Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Blount disease
Synonyms

Infantile tibia vara

Tibia vara Blount

Osteochondrosis deformans tibiae

Definitions

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.

ID

http://www.orpha.net/ORDO/Orphanet_2768

alternative_term

Infantile tibia vara

Tibia vara Blount

Osteochondrosis deformans tibiae

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.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2768

has_age_of_onset

Childhood

Infancy

has_inheritance

Autosomal recessive

hasDbXref

MedDRA:10072255

OMIM:259200

MeSH:C536237

UMLS:C0220757

ICD-11:FB82.1

ICD-10:M92.5

OMIM:188700

label

Blount disease

notation

ORPHA:2768

part_of

http://www.orpha.net/ORDO/Orphanet_93439

prefixIRI

ORDO:Orphanet_2768

prefLabel

Blount disease

present_in

Worldwide

treeView

http://www.orpha.net/ORDO/Orphanet_93439

subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493

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