THM
MCID: TBL008
MIFTS: 29

Tibial Hemimelia (THM)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Tibial Hemimelia

MalaCards integrated aliases for Tibial Hemimelia:

Name: Tibial Hemimelia 58 54 60 13
Tibia, Absence of 58 54
Congenital Aplasia and Dysplasia of the Tibia with Intact Fibula 60
Congenital Longitudinal Deficiency of the Tibia 60
Bilateral Absence of the Tibia 54
Tibial Longitudinal Meromelia 60
Congenital Absence of Tibia 60
Absence of Tibia 54
Thm 58

Characteristics:

Orphanet epidemiological data:

60
tibial hemimelia
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive
also other dominant and recessive tibial hemimelia syndromes


HPO:

33
tibial hemimelia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 275220
ICD10 via Orphanet 35 Q72.5
UMLS via Orphanet 75 C0265633
Orphanet 60 ORPHA93322
MedGen 43 C0265633
SNOMED-CT via HPO 70 258211005

Summaries for Tibial Hemimelia

NIH Rare Diseases : 54 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

Human phenotypes related to Tibial Hemimelia:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the skeletal system 33 HP:0000924
2 absent tibia 33 HP:0009556

Symptoms via clinical synopsis from OMIM:

58
Limbs:
absent tibia

Clinical features from OMIM:

275220

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:

42
Bone

Publications for Tibial Hemimelia

Articles related to Tibial Hemimelia:

(show top 50) (show all 60)
# Title Authors Year
1
Asymmetric limb lengthening in the treatment of tibial hemimelia caused by osteomyelitis: A case report. ( 30653110 )
2019
2
Optimizing the use of fibula in type II tibial hemimelia: early results. ( 30234726 )
2019
3
Proximal Preaxial Hallucal Polysyndactyly with Tibial Hemimelia: Diabetic Embryopathy. ( 30172433 )
2018
4
Femoral bifurcation and bilateral tibial hemimelia: case report. ( 30344883 )
2018
5
A rare case of tibial hemimelia, surgical technique and clinical results. ( 29248252 )
2017
6
Systematic radiographic evaluation of tibial hemimelia with orthopedic implications. ( 28050636 )
2017
7
Unclassified tibial hemimelia. ( 27277586 )
2016
8
Tibial hemimelia associated with GLI3 truncation. ( 26791356 )
2016
9
Rare case of tibial hemimelia, preaxial polydactyly, and club foot. ( 28035313 )
2016
10
Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia. ( 27530878 )
2016
11
Tibial hemimelia: new classification and reconstructive options. ( 27909860 )
2016
12
Foot centralization for tibial hemimelia. ( 25622236 )
2015
13
Spinal lipoma with tibial hemimelia-incidental or causative? Revisiting the McCredie-McBride hypothesis. ( 25751490 )
2015
14
Microsurgical knee reconstruction in a type IA tibial hemimelia. ( 25556678 )
2015
15
Functional Assessment in Tibial Hemimelia (Can We Also Save the Foot in Reconstruction?). ( 26019025 )
2015
16
Preliminary report on amputation versus reconstruction in treatment of tibial hemimelia. ( 26511689 )
2015
17
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
18
Through-knee amputation for a patient with proximal femur focal deficiency and tibial hemimelia: surgical anatomy and clinical implications. ( 24158808 )
2014
19
A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3. ( 24838992 )
2014
20
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
21
A case of bilateral tibial hemimelia type VIIa. ( 23901205 )
2013
22
Bilateral tibial hemimelia type 1 (1a and 1b) with T9 and T10 hemivertebrae: a novel association. ( 24141299 )
2013
23
Limb salvage treatment for Gollop-Wolfgang complex (femoral bifurcation, complete tibial hemimelia, and hand ectrodactyly). ( 23660549 )
2013
24
Limb salvage in tibial hemimelia. ( 23326984 )
2012
25
Tibial hemimelia in Langer-Giedion syndrome with 8q23.1-q24.12 interstitial deletion. ( 21948702 )
2011
26
Tibial hemimelia with separate soft-tissue cover of the tibia and fibula. ( 21705577 )
2011
27
Tibial hemimelia in one of the identical twins. ( 20864864 )
2010
28
Correction of clubfoot deformity associated with Weber type I tibial hemimelia using the Ponseti method. ( 21162708 )
2010
29
Tibial hemimelia and femoral bifurcation. ( 20192156 )
2010
30
A rare variant of tibial hemimelia and its treatment. ( 19543118 )
2009
31
A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. ( 18493797 )
2008
32
New classification and score for tibial hemimelia. ( 19308574 )
2008
33
Bilateral tibial hemimelia I. ( 17031864 )
2007
34
Tibial hemimelia-split hand/foot syndrome with rare anomalies. ( 15767725 )
2005
35
Treatment of tibial hemimelia without amputation: preliminary report. ( 15931027 )
2005
36
Oligodontia associated with femoral bifurcation, tibial hemimelia and cleft hand. ( 15161558 )
2004
37
A pair of sibs with tibial hemimelia born to phenotypically normal parents. ( 12730719 )
2003
38
Femoral bifurcation associated with tibial hemimelia. ( 11332968 )
2001
39
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
40
Tibial hemimelia, meningocele, and abdominal hernia in Shorthorn cattle. ( 11055885 )
2000
41
Tibial hemimelia of a different class. ( 11008741 )
2000
42
Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q. ( 10398269 )
1999
43
Unilateral tibial hemimelia with leg length inequality and varus foot: external fixator treatment. ( 10395344 )
1999
44
Prenatal diagnosis of unilateral tibial hemimelia. ( 8705415 )
1996
45
Anatomic considerations of the foot and leg in tibial hemimelia. ( 8784695 )
1996
46
Tibial hemimelia and tetralogy of Fallot associated with first trimester exposure to amantadine. ( 8186630 )
1994
47
Tibial hemimelia syndrome: prenatal diagnosis by real-time ultrasound. ( 8052563 )
1994
48
Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: severe expression of the acrocallosal syndrome? ( 8357003 )
1993
49
Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia. ( 1789289 )
1991
50
Autosomal dominant tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome: report of a Brazilian family. ( 2333896 )
1990

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

Sources for Tibial Hemimelia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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