ORPHA:1071
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Synonyms: AEC syndrome · Hay-Wells syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | AEC syndrome · Hay-Wells syndrome |
| fr | Syndrome d'ankyloblépharon-anomalies ectodermiques-fente labiopalatine | Syndrome AEC · Syndrome de Hay-Wells |
| de | Ankyloblepharon-ektodermale Defekte-Lippen-Kiefer-Gaumenspalte-Syndrom | AEC-Syndrom · Hay-Wells-Syndrom |
| es | Síndrome de anquilobléfaron-displasia ectodérmica-fisura labiopalatina | Síndrome de Hay-Wells |
| it | Sindrome da anchiloblefaron, difetti ectodermici e labio/palatoschisi | Sindrome AEC · Sindrome di Hay-Wells |
| nl | Ankyloblefaron - ectodermale defecten - gespleten lip/verhemelte-syndroom | AEC-syndroom · Syndroom van Hay-Wells |
| pt | Síndrome de anquiloblefaro-defeitos ectodérmicos-fenda lábio-palatina | Síndrome AEC · Síndrome Hay-Wells |
| pl | Zarośnięcie brzegów powiek - zaburzenia ektodermalne - rozszczep wargi/podniebienia | Zespół AEC · Zespół Haya i Wellsa |
| cs | Syndrom zahrnující ankyloblefaron, ektodermální defekty a rozštěp rtu/patra | AEC syndrom · Hayův-Wellsův syndrom · Hay-Wellsův syndrom |
| uk | Синдром анкілоблефарону - ектодермальних дефектів - розщілини губи/піднебіння | Синдром АЕС · Синдром Хей-Уеллса |
| zh | 睑缘粘连-外胚层发育不良-唇/腭裂综合征 | Hay-Wells综合征 |
| tr | Ankiloblefaron-ektodermal defektler-yarık dudak / damak sendromu | AEC sendromu · Hay-Wells sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 106260 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007124 | E | validated | |
| MeSH | C535847 | E | validated | |
| UMLS | C0406709 | E | validated | |
| GARD | 6571 | 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 (6):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
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 - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:98565Syndromic ankyloblepharon filiforme adnatum
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
Codes that Orphanet moved or referred to this one:
- ORPHA:3022Rapp-Hodgkin syndrome moved to · inactive
- ORPHA:99694Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome moved to · inactive
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Genes
0 direct · 1 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| TP63 | ORPHA:1072Ankyloblepharon filiforme adnatum-cleft palate syndrome | 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
59 annotations · validated 2026-06-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001092 | Absent lacrimal punctum | |
| HP:0002299 | Brittle hair | |
| HP:0002208 | Coarse hair | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0001019 | Erythroderma | |
| HP:0002213 | Fine hair | |
| HP:0007513 | Generalized hypopigmentation | |
| HP:0011358 | Generalized hypopigmentation of hair | |
| HP:0004528 | Generalized hypotrichosis | |
| HP:0001510 | Growth delay | |
| HP:0001795 | Hyperconvex nail | |
| HP:0000668 | Hypodontia | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0008404 | Nail dystrophy | |
| HP:0100699 | Scarring | |
| HP:0000322 | Short philtrum | |
| HP:0200041 | Skin erosion | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000653 | Sparse eyelashes | |
| HP:0008070 | Sparse hair | |
| HP:0000963 | Thin skin | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0030056 | Uncombable hair | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000687 | Widely spaced teeth | |
| Frequent (79-30%) | ||
| HP:0005709 | 2-3 toe cutaneous syndactyly | |
| HP:0009755 | Ankyloblepharon | |
| HP:0001798 | Anonychia | |
| HP:0410030 | Cleft lip | |
| HP:0000175 | Cleft palate | |
| HP:0000750 | Delayed speech and language development | |
| HP:0033665 | Diminished health-related quality of life | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0034542 | Hairshafts with longitudinal grooves | |
| HP:0001765 | Hammertoe | |
| HP:0000966 | Hypohidrosis | |
| HP:0000047 | Hypospadias | |
| HP:0000564 | Lacrimal duct atresia | |
| HP:0011074 | Localized hypoplasia of dental enamel | |
| HP:0000347 | Micrognathia | |
| HP:0004552 | Scarring alopecia of scalp | |
| HP:0001831 | Short toe | |
| HP:0001792 | Small nail | |
| HP:0200141 | Small, conical teeth | |
| HP:0000211 | Trismus | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0011939 | 3-4 finger cutaneous syndactyly | |
| HP:6000648 | 3-4 toe cutaneous syndactyly | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0010055 | Broad hallux | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000378 | Cupped ear | |
| HP:0100257 | Ectrodactyly | |
| HP:0000160 | Narrow mouth | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0009465 | Ulnar deviation of finger | |
| Very rare (<4-1%) | ||
| HP:0000054 | Micropenis | |
| HP:0002558 | Supernumerary nipple | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 19676059[PMID]_20556892[PMID]_19681142[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1071
- This record as JSON: /data/d/1071.json