Cerebellar ataxia ectodermal dysplasia
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1174
Definition
Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.
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.
Click on a symptom to see definitions for associated terms.
| Fine hair |
| Triangular face |
| Absent speech |
| Gait disturbance |
| Intestinal hypoplasia |
| Subchorionic septal cyst |
| Ataxia |
| Hypodontia |
| Microdontia |
| Sparse hair |
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Intestinal pseudo-obstruction |
| Miosis |
| Cryptorchidism |
| Functional abnormality of the bladder |
| Broad forehead |
| Inguinal hernia |
| Neurological speech impairment |
| Pes cavus |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
Fairview Heights, IL, 62258-1360, United States Phone: +1-618-566-2020 Fax : +1-618-566-4718 Email: info@nfed.org Url: https://www.nfed.org/
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