ADULT syndrome
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 978
Definition
A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
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30%-79% of people have these symptoms.
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5%-29% of people have these symptoms.
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| Prominent nasal bridge |
| Optic nerve coloboma |
| Ophthalmoparesis |
| Wide nasal bridge |
An unknown % of people have these symptoms.
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