Ankyloblepharon filiforme - imperforate anus
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Aughton-Hufnagle syndrome |
| Number of Symptoms | 5 |
| OrphanetNr: | 1074 |
| OMIM Id: |
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| ICD-10: |
Q87.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 families [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndrome or malformation associated with head and neck malformations
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease Syndromic ankyloblepharon -Rare eye disease -Rare genetic disease Syndromic anorectal malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000315) | Abnormality of the orbital region | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Occasional [Orphanet] | 298 / 7739 | |||
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(HPO:0009804) | Reduced number of teeth | Frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0000204) | Cleft upper lip | Occasional [Orphanet] | 193 / 7739 | |||
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(HPO:0002023) | Anal atresia | Very frequent [Orphanet] | 135 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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