flat face-microstomia-ear anomaly syndrome
MeSH: C537339ORPHA: 1968
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 flat face-microstomia-ear anomaly syndrome, sourced from HPO and Orphanet clinical annotations.
Narrow mouthMalar flatteningLong faceBroad foreheadLong philtrumMicrognathiaHigh foreheadMacrotiaUnderdeveloped nasal alaeWide nasal bridgeTelecanthusBlepharophimosisHypernasal speechHighly arched eyebrowHigh, narrow palateDownturned corners of mouthLong noseAbnormal antihelix morphologyAbnormal antitragus morphologyAplasia/Hypoplasia of the earlobesAbnormal tragus morphologyHypoplasia of the zygomatic boneDimple chinFlat faceSparse eyebrowInguinal herniaCryptorchidismSmall scrotumScoliosisAbnormal oral mucosa morphologyCamptodactyly of fingerPosteriorly rotated ears
Classification & Codes
MeSH Code
C537339Orphanet Code
ORPHA:1968flat face-microstomia-ear anomaly syndrome
| MeSH | C537339 |
| Orphanet | ORPHA:1968 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO