Larsen syndrome
MeSH: C580241ORPHA: 503
Overview
autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities
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 Larsen syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismCleft palateMalar flatteningHypertelorismConductive hearing impairmentBrachydactylyIntellectual disabilityCraniosynostosisAbnormality of the cardiovascular systemShort nailRespiratory insufficiencyScoliosisAbnormality of the cervical spineVertebral segmentation defectAccessory carpal bonesShort statureLarge joint dislocationsDepressed nasal bridgeAbnormal epiphysis morphologyFinger syndactylyLaryngotracheomalaciaBroad distal phalanx of fingerShort distal phalanx of fingerProminent foreheadBroad thumbFlat faceJoint hypermobility
Classification & Codes
MeSH Code
C580241Orphanet Code
ORPHA:503Larsen syndrome
| MeSH | C580241 |
| Orphanet | ORPHA:503 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO