysplasia type 1, sourced from HPO and Orphanet clinical annotations.
Thick upper lip vermilionLow anterior hairlinePointed chinBulbous noseDepressed nasal tipAbsent eyelashesAplasia cutis congenitaAtrophic scarsAbnormal facial shapeDownturned corners of mouthSparse lateral eyebrowSpotty hyperpigmentationSpotty hypopigmentationSparse hairDistichiasisSkin dimpleVertical forehead creases
Classification & Codes
Orphanet Code
ORPHA:79133facial dermal dysplasia type 1
| Orphanet | ORPHA:79133 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO