MCID: TBL008
MIFTS: 28

Tibial Hemimelia

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Tibial Hemimelia

MalaCards integrated aliases for Tibial Hemimelia:

Name: Tibial Hemimelia 57 53 59 13
Tibia, Absence of 57 53
Congenital Aplasia and Dysplasia of the Tibia with Intact Fibula 59
Congenital Longitudinal Deficiency of the Tibia 59
Bilateral Absence of the Tibia 53
Tibial Longitudinal Meromelia 59
Congenital Absence of Tibia 59
Absence of Tibia 53
Thm 57

Characteristics:

Orphanet epidemiological data:

59
tibial hemimelia
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive
also other dominant and recessive tibial hemimelia syndromes


HPO:

32
tibial hemimelia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 275220
Orphanet 59 ORPHA93322
UMLS via Orphanet 74 C0265633
ICD10 via Orphanet 34 Q72.5
MedGen 42 C0265633
SNOMED-CT via HPO 69 258211005

Summaries for Tibial Hemimelia

NIH Rare Diseases : 53 Absence of tibia is a rare birth defect that is characterized by deficiency of the tibia (the shinbone) with other bones of the lower leg relatively intact. The condition may affect one or both legs. Some cases are isolated birth defects, while others are associated with a variety of skeletal and other malformations. It can also be a part of a recognized syndrome such as Werner's syndrome, tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome, and CHARGE syndrome. The underlying cause is generally unknown. Although most isolated cases occur sporadically in people with no family history of the condition, absence of the tibia can rarely affect more than one family member. Treatment varies based on the severity of the condition, but generally involves surgery (i.e. amputation or reconstructive surgery with a prosthesis adapted to growth).

MalaCards based summary : Tibial Hemimelia, also known as tibia, absence of, is related to laurin-sandrow syndrome and tibial hemimelia cleft lip palate. An important gene associated with Tibial Hemimelia is GLI3 (GLI Family Zinc Finger 3). Affiliated tissues include bone, and related phenotypes are abnormality of the skeletal system and absent tibia

Description from OMIM: 275220

Related Diseases for Tibial Hemimelia

Graphical network of the top 20 diseases related to Tibial Hemimelia:



Diseases related to Tibial Hemimelia

Symptoms & Phenotypes for Tibial Hemimelia

Symptoms via clinical synopsis from OMIM:

57
Limbs:
absent tibia


Clinical features from OMIM:

275220

Human phenotypes related to Tibial Hemimelia:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the skeletal system 32 HP:0000924
2 absent tibia 32 HP:0009556

Drugs & Therapeutics for Tibial Hemimelia

Search Clinical Trials , NIH Clinical Center for Tibial Hemimelia

Genetic Tests for Tibial Hemimelia

Anatomical Context for Tibial Hemimelia

MalaCards organs/tissues related to Tibial Hemimelia:

41
Bone

Publications for Tibial Hemimelia

Articles related to Tibial Hemimelia:

(show all 36)
# Title Authors Year
1
A rare case of tibial hemimelia, surgical technique and clinical results. ( 29248252 )
2017
2
Systematic radiographic evaluation of tibial hemimelia with orthopedic implications. ( 28050636 )
2017
3
Unclassified tibial hemimelia. ( 27277586 )
2016
4
Tibial hemimelia associated with GLI3 truncation. ( 26791356 )
2016
5
Rare case of tibial hemimelia, preaxial polydactyly, and club foot. ( 28035313 )
2016
6
Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia. ( 27530878 )
2016
7
Tibial hemimelia: new classification and reconstructive options. ( 27909860 )
2016
8
Foot centralization for tibial hemimelia. ( 25622236 )
2015
9
Spinal lipoma with tibial hemimelia-incidental or causative? Revisiting the McCredie-McBride hypothesis. ( 25751490 )
2015
10
Microsurgical knee reconstruction in a type IA tibial hemimelia. ( 25556678 )
2015
11
Functional Assessment in Tibial Hemimelia (Can We Also Save the Foot in Reconstruction?). ( 26019025 )
2015
12
Preliminary report on amputation versus reconstruction in treatment of tibial hemimelia. ( 26511689 )
2015
13
A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway Cattle. ( 26076463 )
2015
14
Through-knee amputation for a patient with proximal femur focal deficiency and tibial hemimelia: surgical anatomy and clinical implications. ( 24158808 )
2014
15
A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3. ( 24838992 )
2014
16
Tibial hemimelia-polydactyly-five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS): a case report. ( 22314436 )
2013
17
A case of bilateral tibial hemimelia type VIIa. ( 23901205 )
2013
18
Bilateral tibial hemimelia type 1 (1a and 1b) with T9 and T10 hemivertebrae: a novel association. ( 24141299 )
2013
19
Limb salvage treatment for Gollop-Wolfgang complex (femoral bifurcation, complete tibial hemimelia, and hand ectrodactyly). ( 23660549 )
2013
20
Limb salvage in tibial hemimelia. ( 23326984 )
2012
21
Tibial hemimelia in Langer-Giedion syndrome with 8q23.1-q24.12 interstitial deletion. ( 21948702 )
2011
22
Tibial hemimelia with separate soft-tissue cover of the tibia and fibula. ( 21705577 )
2011
23
Tibial hemimelia in one of the identical twins. ( 20864864 )
2010
24
Correction of clubfoot deformity associated with Weber type I tibial hemimelia using the Ponseti method. ( 21162708 )
2010
25
Tibial hemimelia and femoral bifurcation. ( 20192156 )
2010
26
A rare variant of tibial hemimelia and its treatment. ( 19543118 )
2009
27
A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. ( 18493797 )
2008
28
New classification and score for tibial hemimelia. ( 19308574 )
2008
29
Bilateral tibial hemimelia I. ( 17031864 )
2007
30
Tibial hemimelia-split hand/foot syndrome with rare anomalies. ( 15767725 )
2005
31
Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family. ( 10869115 )
2000
32
Tibial hemimelia, meningocele, and abdominal hernia in Shorthorn cattle. ( 11055885 )
2000
33
Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q. ( 10398269 )
1999
34
Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: severe expression of the acrocallosal syndrome? ( 8357003 )
1993
35
Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia. ( 1789289 )
1991
36
Isolated tibial hemimelia in sibs: an autosomal-recessive disorder? ( 6711611 )
1984

Variations for Tibial Hemimelia

Expression for Tibial Hemimelia

Search GEO for disease gene expression data for Tibial Hemimelia.

Pathways for Tibial Hemimelia

GO Terms for Tibial Hemimelia

Molecular functions related to Tibial Hemimelia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 8.62 GLI3 PITX1

Sources for Tibial Hemimelia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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