Bencze syndrome
historical
Synonyms: Hemifacial hyperplasia-strabismus syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- historical
Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bencze syndrome | Hemifacial hyperplasia-strabismus syndrome |
| fr | Syndrome de Bencze | Syndrome d'hyperplasie hémifaciale-strabisme |
| de | Bencze-Syndrom | Hemifaziale Hyperplasie mit Stratumbildung |
| es | Síndrome de Bencze | Hiperplasia hemifacial-estratoísmo |
| it | Sindrome di Bencze | Iperplasia emifacciale - strabismo |
| nl | Syndroom van Bencze | Hemifaciale hyperplasie - strabisme-syndroom |
| pt | Síndrome Bencze | |
| pl | Zespół Bencze | Przerost połowiczy twarzy - zez |
| cs | Benczeho syndrom | Syndrom zahrnující hemifaciální hyperplázii a strabismus |
| uk | Синдром Бенче | Синдром косоокості з гіперплазією лицевого нерва |
| zh | Bencze综合征 | 半面过度增生-斜视综合征 |
| tr | Bencze sendromu | Hemifasiyal hiperplazi-şaşılık sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 141350 | E | validated | |
| ICD-10 | Q67.4 | NTBT | attributed | validated |
| MONDO | 0007711 | E | validated | |
| MeSH | C564199 | E | validated | |
| UMLS | C1841640 | E | validated | |
| GARD | 2633 | 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: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 - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic 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 | 2 families | Worldwide | Family(ies) | Validated | 519901[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_519901[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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005325 | Extension of hair growth on temples to lateral eyebrow | |
| HP:0000324 | Facial asymmetry | |
| Frequent (79-30%) | ||
| HP:0000646 | Amblyopia | |
| HP:0010807 | Open bite | |
| HP:0000486 | Strabismus | |
| HP:0000506 | Telecanthus | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0000176 | Submucous cleft hard palate | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1241
- This record as JSON: /data/d/1241.json