Ectodermal dysplasia and abnormal thumbs.
Two unrelated children, a girl and a boy, with alopecia, anomalous cutaneous pigmentation, abnormal thumbs, and endocrine disorders, including short stature and delayed bone age in one patient and juvenile onset diabetes mellitus in the other, are described. In one instance, the mother and the maternal grandmother had similar abnormalities, although of a less severe nature. Both children had normal nails and no unusual susceptibility to infections. We believe these two patients represent a previously undescribed syndrome of ectodermal dysplasia that may be inherited as an autosomal-dominant trait.
D000505:Alopecia / Q000235:genetics; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008297:Male; D010641:Phenotype; D010859:Pigmentation Disorders / Q000235:genetics; D013933:Thumb / Q000002:abnormalities*