isolated Klippel-Feil syndrome
ORPHA: 2345
Overview
Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae
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 isolated Klippel-Feil syndrome, sourced from HPO and Orphanet clinical annotations.
Facial asymmetryWebbed neckShort neckAbnormality of the vertebral columnLow posterior hairlineCervical C2/C3 vertebral fusionAbnormal vertebral segmentation and fusionLimitation of neck motionAbnormality of the genitourinary systemHearing impairmentAbnormal rib morphologySprengel anomalyHeadacheScoliosisAbnormal shoulder morphologySpina bifida occultaCongenital muscular torticollisNeck painEctopic kidneyCleft palateAbnormal cranial nerve morphologyVentricular septal defectAnal atresiaSpina bifidaSpinal canal stenosisHemiplegia/hemiparesisEctopic anusAbnormal sacrum morphologyRenal hypoplasia/aplasiaAbnormal cardiovascular system morphologySynkinesisCognitive impairment
Classification & Codes
Orphanet Code
ORPHA:2345isolated Klippel-Feil syndrome
| Orphanet | ORPHA:2345 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO