Cerebellar ataxia ectodermal dysplasia
Don’t fight Cerebellar ataxia ectodermal dysplasia alone.
Find your community on the free RareGuru App.Connect with other caregivers and patients with Cerebellar ataxia ectodermal dysplasia and get the support you need.
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/
Connect with other users with Cerebellar ataxia ectodermal dysplasia on the RareGuru app
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
