Blount disease
Synonyms: Infantile tibia vara · Osteochondrosis deformans tibiae · Tibia vara Blount
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare primary bone dysplasia characterized by disordered endochondral ossification of the medial part of the proximal tibial physis leading to multiplanar deformities of the lower limb. Patients present with bow-legged deformity with bone angulation just below the knee which is mostly bilateral. Severe deformity may result in early degenerative arthritis of the knee. It may occur as an isolated condition or as a part of a syndrome. It mostly occurs in infancy, however adolescence-onset patients have also been reported. Risk factors may include obesity and early walking.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blount disease | Infantile tibia vara · Osteochondrosis deformans tibiae · Tibia vara Blount |
| fr | Maladie de Blount | Ostéochondrose déformante du tibia · Tibia vara Blount · Tibia vara infantile |
| de | Blount-Syndrom | Blount-Barber-Syndrom · Blount-Krankheit · Osteochondrosis deformans tibiae |
| es | Enfermedad de Blount | Osteocondrosis deformante de tibia · Tibia vara de Blount · Tibia vara infantil |
| it | Malattia di Blount | Osteocondrosi deformante della tibia · Tibia vara di Blount · Tibia vara infantile |
| nl | Ziekte van Blount | Infantiele tibia vara · Osteochondrosis deformans tibiae · Tibia vara - Blount |
| pt | Doença de Blount | Osteocondrose deformante da tíbia |
| pl | Choroba Blounta | Piszczel szpotawa Blounta · Piszczel szpotawa typ dziecięcy |
| cs | Blountova nemoc | Osteochondrosis deformans tibiae · Blountova tibia vara · Dětská tibia vara |
| uk | Хвороба Блаунта | Інфантильна варіація великогомілкової кістки · Остеохондроз деформуючих кісток гомілки · Tibia vara Blount |
| zh | Blount病 | 胫骨变形性骨软骨病 |
| tr | Blount hastalığı | Tibia vara Blount · İnfantil tibia vara · Osteokondrozis deformans tibiya |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 188700 | BTNT | validated | |
| OMIM | 259200 | BTNT | validated | |
| ICD-10 | M92.5 | NTBT | attributed | validated |
| ICD-11 | FB82.1 | NTBT | index | validated |
| MONDO | 0017194 | E | validated | |
| MeSH | C536237 | E | validated | |
| UMLS | C0220757 | E | validated | |
| GARD | 916 | E | validated | |
| MedDRA | 10072255 | 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Not yet documented | — | 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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002982 | Tibial bowing | |
| Frequent (79-30%) | ||
| HP:0002815 | Abnormality of the knee | |
| HP:0010591 | Abnormality of the proximal tibial epiphysis | |
| HP:0006491 | Abnormality of the tibial metaphysis | |
| HP:0040188 | Osteochondrosis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 25435033[PMID]_2281773[PMID]_13475409[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2768
- This record as JSON: /data/d/2768.json