MCID: FBL005
MIFTS: 11

Fibular Aplasia

Categories: Rare diseases

Aliases & Classifications for Fibular Aplasia

MalaCards integrated aliases for Fibular Aplasia:

Name: Fibular Aplasia 49

Classifications:



Summaries for Fibular Aplasia

MalaCards based summary : Fibular Aplasia is related to fibular aplasia, tibial campomelia, and oligosyndactyly syndrome and fibular aplasia ectrodactyly. An important gene associated with Fibular Aplasia is AFF3 (AF4/FMR2 Family Member 3).

Related Diseases for Fibular Aplasia

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



Diseases related to Fibular Aplasia

Symptoms & Phenotypes for Fibular Aplasia

Drugs & Therapeutics for Fibular Aplasia

Search Clinical Trials , NIH Clinical Center for Fibular Aplasia

Genetic Tests for Fibular Aplasia

Anatomical Context for Fibular Aplasia

Publications for Fibular Aplasia

Articles related to Fibular Aplasia:

(show all 23)
# Title Authors Year
1
Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant. ( 28497002 )
2017
2
FATCO Syndrome (Fibular Aplasia, Tibial Campomelia, Oligosyndactyly with Talar Aplasia). A Case Study. ( 28436373 )
2017
3
EP10.05: Firs trimester diagnosis of bilateral fibular aplasia, tibial campomelia and pligosyndactyly (FACTO) syndrome: a case report. ( 27645721 )
2016
4
Fibular aplasia, tibial campomelia, and oligosyndactyly: a further patient with a 2-year follow-up. ( 25144151 )
2014
5
A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature. ( 21965580 )
2012
6
FATCO syndrome--fibular aplasia, tibial campomelia and oligosyndactyly. ( 20947407 )
2011
7
A male newborn infant with fatco syndrome (fibular aplasia, tibial campomelia and oligodactyly): a case report. ( 20964118 )
2010
8
Fibular aplasia in a child exposed to sodium valproate in pregnancy. ( 19050403 )
2009
9
A Japanese male patient with 'fibular aplasia, tibial campomelia and oligodactyly': an additional case report. ( 23926365 )
2009
10
Bilateral spigelian hernia concomitant with multiple skeletal anomalies and fibular aplasia in a child. ( 18493901 )
2008
11
Ectrodactyly with fibular aplasia: a separate entity? ( 18547886 )
2008
12
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. ( 18616733 )
2008
13
Fibular aplasia with ectrodactyly--broadening the clinical spectrum. ( 16473314 )
2006
14
Response to "Letter: Fibular aplasia, tibial campomelia and oligosyndactyly" by Evans and Elliott. ( 16652359 )
2006
15
Fibular aplasia, tibial campomelia, and oligosyndactyly in a male newborn infant: a case report and review of the literature. ( 15754355 )
2005
16
Light microscopic, immunohistochemical, and ultrastructural findings in congenital fibular aplasia or hypoplasia (FAH). ( 16211453 )
2005
17
Fibular aplasia with ectrodactyly. ( 12400066 )
2002
18
Malleolus externus plasty for joint reconstruction in fibular aplasia: preliminary report of a new technique. ( 12089506 )
2002
19
Discordant fibular aplasia in twins. ( 7717423 )
1995
20
Oral-facial-digital syndrome with fibular aplasia: a new variant. ( 8261648 )
1993
21
Ectrodactyly fibular aplasia. ( 8125599 )
1993
22
Monozygotic twins discordant for fibular aplasia. ( 1663703 )
1991
23
Fibular aplasia. Early surgical correction in two cases. ( 1743837 )
1991

Variations for Fibular Aplasia

Expression for Fibular Aplasia

Search GEO for disease gene expression data for Fibular Aplasia.

Pathways for Fibular Aplasia

GO Terms for Fibular Aplasia

Sources for Fibular Aplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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