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| Name | Class |
|---|---|
| National Foundation of Ectodermal Dysplasia | UNKNOWN |
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This study is being done to collect information about people who have or may have Hypohidrotic Ectodermal Dysplasia (HED) or X-linked Hypohidrotic Ectodermal Dysplasia (XLHED). This study will allow Edimer Pharmaceuticals to know more about HED/XLHED so that hopefully the investigators can develop a drug to treat this condition. In this study Edimer will retrospectively review and abstract (summarize) medical records of people that have or may have HED/XLHED in order to further understand the natural history and disease characteristics.
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Inclusion Criteria:
-Males or females with:
the clinical characteristics of HED, including at least two of the following characteristics: a history of decreased sweating;abnormal teeth (fewer permanent teeth, teeth are smaller than average and often have conical crowns);sparseness of scalp and body hair.
-OR-
genetically confirmed HED or XLHED;
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The study will enroll up to fifty HED/XLHED affected individuals.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Edimer Pharmaceuticals | Cambridge | Massachusetts | 02142 | United States |
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| ID | Term |
|---|---|
| D053358 | Ectodermal Dysplasia 1, Anhidrotic |
| ID | Term |
|---|---|
| D004476 | Ectodermal Dysplasia |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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| D012868 | Skin Abnormalities |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D012873 | Skin Diseases, Genetic |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |