Abstract: Objective: To analyze the phenotype, genotype and genetic characters of ectodermal dysplasia pedigree. Methods: The ectodermal dysplasia pedigree was reported through the identified proband. All family members were interviewed and had comprehensive clinical examination. The nucleotide sequence in open reading frame of EDRA gene was studied by direct sequencing. Results: The pedigree was transmitted through autosomal dominant manner. Patients had characteristic features of ectodermal dysplasia. There was no mutation in EDAR gene. Conclusion: This family showed typical phenotype of ectodermal dysplasia. The EDAR gene was excluded for the causative gene.

Key words: Ectodermal dysplasia, Genealogical investigation , Phenotype , Genotype , Genetic characters