Ectodermal Dysplasia 8, Hair/Tooth/Nail Type

Alternative Names

  • ECTD8
  • Fried's Tooth and Nail Syndrome
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

602401

Mode of Inheritance

Autosomal Recessive

Gene Map Locus

18q22.1-q22.3

Description

Ectodermal dysplasias form a heterogenous group of disorders characterized by anomalies of structures arising from the ectoderm. ECTD8 is an autosomal recessive condition in which affected patients display abnormal development of hair, teeth and nails.  

The condition has been mapped to an 8 Mb locus on the long arm of chromosome 18. However, the causal gene has not yet been identified. 

Epidemiology in the Arab World

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Other Reports

Egypt

Fried et al. (1977) described two double first cousins, from the Egyptian Karaite community, who presented with partial adontia, conical peg-shaped teeth, fine short hair, and eversion of lips. Both children were born of consanguineous unions, and teh parents were normal. 

Lebanon

Mégarbané et al. (1998) described two affected siblings born to second-cousin consanguineous parents. The patients showed severe hypodontia, fine hair and dysplastic nails. Seven other cousins and the patients' grandmother were all similarly affected, pointing to an autosomal recessive mode of inheritance.

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