Blepharophimosis with ptosis, syndactyly, and short stature
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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: 2057
Definition
A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.
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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| Short stature |
5%-29% of people have these symptoms.
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| Hypertelorism |
| Anterior subcapsular cataract |
| Restricted neck movement due to contractures |
| Anosmia |
| Intellectual disability, borderline |
| Thick lower lip vermilion |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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