FACES syndrome
MeSH: C536384ORPHA: 1969
Overview
human disease
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 FACES syndrome, sourced from HPO and Orphanet clinical annotations.
Anteverted naresPtosisPectus excavatumAbnormality of the thyroid glandMelanocytic nevusAsymmetry of the thoraxAbnormality of the voiceAbnormal mitral valve morphologyAnorexiaScoliosisKyphosisGenu varumSkeletal muscle atrophyMidline defect of the noseShort statureCachexiaFinger syndactylyGeneralized hypopigmentationMultiple cafe-au-lait spotsAbnormal retinal pigmentationShort hard palate
Classification & Codes
MeSH Code
C536384Orphanet Code
ORPHA:1969FACES syndrome
| MeSH | C536384 |
| Orphanet | ORPHA:1969 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO