Blount disease, infantile

MedGen UID:: 65091
•Concept ID:: C0220757
•: Disease or Syndrome

Synonyms:	Blount-Barber syndrome; Erlacher-Blount syndrome; Osteochondrosis deformans tibiae; Osteochondrosis deformans tibiae, familial infantile type; OSTEOCHONDROSIS DEFORMANS TIBIAE, INFANTILE; TIBIA VARA, INFANTILE
SNOMED CT:	Blount disease (880067009); Osteochondrosis deformans tibiae-familial infantile type (880067009); Osteochondrosis deformans tibiae (880067009); Infantile tibia vara (880067009); Tibia vara Blount (880067009)

Monarch Initiative:	MONDO:0008571
OMIM®:	188700

Definition

Blount disease is a developmental condition characterized by disordered endochondral ossification of the medial part of the proximal tibial physis resulting in multiplanar deformities of the lower limb (review by Sabharwal, 2009). [from OMIM]

Clinical features

From HPO

Genu varum

MedGen UID:: 154257
•Concept ID:: C0544755
•: Finding

A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.

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Osteochondritis dissecans

MedGen UID:: 10494
•Concept ID:: C0029421
•: Disease or Syndrome

A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.

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Abnormality of the proximal tibial epiphysis