Absent radius-anogenital anomalies syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- historical
A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Absent radius-anogenital anomalies syndrome | |
| fr | Syndrome d'absence de radius-anomalies anogénitales | |
| de | Fehlender Radius-anogenitalen Anomalien-Syndrom | |
| es | Síndrome de radio ausente-anomalías anogenitales | |
| it | Sindrome da agenesia del radio ed anomalie anogenitali | |
| nl | Afwezige radius - anogenitale anomalieën-syndroom | |
| pt | Síndrome de ausência de rádio-anomalias ano-genitais | |
| pl | Brak kości promieniowej - anomalie odbytu i narządów płciowych | |
| cs | Syndrom zahrnující chybějící radius a anogenitální anomálie | |
| uk | Синдром відсутності променевої кістки-аногенітальних аномалій | |
| zh | 无桡骨-肛门生殖器畸形综合征 | |
| tr | Radyus yokluğu-anogenital anomali sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 312190 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010718 | E | validated | |
| MeSH | C535281 | E | validated | |
| UMLS | C4749807 | E | validated | |
| GARD | 4633 | 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 (2):
- ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone 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 cases | Worldwide | Case(s) | Validated | 8456854[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8456854[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
9 annotations · validated 2017-09-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100257 | Ectrodactyly | |
| HP:0000238 | Hydrocephalus | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0012165 | Oligodactyly | |
| HP:0001562 | Oligohydramnios | |
| Frequent (79-30%) | ||
| HP:0002023 | Anal atresia | |
| HP:0004871 | Perineal fistula | |
| HP:0025023 | Rectal atresia | |
| HP:0000143 | Rectovaginal fistula | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3016
- This record as JSON: /data/d/3016.json