Radio-renal syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Radio-renal syndrome | |
| fr | Syndrome radio-rénal | |
| de | Radial-renales Syndrom | |
| es | Síndrome radio-renal | |
| it | Sindrome radio-renale | |
| nl | Radio-renaal syndroom | |
| pt | Síndrome radio-renal | |
| pl | Zespół promieniowo-nerkowy | |
| cs | Radiorenální syndrom | |
| uk | Радіоренальний синдром | |
| zh | 桡骨-肾综合征 | |
| tr | Radyo-renal sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 179280 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008359 | E | validated | |
| MeSH | C536267 | E | validated | |
| UMLS | C2931146 | E | validated | |
| GARD | 224 | 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:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
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 | 4 cases | Worldwide | Case(s) | Validated | 7363497[PMID]_6829604[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7363497[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
24 annotations · validated 2017-09-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0001156 | Brachydactyly | |
| HP:0010310 | Chylothorax | |
| HP:0000444 | Convex nasal ridge | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002094 | Dyspnea | |
| HP:0002705 | High, narrow palate | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0000347 | Micrognathia | |
| HP:0002983 | Micromelia | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0002202 | Pleural effusion | |
| HP:0000104 | Renal agenesis | |
| HP:0000110 | Renal dysplasia | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0002098 | Respiratory distress | |
| HP:0002878 | Respiratory failure | |
| HP:0000278 | Retrognathia | |
| HP:0003510 | Severe short stature | |
| HP:0000470 | Short neck | |
| HP:0004279 | Short palm | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3015
- This record as JSON: /data/d/3015.json