ORPHA:1072
Ankyloblepharon filiforme adnatum-cleft palate syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ankyloblepharon filiforme adnatum-cleft palate syndrome | |
| fr | Syndrome d'ankyloblépharon filiforme-fente palatine | |
| de | Ankyloblepharon filiformis-Gaumenspalte-Syndrom | |
| es | Síndrome de anquilobléfaron filiforme adnatum-paladar hendido | Anquilobléfaron filiforme adnatum |
| it | Sindrome da anchiloblepharon filiforme congenito e palatoschisi | |
| nl | Ankyloblepharon filiforme adnatum - gespleten verhemelte-syndroom | |
| pt | Síndrome de anquiloblefaro filiforme congénito-fenda palatina | |
| pl | Wrodzony nitkowaty zrost brzegów powiek - rozszczep podniebienia | |
| cs | Syndrom zahrnující ankyloblefaron filiforme adnatum a rozštěp patra | |
| uk | Синдром ankyloblepharon filiforme adnatum (AFA) та розщілини піднебіння | |
| zh | 丝状睑缘粘连-腭裂综合征 | |
| tr | Ankiloblefaron filiforme adnatum-yarık damak sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 106250 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007123 | E | validated | |
| UMLS | C1862866 | E | validated | |
| GARD | 696 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:1071Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare ophthalmic disorders; rare bone diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TP63 | Disease-causing germline mutation(s) in | Assessed | HGNC:15979 | ENSG00000073282 | 603273 | 3q28 | tumor protein p63 | 32953416[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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.
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HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009755 | Ankyloblepharon | |
| Occasional (29-5%) | ||
| HP:0009775 | Amniotic constriction ring | |
| HP:0000175 | Cleft palate | |
| HP:0100267 | Lip pit | |
| HP:0100335 | Non-midline cleft of the upper lip | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1072
- This record as JSON: /data/d/1072.json