Orphanet: Blount disease

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Blount disease

Disease definition

Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.

ORPHA:2768

Classification level: Disorder

Synonym(s):
- Infantile tibia vara
- Osteochondrosis deformans tibiae
- Tibia vara Blount
Prevalence: Not yet documented
Inheritance: Autosomal recessive
Age of onset: Infancy, Childhood
ICD-10: M92.5
OMIM: 188700 259200
UMLS: C0175756
MeSH: C536237
GARD: 916
MedDRA: 10072255

Summary

Epidemiology

Prevalence is unknown.

Clinical description

Clinically, patients with Blount disease present with bowing and length discrepancy in the lower limbs and a medial prominence of the proximal tibia. Obesity and early walking are predisposing factors for the development of the disorder.

Etiology

The underlying causes are controversial: it seems to be a multifactorial disease, but the contribution of genetic factors is unknown.

Diagnostic methods

Blount disease can only be diagnosed in children over 2 years of age, as tibia varus can occur physiologically.

Management and treatment

A severe untreated deformity can lead to early degenerative arthritis of the knee. Management must be adapted to each child: an orthopaedic therapeutic program is often the first management option, but in more severe cases associated with pain, surgery may be indicated to correct the deformity.

Expert reviewer(s): Dr Martine LE MERRER - Last update: October 2006

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