MCID: TBL008
MIFTS: 27

Tibial Hemimelia

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). Related phenotypes are abnormality of the skeletal system and absent tibia

Description from OMIM: 275220

Related Diseases for Tibial Hemimelia

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 laurin-sandrow syndrome 31.5 PITX1 ZRS
2 tibial hemimelia cleft lip palate 12.4
3 tibia, absence of, with congenital deafness 12.3
4 absence of tibia with polydactyly 12.3
5 tibia, hypoplasia or aplasia of, with polydactyly 11.6
6 tibial aplasia-ectrodactyly syndrome 11.5
7 hypoplasia of the tibia with polydactyly 11.3
8 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 11.3
9 acromelic frontonasal dysostosis 11.3
10 thymoma 11.3
11 cone-rod dystrophy and hearing loss 2 11.1
12 trichorhinophalangeal syndrome, type ii 10.3
13 polydactyly 10.3
14 tylosis with esophageal cancer 10.3
15 dysostosis 10.2
16 blood group, langereis system 10.1
17 lipomatosis, multiple 10.1
18 polydactyly, preaxial ii 10.1
19 split-hand/foot malformation 1 10.1
20 tetralogy of fallot 10.1
21 acrocallosal syndrome 10.1
22 femur, unilateral bifid, with monodactylous ectrodactyly 10.1
23 preaxial hallucal polydactyly 10.1
24 thrombocytopenia 10.1
25 tooth agenesis 10.1
26 autosomal recessive disease 10.1
27 split hand-foot malformation 10.1
28 osteomyelitis 10.1
29 pleomorphic lipoma 10.1
30 meningocele 10.1
31 clubfoot 10.1
32 cleft lip 10.1
33 bowenoid papulosis 10.1
34 femur bifid with monodactylous ectrodactyly 10.1
35 cleft lip/palate 10.1
36 isolated split hand-split foot malformation 10.1
37 atrial heart septal defect 10.0
38 talipes equinovarus 9.6 GLI3 PITX1

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

Publications for Tibial Hemimelia

Articles related to Tibial Hemimelia:

(show top 50) (show all 61)
# 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
Clinical spectrum of congenital tibial hemimelia in 35 limbs of 24 patients: A single center observational study from India. ( 31078790 )
2019
4
A rare case of tibial hemimelia, surgical technique and clinical results. ( 29248252 )
2018
5
Proximal Preaxial Hallucal Polysyndactyly with Tibial Hemimelia: Diabetic Embryopathy. ( 30172433 )
2018
6
Femoral bifurcation and bilateral tibial hemimelia: case report. ( 30344883 )
2018
7
Systematic radiographic evaluation of tibial hemimelia with orthopedic implications. ( 28050636 )
2017
8
Rare case of tibial hemimelia, preaxial polydactyly, and club foot. ( 28035313 )
2016
9
Functional Assessment in Tibial Hemimelia (Can We Also Save the Foot in Reconstruction?). ( 26019025 )
2016
10
Tibial hemimelia associated with GLI3 truncation. ( 26791356 )
2016
11
Unclassified tibial hemimelia. ( 27277586 )
2016
12
Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia. ( 27530878 )
2016
13
Tibial hemimelia: new classification and reconstructive options. ( 27909860 )
2016
14
Microsurgical knee reconstruction in a type IA tibial hemimelia. ( 25556678 )
2015
15
Foot centralization for tibial hemimelia. ( 25622236 )
2015
16
Spinal lipoma with tibial hemimelia-incidental or causative? Revisiting the McCredie-McBride hypothesis. ( 25751490 )
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
Preliminary report on amputation versus reconstruction in treatment of tibial hemimelia. ( 26511689 )
2015
19
A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3. ( 24838992 )
2014
20
Through-knee amputation for a patient with proximal femur focal deficiency and tibial hemimelia: surgical anatomy and clinical implications. ( 24158808 )
2014
21
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
22
Limb salvage treatment for Gollop-Wolfgang complex (femoral bifurcation, complete tibial hemimelia, and hand ectrodactyly). ( 23660549 )
2013
23
A case of bilateral tibial hemimelia type VIIa. ( 23901205 )
2013
24
Bilateral tibial hemimelia type 1 (1a and 1b) with T9 and T10 hemivertebrae: a novel association. ( 24141299 )
2013
25
Limb salvage in tibial hemimelia. ( 23326984 )
2012
26
Tibial hemimelia with separate soft-tissue cover of the tibia and fibula. ( 21705577 )
2011
27
Tibial hemimelia in Langer-Giedion syndrome with 8q23.1-q24.12 interstitial deletion. ( 21948702 )
2011
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
Tibial hemimelia in one of the identical twins. ( 20864864 )
2010
31
A rare variant of tibial hemimelia and its treatment. ( 19543118 )
2009
32
A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. ( 18493797 )
2008
33
New classification and score for tibial hemimelia. ( 19308574 )
2008
34
Bilateral tibial hemimelia I. ( 17031864 )
2007
35
Tibial hemimelia-split hand/foot syndrome with rare anomalies. ( 15767725 )
2005
36
Treatment of tibial hemimelia without amputation: preliminary report. ( 15931027 )
2005
37
Oligodontia associated with femoral bifurcation, tibial hemimelia and cleft hand. ( 15161558 )
2004
38
A pair of sibs with tibial hemimelia born to phenotypically normal parents. ( 12730719 )
2003
39
Femoral bifurcation associated with tibial hemimelia. ( 11332968 )
2001
40
Tibial hemimelia, meningocele, and abdominal hernia in Shorthorn cattle. ( 11055885 )
2000
41
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
42
Tibial hemimelia of a different class. ( 11008741 )
2000
43
Unilateral tibial hemimelia with leg length inequality and varus foot: external fixator treatment. ( 10395344 )
1999
44
Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q. ( 10398269 )
1999
45
Prenatal diagnosis of unilateral tibial hemimelia. ( 8705415 )
1996
46
Anatomic considerations of the foot and leg in tibial hemimelia. ( 8784695 )
1996
47
Tibial hemimelia and tetralogy of Fallot associated with first trimester exposure to amantadine. ( 8186630 )
1994
48
Tibial hemimelia syndrome: prenatal diagnosis by real-time ultrasound. ( 8052563 )
1994
49
Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: severe expression of the acrocallosal syndrome? ( 8357003 )
1993
50
Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia. ( 1789289 )
1991

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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