Category: Ectodermal Dysplasia Syndromes

Ellis-van Creveld syndrome Referenced from U.S. National Library of Medicine (1) What is Ellis-van Creveld syndrome? Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is […]

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Hypohidrotic ectodermal dysplasia (HED) Referenced from U.S. National Library of Medicine (1) What is hypohidrotic ectodermal dysplasia? Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands. Most people with hypohidrotic […]

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Referenced from U.S. National Library of Medicine (1) and European Journal of Human Genetics (2) with additional original material What is ADULT? Acro-Dermato-Ungual-Lacrimal-Tooth (ADULT) syndrome is one of about 150 identified forms of ectodermal dysplasia, which are characterized by the prenatal abnormal development of structures including the skin, hair, nails, teeth, and sweat glands. Individuals […]

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Referenced from U.S. National Library of Medicine (1) Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC), also known as Hay-Wells syndrome (HWS) is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands. Infants born with […]

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Hypohidrotic ectodermal dysplasia (HED) Referenced from U.S. National Library of Medicine (1) What is hypohidrotic ectodermal dysplasia? Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands. Most people with hypohidrotic […]

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