Radial ray hypoplasia-choanal atresia syndrome
historical
Synonyms: Goldblatt-Viljoen syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare nose and cavum anomaly characterized by variable defects of the radial ray, concurrent choanal malformations and esotropia. Patients predominantly present with left radial ray hypoplasia, however the spectrum of radial ray involvement may range from totally absent radius, first metacarpal, and phalangeal bones to hypoplastic carpal and metacarpal bones and a triphalangeal thumb. There have been no further descriptions in the literature since 1987.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Radial ray hypoplasia-choanal atresia syndrome | Goldblatt-Viljoen syndrome |
| fr | Syndrome d'hypoplasie du rayon radial-atrésie des choanes | Syndrome de Goldblatt-Viljoen |
| de | Radiushypoplasie-Choanalatresie-Syndrom | Goldblatt-Viljoen-Syndrom |
| es | Síndrome de hipoplasia del eje radial-atresia de coanas | Síndrome de Goldblatt-Viljoen |
| it | Ipoplasia del radio - atresia delle coane | Sindrome di Goldblatt-Viljoen |
| nl | Hypoplasie van radiale straal - choane atresie-syndroom | Syndroom van Goldblatt-Viljoen |
| pt | Síndrome de hipoplasia do eixo radial-atresia das coanas | Síndrome Goldblatt-Viljoen |
| pl | Hipoplazja kości promieniowej - atrezja nozdrzy tylnych | Zespół Goldblatta i Viljoena |
| cs | Syndrom zahrnující hypoplázii radiálního paprsku a atrézii choan | Goldblattův-Viljoenův syndrom · Goldblatt-Viljoenův syndrom |
| uk | Синдром гіпоплазії променевої кістки-хоанальної атрезії | Синдром Гольдблатта-Вільоена |
| zh | 桡侧列发育不全-后鼻孔综合征 | Goldblatt-Viljoen综合征 |
| tr | Radyal ışın hipoplazisi-koanal atrezi sendromu | Goldblatt-Viljoen sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 179270 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008358 | E | validated | |
| MeSH | C537280 | E | validated | |
| UMLS | C2931464 | E | validated | |
| GARD | 4627 | 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 (4):
- ORPHA:435606Genetic nose and cavum anomaly
rare genetic diseases - ORPHA:156246Nose and cavum anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3425633[PMID] |
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 3425633[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3026
- This record as JSON: /data/d/3026.json