Bork Stender Schmidt syndrome
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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: 1264
Definition
Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.
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.
| Uncombable hair |
| Hypotrichosis |
| Brachydactyly |
| Abnormality of retinal pigmentation |
| Juvenile cataract |
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Increased number of teeth |
| Oligodontia |
5%-29% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Short 5th metacarpal |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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