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Klippel-Feil syndrome

MeSH: D007714ORPHA: 2345

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

physical disorder that has material basis in abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra

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 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

MeSH Code

D007714

Orphanet Code

ORPHA:2345
Klippel-Feil syndrome
MeSHD007714
OrphanetORPHA:2345
Treatments0 drug(s)
Symptoms on record32 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO