Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive; Ectd11b

Description

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

Clinical Features

Top most frequent phenotypes and symptoms related to Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive; Ectd11b

  • Depressed nasal bridge
  • Fever
  • Recurrent respiratory infections
  • Hyperhidrosis
  • Respiratory tract infection
  • Sparse hair
  • Hypotrichosis
  • Dry skin
  • Thick vermilion border
  • Everted lower lip vermilion

And another 21 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

Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive; Ectd11b Is also known as eda, ectodermal dysplasia, hypohidrotic, hed, ectodermal dysplasia, anhidrotic.

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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Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive; Ectd11b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EDARADD Gene Sequencing.

By GeneDx (United States).

EDARADD
Specificity
100 %
Genes
100 %
TP63,EDA,EDAR,EDARADD,WNT10A, NextGeneDx.Complete sequencing by NGS.

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

WNT10A, EDARADD, TP63, EDAR, EDA
Specificity
20 %
Genes
100 %
EDARADD. Complete sequencing.

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

EDARADD
Specificity
100 %
Genes
100 %
Ectodermal dysplasia 1, hypohidrotic, X-linked (deletion/duplication analysis of genes EDA, EDAR, EDARADD and WNT10A).

By CGC Genetics (Portugal).

WNT10A, EDARADD, EDAR, EDA
Specificity
25 %
Genes
100 %
Anhidrotic ectodermal dysplasia (sequence analysis of EDARADD gene).

By CGC Genetics (Portugal).

EDARADD
Specificity
100 %
Genes
100 %
Ectodermal dysplasia (NGS panel for 8 genes).

By CGC Genetics (Portugal).

EDARADD, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1
Specificity
13 %
Genes
100 %
Ectodermal dysplasia (NGS panel for 8 genes).

By CGC Genetics (Portugal).

EDARADD, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1
Specificity
13 %
Genes
100 %
Ectodermal Dysplasia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

WNT10A, EDARADD, EDAR, EDA, KRT85, NECTIN1
Specificity
17 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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