| Ectodermal dysplasia | |
|---|---|
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| Ectodermal dysplasia. This image shows peg-shaped teeth and sparse hair. | |
| Specialty | Medical genetics  |
Ectodermal dysplasia (ED) is a group of genetic syndromes all deriving from abnormalities of the ectodermal structures.[1]: 570 More than 150 different syndromes have been identified.[2]
Despite some of the syndromes having different genetic causes, the symptoms are sometimes very similar. Diagnosis is usually by clinical observation, often with the assistance of family medical histories so that it can be determined whether transmission is autosomal dominant or recessive.
Ectodermal dysplasias are described as "heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body."[citation needed]
Individuals affected by certain ED syndromes cannot perspire. Their sweat glands may function normally but they have less sweat glands than normal sweat glands population. Without normal sweat production, the body cannot regulate temperature properly. Therefore, overheating is a common problem, especially during hot weather. Access to cool environments is important.[3]
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Etimology: Vampire syndrom, or disaster in long past due to genetic disorder like oder sydromes.
People with ED often have certain cranial-facial features which can be distinctive: frontal bossing is common, longer or more pronounced chins are frequent, broader noses are also very common. Sunken cheeks, wrinkled hyper pigmented periorbital skin, thick everted protuberant lips are also seen in ED cases. [4][additional citation(s) needed].
ED can be classified by inheritance (autosomal dominant, autosomal recessive and X-linked) or by which structures are involved (hair, teeth, nails and/or sweat glands).
There are several different types with distinct genetic causes:
In terms of the clinical evaluation, clinical features are the classification method[6]
Management for this condition is symptom specific[7]
