Charlie M syndrome
ORPHA: 1406
Overview
syndrome characterised tongue anomalies and distal limb deficiencies.
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 Charlie M syndrome, sourced from HPO and Orphanet clinical annotations.
Narrow mouthThin vermilion borderHypertelorismMicrognathiaBrachydactylySplit handAbnormal fingernail morphologyFinger syndactylyAbnormal toenail morphologyTooth agenesisNon-midline cleft of the upper lipShort philtrumWide nasal bridgeAbnormal metacarpal morphologyMacrotiaTriphalangeal thumb
Classification & Codes
Orphanet Code
ORPHA:1406Charlie M syndrome
| Orphanet | ORPHA:1406 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO