Eiken syndrome
MeSH: C564010ORPHA: 79106
Overview
a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification; it has been described in 6 members of a unique consanguineous family
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 Eiken syndrome, sourced from HPO and Orphanet clinical annotations.
Epiphyseal dysplasiaArthralgiaLimited elbow flexionBroad palmAbnormal fingertip morphologyBroad footShort footShort toeDelayed epiphyseal ossificationThin bony cortexCubitus valgusMetaphyseal irregularityFibular hypoplasiaAbnormal acetabulum morphologyNarrow pelvis boneShort palmShort statureLimited hip movementHigh iliac wingShort phalanx of fingerAbsence of the sacrumAbnormal bone ossificationAbnormal trabecular bone morphology
Classification & Codes
MeSH Code
C564010Orphanet Code
ORPHA:79106Eiken syndrome
| MeSH | C564010 |
| Orphanet | ORPHA:79106 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO