MCID: FBL014
MIFTS: 28

Fibular Hemimelia

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Fibular Hemimelia

MalaCards integrated aliases for Fibular Hemimelia:

Name: Fibular Hemimelia 20 58
Congenital Longitudinal Deficiency of the Fibula 20 58
Fibular Longitudinal Meromelia 20 58

Characteristics:

Orphanet epidemiological data:

58
fibular hemimelia
Prevalence: 1-9/100000 (Europe);

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Fibular Hemimelia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93323 Definition Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone. Epidemiology Prevalence is estimated at 1 in 50,000. A slight male preponderance has been reported in some studies, whereas other reports describe an equal sex distribution. Clinical description Unilateral involvement occurs in two-thirds of cases, with the right fibula being affected more often than the left. Agenesis of both fibulae is rare. Fibular hemimelia may vary from partial absence of the fibula (10% of cases) with relatively normal-appearing limbs, to absence of the fibula with marked shortening of the femur, curved tibia, bowing of the leg, knee joint and ankle instability and significant soft tissue deficiency. The major functional deficiency results from leg length discrepancy in unilateral cases or asymmetrical dwarfism in bilateral cases. The foot is generally in an equinovalgus position. As there is limited growing potential within the affected bone, the extent of the deformity tends to increase with growth. Occasionally, fibular hemimelia is associated with congenital shortening of the femur (femur-fibula-ulna complex; see this term). Other skeletal anomalies ( craniosynostosis, syndactyly, brachydactyly, oligodactyly and ectrodactyly) may also be present. Fibular hemimelia is also found in several generalized skeletal dysplasias and dysostoses. Rarely, fibular hemimelia is associated with nonskeletal malformations (eye abnormalities such as anterior chamber anomalies or anophthalmia, cardiac anomalies, renal dysplasia, thrombocytopenia, thoracoabdominal schisis, spina bifida and, rarely, intellectual deficit). Fibular hemimelia can be present in some chromosome anomalies. Etiology The etiology is unclear. The deformity is probably due to disruptions during the critical period of embryonic limb development, between 4th and 7th week of gestation. Vascular dysgenesis, viral infections, trauma and environmental influences have been suggested as possible causes. Diagnostic methods Diagnosis is based on clinical examination and X-rays. Differential diagnosis Differential diagnoses include amniotic band syndrome, thalidomide embryopathy and several skeletal dysplasias and dysostoses with asymmetrical involvement of the lower limbs such as femoral-facial syndrome (see these terms). Antenatal diagnosis Prenatal diagnosis of fibular hemimelia has been reported. Genetic counseling Most cases are sporadic. A family history has been reported in a small percentage of cases with an autosomal dominant pattern of inheritance and incomplete penetrance. Management and treatment Management requires a multidisciplinary approach ( genetic counselors, perinatologists and pediatric orthopedic surgeons). Orthopedic treatment aims at correcting the leg length discrepancy, and, in bilateral cases, correcting the asymmetrical dwarfism. In less severe cases with minimal hypoplasia of the fibula and only mild limb length discrepancy, special shoes and/or accommodative insoles may be used to equalize limb length. In some mild cases, epiphysiodesis on the contralateral (normal) side is also an option. In moderate limb length inequality, limb lengthening is an option but it carries the risk of requiring multiple reconstructive procedures and complications. Rarely, for cases of severe limb length discrepancy or complete absence of the fibula when the foot is nonfunctional, amputation with prosthetic fitting in early childhood may be considered. Prognosis Fibular deficiency is usually a benign condition, although in severe cases it can be debilitating. Acceptable functional results may be achieved by surgery. In case of syndromic presentation, prognosis depends on the nature of the associated anomalies.

MalaCards based summary : Fibular Hemimelia, also known as congenital longitudinal deficiency of the fibula, is related to hemimelia and congenital femoral deficiency. Affiliated tissues include eye, bone and heart, and related phenotypes are difficulty walking and genu valgum

Wikipedia : 73 Fibular hemimelia or longitudinal fibular deficiency is "the congenital absence of the fibula and it is... more...

Related Diseases for Fibular Hemimelia

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 hemimelia 11.0
2 congenital femoral deficiency 10.4
3 tarsal coalition 10.2
4 clubfoot 10.2
5 femoral agenesis/hypoplasia 10.2
6 femur-fibula-ulna syndrome 10.0
7 tibial hemimelia 10.0
8 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome 10.0
9 arthropathy 10.0
10 dwarfism 10.0
11 hip subluxation 10.0
12 trochlear dysplasia 10.0

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



Diseases related to Fibular Hemimelia

Symptoms & Phenotypes for Fibular Hemimelia

Human phenotypes related to Fibular Hemimelia:

