BLOUNT DISEASE, INFANTILE

General Information (adopted from Orphanet):

Synonyms, Signs: TIBIA VARA, INFANTILE
OSTEOCHONDROSIS DEFORMANS TIBIAE, INFANTILE
Number of Symptoms 4
OrphanetNr:
OMIM Id: 188700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(OMIM) Tibia vara 3 / 7739
2
(OMIM) Bowleg with progressive deformity 1 / 7739
3
(OMIM) Sloping proximal tibial epiphysis and medial beaked metaphysis 1 / 7739
4
(OMIM) Osteochondritis dissecans of knees 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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).
Clinical Description OMIM Blount (1937) described 22 cases of bowlegs in infants, with progressive deformity and radiologic findings of sloping proximal tibial epiphysis and a medial beak of the metaphysis. Blount (1937) suggested the existence of an infantile type with onset ...