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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessKlippel-Feil syndrome


Short information

A curated panel containing 4 genes for the comprehensive analysis of the suspected Klippel-Feil syndrome

Number of genes
4 Accredited laboratory test
Examined sequence length
11,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity

Informations about the disease

Clinical Comment

Klippel-Feil syndrome is defined as a congenital fusion of two or more cervical vertebrae. The term Klippel-Feil anomaly is commonly used to describe a number of different phenotypes with the symptoms of short neck, low hairline at the back of the head and limited mobility in the neck. People with Klippel-Feil syndrome may have a variety of other characteristics in addition to vertebral fusion: Eye abnormalities, hearing problems, cleft palate, urogenital problems or other skeletal defects. Klippel-Feil anomaly sometimes occurs sporadically, in families inheritance is autosomal dominant or autosomal recessive (with unknown penetrance). The diagnostic yield is not known. An inconspicuous genetic finding does not mean a reliable exclusion of the suspected clinical diagnosis.

(Basic diagnostic genes: ###)

Reference: https://rarediseases.org/rare-diseases/klippel-feil-syndrome/


  • Allelic: Leber congenital amaurosis 17 (GDF6)
  • Allelic: Microphthalmia with coloboma 6 (GDF3)
  • Allelic: Microphthalmia with coloboma 6, digenic (GDF6)
  • Allelic: Microphthalmia, isolated 4 (GDF6)
  • Allelic: Microphthalmia, isolated 7 (GDF3)
  • Allelic: Multiple synostoses syndrome 4 (GDF6)
  • Allelic: Spondylocostal dysostosis 6 (RIPPLY2)
  • Klippel-Feil syndrome 1, AD (GDF6)
  • Klippel-Feil syndrome 2, AR (MEOX1)
  • Klippel-Feil syndrome 3, AD (GDF3)
  • Klippel-Feil syndrome 4, AR, with myopathy + facial dysmorphism (MYO18B)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined