Ausems Wittebol-Post Hennekam 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: 1995
Definition
Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy.
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.
| Non-midline cleft lip |
30%-79% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Congenital posterior urethral valve |
| Abnormality of retinal pigmentation |
| Recurrent bronchitis |
| Retinopathy |
| Visual impairment |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| Irregular sclerotic endplates |
| Recurrent Klebsiella infections |
| Metaphyseal dysostosis |
| Prostate neoplasm |
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