Fryns-Smeets-Thiry syndrome
ORPHA: 2058
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 Fryns-Smeets-Thiry syndrome, sourced from HPO and Orphanet clinical annotations.
Wide mouthThick lower lip vermilionEverted lower lip vermilionMicrocephalyShort philtrumMicrognathiaProminent nasal bridgeNarrow nasal bridgeArachnodactylyIntellectual disabilityHypotoniaDisproportionate tall statureScoliosisDownturned corners of mouthHip dislocationShort statureCachexiaPatellar aplasiaJoint hypermobility
Classification & Codes
Orphanet Code
ORPHA:2058Fryns-Smeets-Thiry syndrome
| Orphanet | ORPHA:2058 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO