Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive; Ectd10b

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 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 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive; Ectd10b

  • Depressed nasal bridge
  • Hypertension
  • Frontal bossing
  • Hyperhidrosis
  • Hyperkeratosis
  • Sparse hair
  • Hypotrichosis
  • Short distal phalanx of finger
  • Thick vermilion border
  • Everted lower lip vermilion

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.)
No data available about the known clinical features onset.

Alternative names

Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive; Ectd10b 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 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive; Ectd10b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
EDAR.

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

EDAR
Specificity
100 %
Genes
34 %
EDAR Gene Sequencing.

By GeneDx (United States).

EDAR
Specificity
100 %
Genes
34 %
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
40 %
Genes
67 %
EDAR. Complete sequencing.

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

EDAR
Specificity
100 %
Genes
34 %
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
50 %
Genes
67 %
Anhidrotic ectodermal dysplasia (sequence analysis of EDAR gene).

By CGC Genetics (Portugal).

EDAR
Specificity
100 %
Genes
34 %
Ectodermal dysplasia (NGS panel for 8 genes).

By CGC Genetics (Portugal).

EDARADD, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1
Specificity
25 %
Genes
67 %
Ectodermal dysplasia (NGS panel for 8 genes).

By CGC Genetics (Portugal).

EDARADD, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1
Specificity
25 %
Genes
67 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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