Mesomelic dysplasia, Savarirayan type
Synonyms: Mesomelic dysplasia with absent fibulas and triangular tibias · Triangular tibia-fibular aplasia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mesomelic dysplasia, Savarirayan type | Mesomelic dysplasia with absent fibulas and triangular tibias · Triangular tibia-fibular aplasia syndrome |
| fr | Dysplasie mésomélique type Savarirayan | Dysplasie mésomélique avec absence de fibula et tibias triangulaires · Syndrome de tibia triangulaire-aplasie fibulaire |
| de | Dysplasie, mesomele, Typ Savarirayan | Mesomele Dysplasie mit dreiwinkligem Schienbein und fehlendem Wadenbein · Trianguläre Tibia - Fibula-Aplasie |
| es | Displasia mesomélica tipo Savarirayan | |
| it | Displasia mesomelica, tipo Savarirayan | Displasia mesomelica con peroni assenti e tibie triangolari · Tibia a triangolo - aplasia della fibula |
| nl | Mesomele dysplasie, Savarirayan-type | Driehoekige tibia - fibulaire aplasie-syndroom · Mesomele dysplasie met afwezige fibulae en driehoekige tibiae |
| pt | Displasia mesomélica, tipo Savarirayan | |
| pl | Dysplazja mezomeliczna, typ Savarirayan | Dysplazja mezomeliczna z brakiem kości strzałkowych i trójkątnymi kośćmi piszczelowymi · Trójkątna kość piszczelowa - aplazja kości strzałkowej |
| cs | Mezomelická dysplázie, Savarirayanův typ | Syndrom zahrnující trojúhelníkovité tibie a fibulární aplázii · Mezomelická dysplázie s chybějícími fibulami a trojúhelníkovitými tibiemi |
| uk | Мезомелічна дисплазія, тип Саваріраяна | Мезомелічна дисплазія з відсутніми малогомілковими та трикутними великогомілковими кістками · Синдром трикутної аплазії великогомілкової кістки |
| zh | 肢中骨发育不良，Savarirayan型 | 肢中骨发育不良伴腓骨缺失和三角胫骨 |
| tr | Mezomelik displazi, Savarirayan tipi | Üçgen tibia-fibular aplazi sendromu · Fibulaları ve üçgen tibiaları olmayan mezomelik displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605274 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | index | validated |
| MONDO | 0011530 | E | validated | |
| MeSH | C565349 | E | validated | |
| UMLS | C1854470 | E | validated | |
| GARD | 10584 | 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 (1):
- ORPHA:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
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 | Not yet 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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006487 | Bowing of the long bones | |
| HP:0006413 | Broad tibial metaphyses | |
| HP:0002990 | Fibular aplasia | |
| HP:0004018 | Flared radial metaphysis | |
| HP:0006633 | Glenoid fossa hypoplasia | |
| HP:0008808 | High iliac wings | |
| HP:0002827 | Hip dislocation | |
| HP:0006434 | Hypoplasia of proximal radius | |
| HP:0003027 | Mesomelia | |
| HP:0010508 | Metatarsus valgus | |
| HP:0002868 | Narrow iliac wings | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0003042 | Elbow dislocation | |
| HP:0001249 | Intellectual disability | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 17702012[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85170
- This record as JSON: /data/d/85170.json