| Ectodermal dysplasia | |
|---|---|
 | |
| A patient displaying peg-shaped teeth and sparse hair characteristic of ectodermal dysplasia. | |
| 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]
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Pinheiro M, Freire-Maia N (November 1994). "Ectodermal dysplasias: a clinical classification and a causal review". Am. J. Med. Genet. 53 (2): 153–62. doi:10.1002/ajmg.1320530207. PMID 7856640.