1. Mendelian
  2. Rare Diseases
  3. KINDLER SYNDROME; KNDLRS

Kindler Syndrome

Table of contents:

Description

Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.

Genes related to Kindler Syndrome

  • FERMT1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Kindler Syndrome

  • Anemia
  • Flexion contracture
  • Dysphagia
  • Syndactyly
  • Hyperkeratosis
  • Carcinoma
  • Erythema
  • Scarring
  • Camptodactyly of finger
  • Corneal opacity

And another 65 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.)
— No data available about the known clinical features onset.

Alternative names

Kindler Syndrome Is also known as poikiloderma, hereditary acrokeratotic, poikiloderma of kindler, poikiloderma, congenital, with bullae, weary type, bullous acrokeratotic poikiloderma of kindler and weary, ks.

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.

Kindler Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EBSeq Epidermolysis Bullosa Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
FERMT1 Gene Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

FERMT1
Specificity
100 %
Genes
100 %
FERMT1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

FERMT1
Specificity
100 %
Genes
100 %
EB (Epidermolysis Bullosa) Deletion/Duplication panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC
Specificity
5 %
Genes
100 %
FERMT1.

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

FERMT1
Specificity
100 %
Genes
100 %
Kindler syndrome (sequence analysis of FERMT1 gene).

By CGC Genetics (Portugal).

FERMT1
Specificity
100 %
Genes
100 %
Epidermolysis bullosa (NGS panel for 18 genes).

By CGC Genetics (Portugal).

DST, FERMT1, COL17A1, COL7A1, DSP, EXPH5, ITGA3, ITGA6, ITGB4, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PLEC
Specificity
6 %
Genes
100 %
Kindler syndrome (deletion/duplication analysis of FERMT1 gene).

By CGC Genetics (Portugal).

FERMT1
Specificity
100 %
Genes
100 %

You can get up to 18 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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