Axial mesodermal dysplasia spectrum
Synonyms: Blastogenesis defect · Russell-Weaver-Bull syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal
- Status
- active
Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Axial mesodermal dysplasia spectrum | Blastogenesis defect · Russell-Weaver-Bull syndrome |
| fr | Dysplasie mésodermique axiale | Anomalies de la blastogenèse · Syndrome de Russell-Weaver-Bull |
| de | Dysplasie, axiale mesodermale | Blastogeneseanomalien · Russell-Weaver-Bull-Syndrom |
| es | Displasia mesodérmica axial | Anomalías de blastogénesis · Síndrome de Russell-Weaver-Bull |
| it | Displasia mesodermica assiale | Anomalie della blastogenesi · Sindrome di Russell-Weaver-Bull |
| nl | Axiale mesodermale dysplasie-spectrum | Blastogenesedefect · Syndroom van Russell-Weaver-Bull |
| pt | Espectro clínico de displasia mesodérmica axial | Síndrome Russell-Weaver-Bull |
| pl | Spektrum osiowej dysplazji mezodermalnej | Defekt blastogenezy · Zespół Russella, Weavera i Bulla |
| cs | Spektrum mezodermální axiální dysplázie | Porucha blastogeneze · Russellův-Weaverův-Bullův syndrom · Russell-Weaver-Bullův syndrom |
| uk | Спектр аксіальної мезодермальної дисплазії | Дефект бластогенезу · Синдром Рассела-Вівера-Булла |
| zh | 轴中胚层发育不良谱系 | Russell-Weaver-Bull综合征 |
| tr | Aksiyal mezodermal displazi spektrumu | Blastogenez defekti · Russell-Weaver-Bull sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0015944 | E | validated | |
| MeSH | C537790 | E | validated | |
| UMLS | C2931613 | E | validated | |
| GARD | 213 | 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:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_7243441[PMID]_26949683[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
42 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0002242 | Abnormal intestine morphology | |
| HP:0000008 | Abnormal morphology of female internal genitalia | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0000078 | Abnormality of the genital system | |
| HP:0002815 | Abnormality of the knee | |
| HP:0001392 | Abnormality of the liver | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0001743 | Abnormality of the spleen | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0002023 | Anal atresia | |
| HP:0012732 | Anorectal anomaly | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000324 | Facial asymmetry | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0001140 | Limbal dermoid | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0000921 | Missing ribs | |
| HP:0012718 | Morphological abnormality of the gastrointestinal tract | |
| HP:0001562 | Oligohydramnios | |
| HP:0001539 | Omphalocele | |
| HP:0000384 | Preauricular skin tag | |
| HP:0001622 | Premature birth | |
| HP:0000107 | Renal cyst | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0003422 | Vertebral segmentation defect | |
| Frequent (79-30%) | ||
| HP:0100542 | Abnormal localization of kidney | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0002019 | Constipation | |
| HP:0000126 | Hydronephrosis | |
| HP:0002575 | Tracheoesophageal fistula | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1834
- This record as JSON: /data/d/1834.json