Isolated ankyloblepharon filiforme adnatum
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated ankyloblepharon filiforme adnatum | |
| fr | Ankyloblépharon filiforme adnatum isolé | |
| de | Ankyloblepharon filiforme adnatum, isoliertes | |
| es | Anquilobléfaron filiforme ad natum aislado | |
| it | Anchiloblefaron filiforme congenito isolato | |
| nl | Geïsoleerde ankyloblepharon filiforme adnatum | |
| pt | Anquiloblefaron filiforme adnatum isolado | |
| pl | Izolowany ankyloblepharon filiforme adnatum | |
| cs | Izolovaný adnátní filiformní ankyloblefaron | |
| uk | Ізольований анкілоблефарон filiforme adnatum | |
| zh | 孤立型丝状睑缘粘连 | |
| tr | İzole ankyloblepharon filiforme adnatum |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q10.3 | NTBT | attributed | validated |
| ICD-11 | LA14.07 | E | specific | validated |
| MONDO | 0019626 | E | validated | |
| MeSH | C536373 | E | validated | |
| UMLS | C1302999 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98564Eyelid border anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91397
- This record as JSON: /data/d/91397.json