Klippel-feil Syndrome 2, Autosomal Recessive; Kfs2

Description

Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004).Clarke et al. (1998) proposed a classification system for KFS in which an autosomal recessive form is characterized by the most rostral fusion at C1 and the presence of severe associated anomalies, including short neck, cardiac defects, and craniofacial anomalies.For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Klippel-feil Syndrome 2, Autosomal Recessive; Kfs2

  • Pica
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate
  • Short neck
  • Ventricular septal defect
  • Polydactyly
  • Conductive hearing impairment
And another 17 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Klippel-feil Syndrome 2, Autosomal Recessive; Kfs2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Klippel-Feil syndrome (NGS panel for 5 genes).

By CGC Genetics in Portugal.

GDF6, GDF3, MEOX1, RIPPLY2, MYO18B
Specificity
40 %
Genes
100 %
Spondylocostal dysostosis (NGS panel of 6 genes).

By CGC Genetics in Portugal.

MESP2, HES7, LFNG, DLL3, RIPPLY2, TBX6
Specificity
17 %
Genes
50 %
Spondylocostal dysostosis (NGS panel of 6 genes).

By CGC Genetics in Portugal.

MESP2, HES7, LFNG, DLL3, RIPPLY2, TBX6
Specificity
17 %
Genes
50 %
Klippel-Feil syndrome (NGS panel for 5 genes).

By CGC Genetics in Portugal.

GDF6, GDF3, MEOX1, RIPPLY2, MYO18B
Specificity
40 %
Genes
100 %
Spondylocostal dysostosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

MESP2, HES7, LFNG, DLL3, RIPPLY2, TBX6
Specificity
17 %
Genes
50 %
Spondylocostal dysostosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

MESP2, HES7, LFNG, DLL3, RIPPLY2, TBX6
Specificity
17 %
Genes
50 %
Spondylocostal dysostosis NGS panel.

By Connective Tissue Gene Tests in United States.

MESP2, HES7, LFNG, DLL3, RIPPLY2, TBX6
Specificity
17 %
Genes
50 %
Klippel-Feil syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GDF6, GDF3, MEOX1, RIPPLY2, MYO18B
Specificity
40 %
Genes
100 %
Klippel-Feil syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

GDF6, GDF3, MEOX1, RIPPLY2, MYO18B
Specificity
40 %
Genes
100 %
Klippel-Feil syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GDF6, GDF3, MEOX1, RIPPLY2, MYO18B
Specificity
40 %
Genes
100 %
MEOX1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MEOX1
Specificity
100 %
Genes
50 %
Klippel-Feil syndrome 2 (sequence analysis of MEOX1 gene).

By CGC Genetics in Portugal.

MEOX1
Specificity
100 %
Genes
50 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
50 %
Klippel-Feil Syndrome via MEOX1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MEOX1
Specificity
100 %
Genes
50 %
Klippel-feil syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

GDF6, GDF3, MEOX1, MYO18B
Specificity
25 %
Genes
50 %
Klippel-Feil syndrome type 2, autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

MEOX1
Specificity
100 %
Genes
50 %
Single gene testing MEOX1.

By CeGaT GmbH in Germany.

MEOX1
Specificity
100 %
Genes
50 %
Selected Genetic Syndromes with skeletal involvement Panel.

By CeGaT GmbH in Germany.

RECQL4, LMX1B, FGFR3, CREBBP, FGFR2, CDKN1C, CENPJ, SALL1, CEP152, PCNT, ATR, GDF6, SH3PXD2B, DNA2, FGF10, SALL4, TBX5, EP300, RBBP8, GDF3 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Klippel-Feil Syndrome.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

GDF6, GDF3, MEOX1, PAX1
Specificity
25 %
Genes
50 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
50 %
Isolated Klippel-Feil syndrome type 1.

By Bioarray in Spain.

MEOX1
Specificity
100 %
Genes
50 %
KLIPPEL-FEIL SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

GDF6, GDF3, MEOX1, MYO18B, PAX1
Specificity
20 %
Genes
50 %
Klippel-Feil Syndrome Type 2 , Sequencing MEOX1 Gene.

By Reference Laboratory Genetics in Spain.

MEOX1
Specificity
100 %
Genes
50 %
Klippel-Feil Syndrome , Panel Massive Sequencing (NGS) GDF3, GDF6, MEOX1 Genes.

By Reference Laboratory Genetics in Spain.

GDF6, GDF3, MEOX1
Specificity
34 %
Genes
50 %

Alternate names

Klippel-feil Syndrome 2, Autosomal Recessive; Kfs2 Is also known as kfs, autosomal recessive, cervical vertebral fusion, autosomal recessive.


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