Ehlers-danlos Syndrome, Kyphoscoliotic And Deafness Type

Description

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

Clinical Features

Top most frequent phenotypes and symptoms related to Ehlers-danlos Syndrome, Kyphoscoliotic And Deafness Type

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture
  • Motor delay
  • Epicanthus
  • Myopia

And another 44 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 neonatal onset, and childhood onset .

Alternative names

Ehlers-danlos Syndrome, Kyphoscoliotic And Deafness Type Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness, edskmh, eds with progressive kyphoscoliosis, myopathy, and deafness, eds, kyphoscoliotic and he.

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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Ehlers-danlos Syndrome, Kyphoscoliotic And Deafness Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Connective Tissue Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
FKBP14 related Ehlers-Danlos syndrome.

By Collagen Diagnostic Laboratory University of Washington (United States).

FKBP14
Specificity
100 %
Genes
100 %
Comprehensive Ehlers-Danlos Syndrome Panel.

By Collagen Diagnostic Laboratory University of Washington (United States).

C1R, C1S, FKBP14, SLC39A13, ADAMTS2, COL1A2, COL3A1, COL5A1, COL5A2, CHST14, ATP7A, PLOD1
Specificity
9 %
Genes
100 %
Connective Tissue Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, ACTA2, SLC2A10, CBS, B3GALT6, FKBP14, SLC39A13, ADAMTS2, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Familial Aneurysm and Aortopathy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, ACTA2, SLC2A10, CBS, B3GALT6, FKBP14, SLC39A13, ADAMTS2, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
FKBP14.

By Institute for Human Genetics University Clinic Freiburg (Germany).

FKBP14
Specificity
100 %
Genes
100 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %

We have 52 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 Symptoms Checker

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