Ankyloblepharon filiforme adnatum-imperforate anus syndrome
historical
Synonyms: Aughton-Hufnagle syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- historical
A 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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ankyloblepharon filiforme adnatum-imperforate anus syndrome | Aughton-Hufnagle syndrome |
| fr | Syndrome d'ankyloblépharon filiforme-imperforation anale | Syndrome d'Aughton-Hufnagle |
| de | Ankyloblepharon filiformis adnatum-Anus imperforatus-Syndrom | Aughton-Hufnagle-Syndrom |
| es | Síndrome de anquilobléfaron filiforme congénito-ano imperforado | Síndrome de Aughton-Hufnagle |
| it | Sindrome anchiloblefaron filiforme congenito e ano imperforato | Sindrome di Aughton-Hufnagle |
| nl | Ankyloblepharon filiforme adnatum - anusatresie-syndroom | Syndroom van Aughton-Hufnagle |
| pt | Síndrome de anquiloblefaro filiforme congénito-ânus imperforado | |
| pl | Wrodzony nitkowaty zrost brzegów powiek - niedrożność odbytu | Zespół Aughtona i Hufnagle'a |
| cs | Syndrom zahrnující ankyloblefaron filiforme a atrézii anu | Aughtonův-Hufnagleho syndrom · Aughton-Hufnagleho syndrom |
| uk | Синдром ankyloblepharon filiforme adnatum (AFA) з неперфорованим анусом | Синдром Аутона-Хафнагла |
| zh | 丝状睑缘粘连-肛门闭锁综合征 | Aughton-Hufnagle综合征 |
| tr | Ankiloblefaron filiforme adnatum-imperfore anüs sendromu | Aughton-Hufnagle sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | attributed | validated |
| MONDO | 0015201 | E | validated | |
| UMLS | C4751231 | E | validated | |
| GARD | 697 | 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 (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.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 8135297[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8135297[PMID] |
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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009755 | Ankyloblepharon | |
| HP:0000028 | Cryptorchidism | |
| Frequent (79-30%) | ||
| HP:0009804 | Tooth agenesis | |
| Occasional (29-5%) | ||
| HP:0000175 | Cleft palate | |
| HP:0100335 | Non-midline cleft of the upper lip | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1074
- This record as JSON: /data/d/1074.json