Don’t fight Cerebellar ataxia ectodermal dysplasia alone.
Find your community on the free RareGuru App.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
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.
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