THM
MCID: TBL008
MIFTS: 27

Tibial Hemimelia (THM)

Categories: Bone diseases, Fetal diseases, Rare 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
ICD10 via Orphanet 34 Q72.5
UMLS via Orphanet 73 C0265633
Orphanet 59 ORPHA93322
MedGen 42 C0265633

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 talipes equinovarus. 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

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 64)
# Related Disease Score Top Affiliating Genes
1 laurin-sandrow syndrome 31.3 ZRS PITX1
2 talipes equinovarus 29.5 PITX1 GLI3
3 obsolete: tibial hemimelia, bilateral 12.4
4 obsolete: tibial hemimelia, unilateral 12.4
5 tibia, absence of, with congenital deafness 12.4
6 absence of tibia with polydactyly 12.4
7 tibia, hypoplasia or aplasia of, with polydactyly 12.0
8 tibial aplasia-ectrodactyly syndrome 11.9
9 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 11.8
10 acromelic frontonasal dysostosis 11.8
11 hypoplasia of the tibia with polydactyly 11.4
12 thymoma 11.4
13 hemimelia 11.0
14 polydactyly 10.6
15 synostosis 10.6
16 split-hand/foot malformation 1 10.5
17 femur, unilateral bifid, with monodactylous ectrodactyly 10.5
18 isolated split hand-split foot malformation 10.5
19 femur bifid with monodactylous ectrodactyly 10.5
20 trichorhinophalangeal syndrome, type ii 10.4
21 chromosome 2q35 duplication syndrome 10.3
22 split hand-foot malformation 10.3
23 dysostosis 10.3
24 cleft lip 10.3
25 trichorhinophalangeal syndrome 10.3
26 cleft lip/palate 10.3
27 triiodothyronine receptor auxiliary protein 10.2
28 ataxia-telangiectasia 10.2
29 ataxia and polyneuropathy, adult-onset 10.2
30 nasopharyngeal carcinoma 10.2
31 myelodysplastic syndrome 10.2
32 telangiectasis 10.2
33 chronic granulomatous disease 10.2
34 skin carcinoma 10.2
35 split-hand/foot malformation with long bone deficiency 1 10.1
36 exostoses, multiple, type i 10.1
37 hypertelorism 10.1
38 lipomatosis, multiple 10.1
39 polydactyly, preaxial ii 10.1
40 polydactyly, preaxial iii 10.1
41 radioulnar synostosis 10.1
42 tetralogy of fallot 10.1
43 trichorhinophalangeal syndrome, type i 10.1
44 acrocallosal syndrome 10.1
45 ectrodactyly-polydactyly 10.1
46 thrombocytopenia-absent radius syndrome 10.1
47 werner syndrome 10.1
48 preaxial hallucal polydactyly 10.1
49 chromosome 17p13.3, telomeric, duplication syndrome 10.1
50 tooth agenesis 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:

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

Symptoms via clinical synopsis from OMIM:

57
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:

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