Category: Ectodermal Dysplasia Syndromes

Zanier-Roubicek has been classified as a possible form of autosomal dominant hypohidrotic ectodermal dysplasia. Autosomal dominant (versus autosomal recessive) means the affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. (In contrast, autosomal recessive diseases require that the individual have two copies of the mutant […]

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Rothmund-Thomson Syndrome (RTS) Referenced from the Texas Children’s Hospital (1) and the Rothmund-Thomson Syndrome Foundation (2) What is Rothmund-Thomson Syndrome? Rothmund-Thomson Syndrome (RTS) is one of about 150 known types of ectodermal dysplasia syndromes. RTS is an extremely rare genetic disorder most commonly diagnosed in infants between three and six months old who display a […]

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Oculodentodigital dysplasia (ODD) Referenced from U.S. National Library of Medicine (1) What is oculodentodigital dysplasia? Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are small eyes (microphthalmia) and other eye abnormalities that can lead to […]

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Limb-mammary syndrome (LMS) Referenced from U.S. National Library of Medicine (1) and Online Mendelian Inheritance in Man (2) Limb-mammary syndrome (LMS) 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. Individuals diagnosed with […]

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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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Focal dermal hypoplasia (FDH) Referenced from U.S. National Library of Medicine (1) What is focal dermal hypoplasia? Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, […]

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Focal dermal hypoplasia (FDH) Referenced from U.S. National Library of Medicine (1) What is focal dermal hypoplasia? Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, […]

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Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome (EEC) Referenced from U.S. National Library of Medicine (1) and Healthline (2) Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome (EEC) 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. Individuals diagnosed with EEC experience […]

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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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