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
2 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
3 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
4 lower limb asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0100559
5 limb undergrowth 58 31 frequent (33%) Frequent (79-30%) HP:0009826
6 tibial bowing 58 31 frequent (33%) Frequent (79-30%) HP:0002982
7 disproportionate prominence of the femoral medial condyle 58 31 frequent (33%) Frequent (79-30%) HP:0006437
8 short tibia 31 frequent (33%) HP:0005736
9 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
10 short toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0001831
11 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
12 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
13 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
14 fibular hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003038
15 talipes equinovalgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001772
16 abnormal bone ossification 58 31 occasional (7.5%) Occasional (29-5%) HP:0011849
17 short femur 58 31 occasional (7.5%) Occasional (29-5%) HP:0003097
18 hip subluxation 58 31 occasional (7.5%) Occasional (29-5%) HP:0030043
19 pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0012531
20 decreased hip abduction 58 31 occasional (7.5%) Occasional (29-5%) HP:0003184
21 arthralgia of the hip 58 31 occasional (7.5%) Occasional (29-5%) HP:0003365
22 structural foot deformity 58 31 occasional (7.5%) Occasional (29-5%) HP:0010219
23 limited knee flexion/extension 58 31 occasional (7.5%) Occasional (29-5%) HP:0005085
24 increased laxity of ankles 58 31 occasional (7.5%) Occasional (29-5%) HP:0006460
25 proximal femoral focal deficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0030772
26 impairment of activities of daily living 58 31 occasional (7.5%) Occasional (29-5%) HP:0031058
27 knee joint hypermobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0045086
28 intellectual disability 58 31 very rare (1%) Very rare (<4-1%) HP:0001249
29 thrombocytopenia 58 31 very rare (1%) Very rare (<4-1%) HP:0001873
30 anophthalmia 58 31 very rare (1%) Very rare (<4-1%) HP:0000528
31 spina bifida 58 31 very rare (1%) Very rare (<4-1%) HP:0002414
32 craniosynostosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001363
33 ectrodactyly 58 31 very rare (1%) Very rare (<4-1%) HP:0100257
34 abnormal heart morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0001627
35 fibular aplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0002990
36 foot oligodactyly 58 31 very rare (1%) Very rare (<4-1%) HP:0001849
37 renal dysplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0000110
38 abnormal anterior chamber morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0000593
39 hypoplastic acetabulae 58 31 very rare (1%) Very rare (<4-1%) HP:0003274
40 abnormal morphology of ulna 58 31 very rare (1%) Very rare (<4-1%) HP:0040071
41 thoracoabdominal wall defect 58 31 very rare (1%) Very rare (<4-1%) HP:0100656
42 abnormality of the eye 58 Very rare (<4-1%)
43 limitation of joint mobility 58 Occasional (29-5%)
44 oligodactyly 58 Occasional (29-5%)
45 abnormality of fibula morphology 58 Very frequent (99-80%)
46 bowing of the legs 58 Occasional (29-5%)
47 shortening of the tibia 58 Frequent (79-30%)
48 abnormal morphology of bones of the lower limbs 58 Frequent (79-30%)

Drugs & Therapeutics for Fibular Hemimelia

Search Clinical Trials , NIH Clinical Center for Fibular Hemimelia

Genetic Tests for Fibular Hemimelia

Anatomical Context for Fibular Hemimelia

MalaCards organs/tissues related to Fibular Hemimelia:

40
Eye, Bone, Heart

Publications for Fibular Hemimelia

Articles related to Fibular Hemimelia:

