THM
MCID: TBL008
MIFTS: 31

Tibial Hemimelia (THM)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Tibial Hemimelia

MalaCards integrated aliases for Tibial Hemimelia:

Name: Tibial Hemimelia 56 52 58 13
Tibia, Absence of 56 52
Congenital Aplasia and Dysplasia of the Tibia with Intact Fibula 58
Congenital Longitudinal Deficiency of the Tibia 58
Bilateral Absence of the Tibia 52
Tibial Longitudinal Meromelia 58
Congenital Absence of Tibia 58
Absence of Tibia 52
Thm 56

Characteristics:

Orphanet epidemiological data:

58
tibial hemimelia
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive
also other dominant and recessive tibial hemimelia syndromes


HPO:

31
tibial hemimelia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Tibial Hemimelia

NIH Rare Diseases : 52 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 tibia, hypoplasia or aplasia of, with polydactyly and laurin-sandrow syndrome. An important gene associated with Tibial Hemimelia is GLI3 (GLI Family Zinc Finger 3). Affiliated tissues include bone, and related phenotypes are talipes equinovarus and absent tibia

More information from OMIM: 275220

Related Diseases for Tibial Hemimelia

Diseases related to Tibial Hemimelia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 tibia, hypoplasia or aplasia of, with polydactyly 32.7 ZRS GLI3
2 laurin-sandrow syndrome 31.0 ZRS PITX1 GLI3
3 hemimelia 29.7 ZRS THMA PITX1 GLI3
4 polydactyly 29.3 ZRS PITX1 GLI3
5 tibia, absence of, with congenital deafness 12.4
6 tibial aplasia-ectrodactyly syndrome 11.9
7 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 11.8
8 acromelic frontonasal dysostosis 11.8
9 hypoplasia of the tibia with polydactyly 11.5
10 thymoma 11.4
11 thymoma, familial 11.2
12 synostosis 10.6
13 split-hand/foot malformation 1 10.5
14 femur, unilateral bifid, with monodactylous ectrodactyly 10.5
15 isolated split hand-split foot malformation 10.5
16 femur bifid with monodactylous ectrodactyly 10.5
17 trichorhinophalangeal syndrome, type ii 10.4
18 clubfoot 10.4
19 chromosome 2q35 duplication syndrome 10.3
20 split hand-foot malformation 10.3
21 dysostosis 10.3
22 cleft lip 10.3
23 trichorhinophalangeal syndrome 10.3
24 cleft lip/palate 10.3
25 triiodothyronine receptor auxiliary protein 10.2
26 ataxia-telangiectasia 10.2
27 ataxia and polyneuropathy, adult-onset 10.2
28 nasopharyngeal carcinoma 10.2
29 myelodysplastic syndrome 10.2
30 telangiectasis 10.2
31 chronic granulomatous disease 10.2
32 skin carcinoma 10.2
33 split-hand/foot malformation with long bone deficiency 1 10.1
34 exostoses, multiple, type i 10.1
35 hypertelorism 10.1
36 lipomatosis, multiple 10.1
37 polydactyly, preaxial ii 10.1
38 polydactyly, preaxial iii 10.1
39 tetralogy of fallot 10.1
40 trichorhinophalangeal syndrome, type i 10.1
41 acrocallosal syndrome 10.1
42 ectrodactyly-polydactyly 10.1
43 thrombocytopenia-absent radius syndrome 10.1
44 werner syndrome 10.1
45 preaxial hallucal polydactyly 10.1
46 chromosome 17p13.3, telomeric, duplication syndrome 10.1
47 tooth agenesis 10.1
48 autosomal recessive disease 10.1
49 omphalocele 10.1
50 osteomyelitis 10.1

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:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 talipes equinovarus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001762
2 absent tibia 58 31 hallmark (90%) Very frequent (99-80%) HP:0009556
3 split hand 58 31 frequent (33%) Frequent (79-30%) HP:0001171
4 knee flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0006380
5 mesomelic leg shortening 58 31 frequent (33%) Frequent (79-30%) HP:0004987
6 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
7 metatarsus adductus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001840
8 cutaneous finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0010554
9 tarsal synostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008368
10 absent radius 58 31 occasional (7.5%) Occasional (29-5%) HP:0003974
11 short tibia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005736
12 radial club hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0004059
13 split foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001839
14 rudimentary to absent tibiae 58 31 occasional (7.5%) Occasional (29-5%) HP:0006426
15 foot oligodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001849
16 polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0010442
17 partial absence of foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0030032
18 increased laxity of ankles 58 31 occasional (7.5%) Occasional (29-5%) HP:0006460
19 proximal tibial and fibular fusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0005892
20 aplasia of the 2nd metacarpal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010037
21 aplasia of the 4th metacarpal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010043
22 absent hallux 58 31 occasional (7.5%) Occasional (29-5%) HP:0012386
23 hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000365
24 cleft palate 58 31 very rare (1%) Very rare (<4-1%) HP:0000175
25 cryptorchidism 58 31 very rare (1%) Very rare (<4-1%) HP:0000028
26 hemivertebrae 58 31 very rare (1%) Very rare (<4-1%) HP:0002937
27 hip dislocation 58 31 very rare (1%) Very rare (<4-1%) HP:0002827
28 hypospadias 58 31 very rare (1%) Very rare (<4-1%) HP:0000047
29 coxa valga 58 31 very rare (1%) Very rare (<4-1%) HP:0002673
30 ambiguous genitalia 58 31 very rare (1%) Very rare (<4-1%) HP:0000062
31 myelomeningocele 58 31 very rare (1%) Very rare (<4-1%) HP:0002475
32 abnormality of the skeletal system 31 HP:0000924
33 oligodactyly 58 Occasional (29-5%)
34 syndactyly 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
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:

40
Bone

Publications for Tibial Hemimelia

Articles related to Tibial Hemimelia:

(show top 50) (show all 106)
# Title Authors PMID Year
1
A pair of sibs with tibial hemimelia born to phenotypically normal parents. 56 61
12730719 2003
2
Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q. 56 61
10398269 1999
3
Tibial hemimelia-cleft lip/palate in a Brazilian child born to consanguineous parents. 61 56
3425613 1987
4
Tibial hemimelia: report on 37 new cases, clinical and genetic considerations. 61 56
3425598 1987
5
Isolated tibial hemimelia in sibs: an autosomal-recessive disorder? 61 56
6711611 1984
6
Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23. 56
6984841 1982
7
Congenital aplasia and dysplasia of the tibia with intact fibula. Classification and management. 56
627576 1978
8
Management of severe congenital flexion deformity of the knee using Ilizarov method. 61
30807513 2020
9
Clinical spectrum of congenital tibial hemimelia in 35 limbs of 24 patients: A single center observational study from India. 61
31078790 2019
10
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature. 61
31200655 2019
11
Lower Extremity Surgical Treatment to Improve Function in a Patient with Gollop-Wolfgang Complex: A Case Report. 61
31211748 2019
12
Type-I Tibial Hemimelia: A Limb-Salvage and Lengthening Technique. 61
31161149 2019
13
Optimizing the use of fibula in type II tibial hemimelia: early results. 61
30234726 2019
14
Asymmetric limb lengthening in the treatment of tibial hemimelia caused by osteomyelitis: A case report. 61
30653110 2019
15
Proximal Preaxial Hallucal Polysyndactyly with Tibial Hemimelia: Diabetic Embryopathy. 61
30172433 2018
16
Constant inhibition in congenital lower extremity shortening: does it begin in utero? 61
29797037 2018
17
A rare case of tibial hemimelia, surgical technique and clinical results. 61
29248252 2018
18
Femoral bifurcation and bilateral tibial hemimelia: case report. 61
30344883 2018
19
Systematic radiographic evaluation of tibial hemimelia with orthopedic implications. 61
28050636 2017
20
Tibial hemimelia: new classification and reconstructive options. 61
27909860 2016
21
Rare case of tibial hemimelia, preaxial polydactyly, and club foot. 61
28035313 2016
22
Functional Assessment in Tibial Hemimelia (Can We Also Save the Foot in Reconstruction?). 61
26019025 2016
23
Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia. 61
27530878 2016
24
Unclassified tibial hemimelia. 61
27277586 2016
25
Tibial hemimelia associated with GLI3 truncation. 61
26791356 2016
26
Imaging features of lower limb malformations above the foot. 61
25920687 2015
27
Foot centralization for tibial hemimelia. 61
25622236 2015
28
Microsurgical knee reconstruction in a type IA tibial hemimelia. 61
25556678 2015
29
Preliminary report on amputation versus reconstruction in treatment of tibial hemimelia. 61
26511689 2015
30
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. 61
26076463 2015
31
Spinal lipoma with tibial hemimelia-incidental or causative? Revisiting the McCredie-McBride hypothesis. 61
25751490 2015
32
[Congenital tibial hemimelia]. 61
25209017 2014
33
Clubfoot associated with preaxial polydactyly. 61
25075765 2014
34
A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3. 61
24838992 2014
35
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. 61
25105228 2014
36
Through-knee amputation for a patient with proximal femur focal deficiency and tibial hemimelia: surgical anatomy and clinical implications. 61
24158808 2014
37
Bilateral congenital deficiency of tibia: a case report. 61
25547889 2014
38
Limb salvage treatment for Gollop-Wolfgang complex (femoral bifurcation, complete tibial hemimelia, and hand ectrodactyly). 61
23660549 2013
39
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. 61
22314436 2013
40
Bilateral tibial hemimelia type 1 (1a and 1b) with T9 and T10 hemivertebrae: a novel association. 61
24141299 2013
41
A case of bilateral tibial hemimelia type VIIa. 61
23901205 2013
42
[Clubfoot associated with tibial and fibular hemimelia]. 61
23076751 2012
43
Limb salvage in tibial hemimelia. 61
23326984 2012
44
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. 61
22258522 2012
45
Tibial hemimelia in Langer-Giedion syndrome with 8q23.1-q24.12 interstitial deletion. 61
21948702 2011
46
Tibial hemimelia with separate soft-tissue cover of the tibia and fibula. 61
21705577 2011
47
Tibial hemimelia in one of the identical twins. 61
20864864 2010
48
Expansion of Carraro syndrome or a new disorder? 61
19997747 2010
49
Tibial hemimelia and femoral bifurcation. 61
20192156 2010
50
Correction of clubfoot deformity associated with Weber type I tibial hemimelia using the Ponseti method. 61
21162708 2010

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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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