Acro-renal-mandibular syndrome
Synonyms: Split hand/split foot-mandibular hypoplasia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acro-renal-mandibular syndrome | Split hand/split foot-mandibular hypoplasia syndrome |
| fr | Syndrome acrorénomandibulaire | Syndrome de mains et pieds fendus-hypoplasie mandibulaire |
| de | Akro-reno-mandibuläres Syndrom | Spalthand/Spaltfuß - Hypoplasie, mandibuläre |
| es | Síndrome acro-reno-mandibular | |
| it | Sindrome acro-reno-mandibolare | Schisi delle mani e dei piedi - ipoplasia mandibolare |
| nl | Acro-renaal-mandibulair syndroom | Gespleten hand/gespleten voet - mandibulaire hypoplasie-syndroom |
| pt | Síndrome acro-reno-mandibular | Ectrodactilia de mão e pés-hipoplasia mandibular |
| pl | Zespół kończynowo-nerkowo-żuchwowy | Rozszczep dłoni/rozszczep stopy - hipoplazja żuchwy |
| cs | Akrorenomandibulární syndrom | Syndrom zahrnující rozštěpenou ruku/nohu a mandibulární hypoplázii |
| uk | Акро-нирково-щелепний синдром | Синдром гіпоплазії нижньої щелепи з розщепленою кистю/розщепленою стопою |
| zh | 肢端-肾-下颌综合征 | 裂手/裂脚-下颌发育不全综合征 |
| tr | Akro-renal-mandibular sendromu | Ayrık el/ayrık ayak-mandibular hipoplazi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 200980 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0008707 | E | validated | |
| MeSH | C535665 | E | validated | |
| UMLS | C1860166 | E | validated | |
| GARD | 480 | 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: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
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 | 10 cases | Worldwide | Case(s) | Validated | 25075450[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25075450[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
37 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002984 | Hypoplasia of the radius | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0006381 | Rudimentary fibula | |
| HP:0006426 | Rudimentary to absent tibiae | |
| HP:0001839 | Split foot | |
| HP:0001171 | Split hand | |
| Frequent (79-30%) | ||
| HP:0000889 | Abnormality of the clavicle | |
| HP:0004408 | Abnormality of the sense of smell | |
| HP:0000813 | Bicornuate uterus | |
| HP:0000218 | High palate | |
| HP:0002827 | Hip dislocation | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000347 | Micrognathia | |
| HP:0001562 | Oligohydramnios | |
| HP:0000768 | Pectus carinatum | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0000470 | Short neck | |
| HP:0000883 | Thin ribs | |
| HP:0003762 | Uterus didelphys | |
| Occasional (29-5%) | ||
| HP:0002101 | Abnormal lung lobation | |
| HP:0010295 | Aplasia/Hypoplasia of the tongue | |
| HP:0003316 | Butterfly vertebrae | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0006101 | Finger syndactyly | |
| HP:0002937 | Hemivertebrae | |
| HP:0000882 | Hypoplastic scapulae | |
| HP:0002808 | Kyphosis | |
| HP:0000275 | Narrow face | |
| HP:0000202 | Orofacial cleft | |
| HP:0002650 | Scoliosis | |
| HP:0000322 | Short philtrum | |
| HP:0000912 | Sprengel anomaly | |
| HP:0002575 | Tracheoesophageal fistula | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/958
- This record as JSON: /data/d/958.json