1. Mendelian
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  3. ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13

Ectodermal Dysplasia 13, Hair/tooth Type; Ectd13

Table of contents:

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. Ectodermal dysplasia-13 of the hair/tooth type is characterized by severe oligodontia accompanied by anomalies of hair and skin (Issa et al., 2016).

Genes related to Ectodermal Dysplasia 13, Hair/tooth Type; Ectd13

  • KREMEN1

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Clinical Features

Top most frequent phenotypes and symptoms related to Ectodermal Dysplasia 13, Hair/tooth Type; Ectd13

  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Wide nasal bridge
  • Downslanted palpebral fissures
  • Wide nose
  • Thick vermilion border
  • Hypodontia
  • Ectodermal dysplasia
  • Low anterior hairline

And another 5 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.

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.

Ectodermal Dysplasia 13, Hair/tooth Type; Ectd13 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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BRAF, BRCA1, BRCA2, ARID1A, TP53, USP16, MAS1L, CCNE1, CBLC, KREMEN1, CDKN2A, CSMD3, FAT3, CDK12, CTNNB1, CUBN, EGFR, ERBB2, AKT1, GABRA6 , (...)

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Specificity
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Genes
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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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