Klippel-feil Syndrome 1, Autosomal Dominant; Kfs1

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.

Genes related to Klippel-feil Syndrome 1, Autosomal Dominant; Kfs1

GDF6
MEOX1
RIPPLY2

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Clinical Features

Top most frequent phenotypes and symptoms related to Klippel-feil Syndrome 1, Autosomal Dominant; Kfs1

Hearing impairment
Scoliosis
Sensorineural hearing impairment
Cleft palate
Macrocephaly
Ventricular septal defect
Short neck
Abnormality of cardiovascular system morphology
Conductive hearing impairment
Abnormality of the pinna

And another 29 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset, and congenital onset .

Alternative names

Klippel-feil Syndrome 1, Autosomal Dominant; Kfs1 Is also known as cervical vertebral fusion, autosomal dominant, kfs.

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.

Klippel-feil Syndrome 1, Autosomal Dominant; Kfs1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Leber Congenital Amaurosis Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, CLUAP1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, IFT140, LCA5, AIPL1, DTHD1, GDF6, GUCY2D, IMPDH1 , (...) View the complete list with 4 more genes Panel complete gene list RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, CLUAP1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, IFT140, LCA5, AIPL1, DTHD1, GDF6, GUCY2D, IMPDH1, KCNJ13, LRAT, OTX2, PRPH2 Specificity 5 % Genes 34 %
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 Panel complete gene list BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3, GDF6, GJA1, GLI3, ABCB6, HCCS, NHS, OTX2, PAX2, RARB Specificity 4 % Genes 34 %
GDF6 - Klippel Feil syndrome. By Centre of Molecular Diseases (CMM) CHUV (Switzerland). GDF6 Specificity 100 % Genes 34 %
GDF6. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). GDF6 Specificity 100 % Genes 34 %
Leber congenital amaurosis (NGS panel for 20 genes). By CGC Genetics (Portugal). RPE65, TULP1, RPGRIP1, NMNAT1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, LCA5, AIPL1, GDF6, GUCY2D, IMPDH1, KCNJ13, LRAT, OTX2, PRPH2 Specificity 5 % Genes 34 %
Klippel-Feil syndrome (sequence analysis of GDF6 gene). By CGC Genetics (Portugal). GDF6 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 Panel complete gene list BMP4, SHH, SIX6, SOX2, VAX1, MFRP, RAX, NAA10, VSX2, SMOC1, CHD7, BCOR, FREM1, TENM3, STRA6, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6, HCCS, HMGB3, MAB21L2, MITF, OTX2, RARB Specificity 4 % Genes 34 %
Klippel-Feil syndrome (NGS panel for 5 genes). By CGC Genetics (Portugal). MYO18B, RIPPLY2, GDF3, GDF6, MEOX1 Specificity 60 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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