Ankyloblepharon filiforme imperforate anus
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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: 1074
Definition
An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.
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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| Ankyloblepharon |
| Cryptorchidism |
30%-79% of people have these symptoms.
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| Abnormality of fibula morphology |
| Reduced number of teeth |
5%-29% of people have these symptoms.
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| Redundant neck skin |
| Non-midline cleft lip |
| Cleft palate |
An unknown % of people have these symptoms.
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| Microcolon |
| Progressive fusion 2nd-5th pip joints |
| Ulnar deviation of the 2nd finger |
| Hemangioblastoma |
| Irregular sclerotic endplates |
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