Ankyloblepharon filiforme adnatum - cleft palate
General Information (adopted from Orphanet):
| Synonyms, Signs: |
AFA |
| Number of Symptoms | 10 |
| OrphanetNr: | 1072 |
| OMIM Id: |
106250
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| ICD-10: |
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| 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: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Orofacial clefting syndrome
-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 developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000174) | Abnormality of the palate | Occasional [Orphanet] | 298 / 7739 | |||
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(HPO:0009755) | Ankyloblepharon | 10 / 7739 | ||||
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(HPO:0000315) | Abnormality of the orbital region | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0000202) | Oral cleft | 120 / 7739 | ||||
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(HPO:0000204) | Cleft upper lip | Occasional [Orphanet] | 193 / 7739 | |||
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(HPO:0100267) | Lip pit | Occasional [Orphanet] | 9 / 7739 | |||
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(HPO:0009775) | Amniotic constriction ring | Occasional [Orphanet] | 21 / 7739 | |||
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(OMIM) | Congenital filiform eyelid fusion | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Cleft palate and/or cleft lip, together with congenital filiform fusion of the eyelids, has been observed in families. Khanna (1957) described affected sisters, one of whom had cleft lip and palate. Other familial cases were reported by Ehlers ... |