ORPHA:952
Acrofacial dysostosis, Weyers type
Synonyms: Curry-Hall syndrome · Weyers acrodental dysostosis · Weyers acrofacial dysostosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrofacial dysostosis, Weyers type | Curry-Hall syndrome · Weyers acrodental dysostosis · Weyers acrofacial dysostosis |
| fr | Dysostose acrofaciale type Weyers | Dysostose acrodentale de Weyers · Dysostose acrofaciale de Weyers |
| de | Dysostose, akrofaziale, Typ Weyers | Curry-Hall-Syndrom · Weyer-Dysostose, akrodentale |
| es | Disostosis acrofacial tipo Weyers | Disostosis acrodental de Weyer · Disostosis acrofacial de Weyer · Síndrome de Curry-Hall |
| it | Disostosi acrofacciale, tipo Weyers | Disostosi acrodentale di Weyers · Disostosi acrofacciale di Weyers · Sindrome di Curry-Hall |
| nl | Acrofaciale dysostose, Weyers-type | Syndroom van Curry-Hall · Weyers acrodentale dysostose · Weyers acrofaciale dysostose |
| pt | Disostose acrofacial, tipo Weyers | Disostose acrofacial de Weyers · Síndrome Curry-Hall |
| pl | Dyzostoza kończynowo-twarzowa typu Weyersa | Dyzostoza kończynowo-zębowa typu Weyersa · Dyzostoza kończynowo-zębowa Weyersa · Zespół Curry i Halla |
| cs | Akrofaciální dysostóza, Weyersův typu | Weyersova akrodentální dysostóza · Weyersova akrofaciální dysostóza · Curryův-Hallův syndrom · Curry-Hallův syndrom |
| uk | Акрофаціальний дизостоз, тип Вейерса | Синдром Каррі-Холла · Акродонтальний дизостоз Вейєра · Акрофаціальний дизостоз Вейєра |
| zh | 肢端面部骨发育不全，Weyers型 | 肢端面部骨发育不全，Weyers型 |
| tr | Akrofasiyal disostoz, Weyers tipi | Curry-Hall sendromu · Weyers akrodental dizostoz · Weyers akrofasiyal dizostoz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 193530 | E | validated | |
| ICD-10 | Q75.4 | NTBT | attributed | validated |
| ICD-11 | LD25.2 | NTBT | index | validated |
| MONDO | 0008673 | E | validated | |
| MeSH | C536695 | E | validated | |
| UMLS | C0457013 | E | validated | |
| GARD | 497 | 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:364574Acrofacial dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTNNB1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:2514 | ENSG00000168036 | 116806 | 3p22.1 | catenin beta 1 | 38173341[PMID] |
| EVC | Disease-causing germline mutation(s) in | Assessed | HGNC:3497 | ENSG00000072840 | 604831 | 4p16.2 | EvC ciliary complex subunit 1 | 10700184[PMID] |
| EVC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:19747 | ENSG00000173040 | 607261 | 4p16.2 | EvC ciliary complex subunit 2 | 23220543[PMID]_22791528[PMID]_16404586[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
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000190 | Abnormal oral frenulum morphology | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0006288 | Advanced eruption of teeth | |
| HP:0000698 | Conical tooth | |
| HP:0000668 | Hypodontia | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0003502 | Mild short stature | |
| HP:0008404 | Nail dystrophy | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0006315 | Single median maxillary incisor | |
| HP:0001792 | Small nail | |
| HP:0100797 | Toenail dysplasia | |
| Frequent (79-30%) | ||
| HP:0009738 | Abnormality of the antihelix | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002006 | Facial cleft | |
| HP:0010557 | Overlapping fingers | |
| HP:0200055 | Small hand | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/952
- This record as JSON: /data/d/952.json