mesomelia-synostoses syndrome
MeSH: C537348ORPHA: 2496
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 mesomelia-synostoses syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal humerus morphologyMicrognathiaDownslanted palpebral fissuresTelecanthusPtosisAbnormality of the handBrachydactylyJoint stiffnessMetatarsal synostosisAbnormal foot morphologyShort footSkeletal dysplasiaHigh, narrow palateMicromeliaAbnormal tibia morphologyAbnormality of the wristMesomeliaClinodactyly of the 5th fingerShort statureSynostosis of carpal bonesAbnormal metacarpal morphologyUlnar deviation of fingerAplasia/Hypoplasia of the uvulaSynostosis of jointsAbnormal femur morphologyHydronephrosisNarrow mouthAbnormal oral frenulum morphologyMalar flatteningTriangular faceLong philtrumHearing impairmentBulbous noseConvex nasal ridgeAbnormal eyebrow morphologyMyopiaUmbilical herniaAbnormality of the kneeGenu valgumAbnormality of the ankleAbnormal cardiovascular system morphology
Classification & Codes
MeSH Code
C537348Orphanet Code
ORPHA:2496mesomelia-synostoses syndrome
| MeSH | C537348 |
| Orphanet | ORPHA:2496 |
| Treatments | 0 drug(s) |
| Symptoms on record | 41 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO