MCID: CNG529
MIFTS: 16

Congenital Femoral Deficiency

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Congenital Femoral Deficiency

MalaCards integrated aliases for Congenital Femoral Deficiency:

Name: Congenital Femoral Deficiency 52
Proximal Femoral Focal Deficiency 52
Congenital Short Femur 52

Classifications:



Summaries for Congenital Femoral Deficiency

NIH Rare Diseases : 52 Congenital femoral deficiency (CFD) refers to a spectrum of congenital (present at birth) malformations of the thigh bone (femur ) due to incomplete or abnormal development. CFD may affect one leg (most commonly) or both legs. Severity can range from minor shortening of the femur (appearing normal), to complete absence of much or all of the femur. Deficiency or instability of the hip and knee joint often are also present and effect treatment options for each person. Various systems for classifying CFD have been proposed. Some experts classify CFD according to radiological appearance, while others classify CFD according to factors that affect options for treatment. The underlying cause of CFD typically is not known, but it does not appear to be inherited . Researchers suspect it is caused by a disruption during early prenatal development, which may occur randomly or as a result of an environmental factor such as infection or trauma. Taking the drug thalidomide during pregnancy can cause CFD and other limb deficiencies in an unborn child. Management of CFD requires a multidisciplinary team of specialists, which may include a pediatric orthopedic surgeon, prosthetist, and physical therapist . The main goal of treatment is to maximize function and mobility. Due to the range of severity and potential abnormalities affecting other bones or joints, there is no single treatment approach that applies to all cases. However, almost all people with CFD will need some combination of non-surgical, surgical, and orthotic treatment. Examples of possible surgical treatment options include reconstruction and limb-lengthening in those with reconstructable hip and knee joints, and amputation and/or rotationplasty for use of a prosthesis .

MalaCards based summary : Congenital Femoral Deficiency, also known as proximal femoral focal deficiency, is related to femoral agenesis/hypoplasia and femur-fibula-ulna syndrome. Affiliated tissues include bone and brain.

Wikipedia : 74 Proximal femoral focal deficiency (PFFD), also known as Congenital Femoral Deficiency (CFD), is a rare,... more...

Related Diseases for Congenital Femoral Deficiency

Diseases related to Congenital Femoral Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 femoral agenesis/hypoplasia 11.8
2 femur-fibula-ulna syndrome 11.5
3 fibular hemimelia 10.2
4 hemimelia 10.2
5 coxa vara 10.0
6 cleft palate, isolated 10.0
7 hirschsprung disease 1 10.0
8 legg-calve-perthes disease 10.0
9 split-hand/foot malformation 1 10.0
10 acrocallosal syndrome 10.0
11 polydactyly 10.0
12 antley-bixler syndrome 10.0
13 hypospadias 10.0
14 hydronephrosis 10.0
15 clubfoot 10.0
16 synostosis 10.0
17 skeletal dysplasias 10.0
18 anoxia 10.0
19 isolated split hand-split foot malformation 10.0
20 hip subluxation 9.9
21 methylmalonic acidemia 9.9
22 osteoarthritis 9.9
23 arthritis 9.9
24 parkes weber syndrome 9.9
25 weber syndrome 9.9
26 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome 9.8
27 idiopathic avascular necrosis 9.8
28 avascular necrosis 9.8

Graphical network of the top 20 diseases related to Congenital Femoral Deficiency:



Diseases related to Congenital Femoral Deficiency

Symptoms & Phenotypes for Congenital Femoral Deficiency

Drugs & Therapeutics for Congenital Femoral Deficiency

Search Clinical Trials , NIH Clinical Center for Congenital Femoral Deficiency

Genetic Tests for Congenital Femoral Deficiency

Anatomical Context for Congenital Femoral Deficiency

MalaCards organs/tissues related to Congenital Femoral Deficiency:

