Rare Diseases Symptoms Automatic Extraction

Phenotypic findings in Chinese families with X-linked hypohydrotic ectodermal dysplasia.


To summarize the phenotypic characters of Chinese X-linked hypohidrotic ectodermal dysplasia (XLHED) subjects.Twelve affected and 24 carriers from seven Chinese pedigrees were recruited. The development of their hair, tooth, skin and sweat gland was (semi-)quantitatively evaluated. From 100 to 250 normal controls were used to exclude polymorphisms in each family.Different from the previous reports, these Chinese subjects had more symmetrical and severe oligodontia. The mean number of permanent teeth missing was 23.5, and mandibular molars were preferentially affected. Compared to the age- and gender-matching controls, the affected had evident deep and well-defined facial wrinkles especially in the forehead, periorbital and cheek. Missing anterior teeth, conical canines and slow growth of hair were the main findings of female carriers. In addition, there was no evident relationship between phenotype and genotype.To the best of our knowledge, this was the first semi-quantitative phenotypic report of subjects of Chinese descent.