Acrorenal syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrorenal syndrome | |
| fr | Syndrome acro-rénal | |
| de | Akrorenales Syndrom | |
| es | Síndrome acrorrenal | |
| it | Sindrome acrorenale | |
| nl | Acrorenaal syndroom | |
| pt | Síndrome acro-renal | |
| pl | Zespół kończynowo-nerkowy | |
| cs | Akrorenální syndrom | |
| uk | Акроренальний синдром | |
| zh | 肢端肾综合征 | |
| tr | Akrorenal sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 102520 | E | validated | |
| OMIM | 201310 | BTNT | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007059 | E | validated | |
| MeSH | C563159 | E | validated | |
| UMLS | C3495490 | E | validated | |
| GARD | 514 | 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: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 | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012210 | Abnormal renal morphology | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0001171 | Split hand | |
| Frequent (79-30%) | ||
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0000083 | Renal insufficiency | |
| Occasional (29-5%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0000175 | Cleft palate | |
| HP:0000347 | Micrognathia | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/971
- This record as JSON: /data/d/971.json