MCID: BLN020
MIFTS: 14

Blount Disease, Infantile

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Blount Disease, Infantile

MalaCards integrated aliases for Blount Disease, Infantile:

Name: Blount Disease, Infantile 57
Osteochondrosis Deformans Tibiae, Infantile 57
Tibia Vara, Infantile 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
? heterogeneous


HPO:

31
blount disease, infantile:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 188700
MedGen 41 C3150037
SNOMED-CT via HPO 68 263681008 299331007 82562007

Summaries for Blount Disease, Infantile

OMIM® : 57 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). (188700) (Updated 20-May-2021)

MalaCards based summary : Blount Disease, Infantile, also known as osteochondrosis deformans tibiae, infantile, is related to blount's disease. Related phenotypes are genu varum and abnormality of the proximal tibial epiphysis

Related Diseases for Blount Disease, Infantile

Diseases in the Blount's Disease family:

Blount Disease, Infantile

Diseases related to Blount Disease, Infantile via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 blount's disease 11.2

Symptoms & Phenotypes for Blount Disease, Infantile

Human phenotypes related to Blount Disease, Infantile:

31
# Description HPO Frequency HPO Source Accession
1 genu varum 31 HP:0002970
2 abnormality of the proximal tibial epiphysis 31 HP:0010591
3 osteochondritis dissecans 31 HP:0010886

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Limbs:
tibia vara
bowleg with progressive deformity

Misc:
infantile type or adolescent type

Joints:
osteochondritis dissecans of knees

Radiology:
sloping proximal tibial epiphysis and medial beaked metaphysis

Clinical features from OMIM®:

188700 (Updated 20-May-2021)

Drugs & Therapeutics for Blount Disease, Infantile

Search Clinical Trials , NIH Clinical Center for Blount Disease, Infantile

Genetic Tests for Blount Disease, Infantile

Anatomical Context for Blount Disease, Infantile

Publications for Blount Disease, Infantile

Articles related to Blount Disease, Infantile:

# Title Authors PMID Year
1
Blount disease. 57
19571101 2009
2
Chondrodysplasia punctata mimicking Blount's disease. A case report. 57
2281772 1990
3
Blount's disease in a pair of identical twins. 57
2281773 1990
4
Probable dominant inheritance in Blount's disease. 57
880738 1977
5
Familial infantile osteochondrosis deformans tibiae. Idiopathic tibia vara. A case report. 57
6035455 1967
6
Infantile tibia vara: correction of recurrent varus deformity following epiphyseolysis. 61
19292300 2008
7
Radiographic evaluation of bowed legs in children. 61
11242263 2001
8
[Tibia vara in adolescents. Apropos of 19 cases]. 61
10507105 1999

Variations for Blount Disease, Infantile

Expression for Blount Disease, Infantile

Search GEO for disease gene expression data for Blount Disease, Infantile.

Pathways for Blount Disease, Infantile

GO Terms for Blount Disease, Infantile

Sources for Blount Disease, Infantile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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