(show top 50) (show all 131)
# Title Authors PMID Year
1
Limb Lengthening for Congenital Deficiencies Using External Fixation Combined With Flexible Intramedullary Nailing: A Multicenter Study. 61
33782369 2021
2
Embryology of the Lower Limb Demonstrates That Congenital Absent Fibula Is a Radiologic Misnomer. 61
33773063 2021
3
Physical performance of children with longitudinal fibular deficiency (fibular hemimelia). 61
33331793 2020
4
Three-dimensional correction of fibular hemimelia using a computer-assisted planning : technical report and literature review. 61
33581021 2020
5
Association of upper limb meromelia, proximal focal femoral deficiency, fibular hemimelia, and intermetatarsal coalition in a young adult male. 61
32382373 2020
6
Isolated unilateral proximal focal femoral deficiency presenting in a young woman. 61
31969407 2020
7
Management of a Broken PRECICE Femoral Nail at an Ununited Distraction Osteogenesis Site: A Case Report. 61
32224648 2020
8
Use of Paley Classification and SUPERankle Procedure in the Management of Fibular Hemimelia. 61
31503232 2019
9
Lengthening With Monolateral External Fixation Versus Magnetically Motorized Intramedullary Nail in Congenital Femoral Deficiency. 61
31503231 2019
10
Fetal fibular hemimelia with focal femoral deficiency: A case report. 61
31673475 2019
11
Postaxial hypoplasia of the lower extremity (fibular hemimelia) presenting in a young adult male. 61
31236184 2019
12
Amputation Versus Staged Reconstruction for Severe Fibular Hemimelia: Assessment of Psychosocial and Quality-of-Life Status and Physical Functioning in Childhood. 61
31334463 2019
13
Longitudinal Fibular Deficiency: A Cross-Sectional Study Comparing Lower Limb Function of Children and Young People with That of Unaffected Peers. 61
30875935 2019
14
Hemiepiphysiodesis using tension band plates: does the initial screw angle influence the rate of correction? 61
30838077 2019
15
Hybrid ACL reconstruction in a 6-year-old female with fibular hemimelia. 61
30719315 2019
16
Lower-extremity growth patterns and skeletal maturation in children with unilateral fibular hemimelia. 61
30269159 2019
17
Upper Limb Meromelia with Oligodactyly and Brachymesophalangy of the Foot: An Unusual Association. 61
31341693 2019
18
Constant inhibition in congenital lower extremity shortening: does it begin in utero? 61
29797037 2018
19
The syndrome of proximal femur, fibula, and midline metatarsal long bone deficiencies. 61
30152124 2018
20
Ankle reconstruction and lengthening strategy in type II fibular hemimelia: a report of two cases. 61
30041040 2018
21
Anterior and posterior cruciate ligament agenesis. 61
30151108 2018
22
Bilateral fibular hemimelia associated with hip dislocation and femoral head necrosis. 61
29744100 2018
23
Spinal dysraphism and dislocated hip: Beware of anomalous sciatic nerve through Ilium, a case report. 61
29561460 2018
24
Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology. 61
28990185 2017
25
Ankle Reconstruction in Fibular Hemimelia: New Approach. 61
28690469 2017
26
FATCO Syndrome (Fibular Aplasia, Tibial Campomelia, Oligosyndactyly with Talar Aplasia). A Case Study. 61
28436373 2017
27
Surgical reconstruction for fibular hemimelia. 61
27909861 2016
28
Poster 477 Successful Prosthetic Rehabilitation of Fibular Hemimelia without Extensive Surgical Intervention: A Case Report. 61
27673220 2016
29
Foetal fibular hemimelia with focal femoral deficiency following prenatal misoprostol use: A case report. 61
26979810 2016
30
Clinical Results and Complications of Lower Limb Lengthening for Fibular Hemimelia: A Report of Eight Cases. 61
27227952 2016
31
A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) - A Case Report. 61
30151452 2016
32
Imaging features of lower limb malformations above the foot. 61
25920687 2015
33
Congenital Absence of the Anterior Cruciate Ligament. 61
26251945 2015
34
Reconstruction of the lateral malleolus in a type-Ib fibular hemimelia with a microvascular proximal fibular flap: a case report. 61
26035352 2015
35
Common Patterns of Congenital Lower Extremity Shortening: Diagnosis, Classification, and Follow-up. 61
26172360 2015
36
FIBULAR HEMIMELIA: A RARE CASE REPORT. 61
26677527 2015
37
Prevention of recurrence of tibia and ankle deformities after bone lengthening in children with type II fibular hemimelia. 61
25832175 2015
38
Massage therapy effects in a long-term prosthetic user with fibular hemimelia. 61
25892381 2015
39
'I stand corrected'. 61
30363589 2015
40
Simultaneous femoral and tibial lengthening in combined congenital complete fibular hemimelia and congenital short femur using Ilizarov ring external fixator. 61
25561754 2014
41
Internal lengthening device for congenital femoral deficiency and fibular hemimelia. 61
24664194 2014
42
Prenatal diagnosis of congenital femoral deficiency and fibular hemimelia. 61
24764248 2014
43
Prenatal diagnosis of type 1 fibular hemimelia. 61
27278036 2014
44
Management of fibular hemimelia using the Ilizarov method at Siriraj Hospital in Thailand. 61
25365889 2014
45
Internal derangement of the knee in fibular hemimelia: radiographic and MRI findings. 61
24685672 2014
46
ACL reconstruction in a teenage athlete with fibular hemimelia. 61
24238853 2014
47
Outcome of eight-plate hemiepiphysiodesis on genu valgum and height correction in bilateral fibular hemimelia. 61
24100933 2014
48
Fibular hemimelia - diagnostic management, principles, and results of treatment. 61
23807497 2013
49
Intermediate ray deficiency--a new type of lower limb hypoplasia. 61
22743795 2013
50
[Pirogoff amputation. Report of two cases and literature review]. 61
24712207 2012

Variations for Fibular Hemimelia

Expression for Fibular Hemimelia

Search GEO for disease gene expression data for Fibular Hemimelia.

Pathways for Fibular Hemimelia

GO Terms for Fibular Hemimelia

Sources for Fibular Hemimelia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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