Isolated Klippel-feil Syndrome

Description

Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

Clinical Features

Top most frequent phenotypes and symptoms related to Isolated Klippel-feil Syndrome

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate
  • Low-set ears
  • Cognitive impairment
  • High palate
  • Ventricular septal defect
  • Short neck

And another 33 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Isolated Klippel-feil Syndrome have a estimated birth prevalence of 0.6 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Isolated Klippel-feil Syndrome Is also known as congenital cervical vertebral fusion, klippel-feil sequence, congenital fused cervical segments, klippel-feil malformation, cervical vertebral fusion, autosomal recessive, kfs, autosomal recessive.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Isolated Klippel-feil Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
67 %
GDF3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

GDF3
Specificity
100 %
Genes
34 %
Klippel-Feil syndrome type 3, AD (sequence analysis of GDF3 gene).

By CGC Genetics (Portugal).

GDF3
Specificity
100 %
Genes
34 %
Microphthalmia (NGS panel for 26 genes).

By CGC Genetics (Portugal).

BMP4, SHH, SIX6, SOX2, VAX1, MFRP, RAX, NAA10, VSX2, SMOC1, CHD7, BCOR, FREM1, TENM3, STRA6, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6 , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
67 %
Klippel-Feil syndrome (NGS panel for 5 genes).

By CGC Genetics (Portugal).

MYO18B, RIPPLY2, GDF3, GDF6, MEOX1
Specificity
60 %
Genes
100 %
Klippel-Feil syndrome (NGS panel for 5 genes).

By CGC Genetics (Portugal).

MYO18B, RIPPLY2, GDF3, GDF6, MEOX1
Specificity
60 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
2 %
Genes
100 %
Klippel-Feil syndrome Comprehensive panel.

By Connective Tissue Gene Tests (United States).

MYO18B, RIPPLY2, GDF3, GDF6, MEOX1
Specificity
60 %
Genes
100 %

We have 58 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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