Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood
- Status
- active
Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome | |
| fr | Syndrome d'incurvation latérale sévère du tibia-petite taille-omoplate ailée modérée-dysmorphie faciale modérée | |
| de | Schwere laterale Tibiaverkrümmung-Kleinwuchs-milde Scapula alata-Gesichtsdysmorphie-Syndrom | |
| es | Síndrome de incurvación tibial lateral grave-talla baja-escápula alada leve-dismorfia facial leve | |
| it | Sindrome da grave incurvamento laterale della tibia-bassa statura-scapole lievemente alate-dismorfismi facciali sfumati | |
| nl | Ernstige laterale tibiale kromming - kleine gestalte - milde scapula alata - milde faciale dysmorfie-syndroom | Ernstige laterale kromstand van scheenbeen - kleine gestalte - mild afstaand schouderblad - milde faciale dysmorfie-syndroom |
| pt | Síndrome de encurvamento lateral grave das tíbias-baixa estatura-escápula alada grau ligeiro-dismorfia facial ligeira | |
| pl | Ciężkie boczne wygięcie kości piszczelowej z niskim wzrostem | Ciężkie boczne wygięcie kości piszczelowej-niski wzrost-łagodnie odstająca łopatka-łagodna dysmorfia twarzy |
| cs | Syndrom zahrnující těžké laterální prohnutí holenní kosti, nízký vzrůst, mírně odstávající lopatku a mírnou faciální dysmorfii | |
| uk | Синдром вираженого бічного викривлення великогомілкової кістки-низькорослості-мягко вираженої крилоподібної лопатки-легкого дисморфізму обличчя | |
| zh | 重型胫骨外侧弯曲伴身材矮小 | |
| tr | Kısa boy ile seyreden ağır lateral tibial eğilme |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.C | NTBT | attributed | validated |
| UMLS | C4707850 | 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:93439Campomelic dysplasia and related disorders
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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 22927185[PMID] | |
| 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324307
- This record as JSON: /data/d/324307.json