Posts Tagged ‘chromosome 2q defect

The most common type of ectodermal dysplasia is the anhidrotic/hypohidrotic type, known as Christ-Siemens-Touraine syndrome, in which there is a triad of dentition anomalies, partial or complete absence of the sweat glands, and hypotrichosis. First described by Thurman, the typical facies is characterized by frontal bossing, sparse, hypopig-mented hair, malar/midfacial hypoplasia, thick everted lips, a […]

INTRODUCTION Ectodermal dysplasias are a large group of disorders made up of over 150 different conditions characterized by common anomalies of at least two elements of the ectoderm and its appendages—namely, the skin, teeth, hair, nails and sweat glands. Most are classified as either the anhidrotic/hypohidrotic type or the hidrotic type. These disorders, although rare, […]