40
Bone, Brain

Publications for Congenital Femoral Deficiency

Articles related to Congenital Femoral Deficiency:

(show top 50) (show all 117)
# Title Authors PMID Year
1
Proximal femoral focal deficiency - a rare congenital entity: two case reports and a review of the literature. 61
32019581 2020
2
Outcomes of knee arthrodesis in proximal femoral focal deficiency. 61
31895293 2019
3
Midterm follow-up of total hip arthroplasty in a patient with contralateral Van Nes rotationplasty for congenital proximal femoral focal deficiency. 61
31886381 2019
4
Lengthening With Monolateral External Fixation Versus Magnetically Motorized Intramedullary Nail in Congenital Femoral Deficiency. 61
31503231 2019
5
Upper Limb Meromelia with Oligodactyly and Brachymesophalangy of the Foot: An Unusual Association. 61
31341693 2019
6
Outcomes and subjective assessment of rotation-plasty in patients with proximal femoral focal deficiency. 61
29851714 2018
7
Fetal ultrasound: Early diagnosis and natural evolution of proximal femoral focal deficiency. 61
29375906 2017
8
Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology. 61
28990185 2017
9
Osseointegration as Treatment for a Knee Disarticulation Because of a Congenital Femoral Deficiency: A Case Report. 61
29286960 2017
10
Prophylactic Intramedullary Rodding Following Femoral Lengthening in Congenital Deficiency of the Femur. 61
26650581 2017
11
Proximal femoral focal deficiency associated with fibular duplication and diplopodia and complete agenesis of the tibia: a case report. 61
27782934 2017
12
Trochanteric Entry for Femoral Lengthening Nails in Children: Is It Safe? 61
28481811 2017
13
Lengthening With Monolateral External Fixation Versus Magnetically Motorized Intramedullary Nail in Congenital Femoral Deficiency. 61
28746061 2017
14
Unilateral Isolated Proximal Femoral Focal Deficiency. 61
30787784 2017
15
A Rare Case of Congenital Tibiofemoral Fusion with Bilateral Proximal Femoral Focal Deficiency: A Case Report. 61
29244662 2017
16
Avascular Necrosis in the Contralateral Hip in Patients With Congenital Femoral Deficiency: A Report of 3 Cases. 61
26600294 2017
17
Hip stability during lengthening in children with congenital femoral deficiency. 61
27678508 2016
18
Double intertrochanteric osteotomy for trochanteric overgrowth and a short femoral neck in adolescents. 61
28031513 2016
19
Proximal femoral focal deficiency of the fetus - early 3D/4D prenatal ultrasound diagnosis. 61
27622419 2016
20
Lengthening With External Fixation Is Effective in Congenital Femoral Deficiency. 61
26194561 2015
21
Lengthening in Congenital Femoral Deficiency: A Comparison of Circular External Fixation and a Motorized Intramedullary Nail. 61
26333739 2015
22
Internal lengthening device for congenital femoral deficiency and fibular hemimelia. 61
24664194 2014
23
Prenatal diagnosis of congenital femoral deficiency and fibular hemimelia. 61
24764248 2014
24
Long-term follow-up of thalidomide embryopathy: malformations and development of osteoarthritis in the lower extremities and evaluation of upper extremity function. 61
25301261 2014
25
[Esthetic and functional improvement in proximal femoral focal deficiency with lacking hip joint by rotation plasty Winkelmann type BIII]. 61
24658883 2014
26
Proximal femoral focal deficiency revisited: a case report. 61
25935972 2014
27
Management of congenital femoral deficiency. 61
24094457 2013
28
Prenatal diagnosis of proximal femoral focal deficiency: a case report and literature review. 61
23915863 2013
29
King's procedure for Aitken B/Paley 2a proximal femoral focal deficiency with 19-year follow-up--a case report. 61
23594245 2013
30
Management of proximal femoral focal deficiency with limited resources in Haiti. 61
22661340 2013
31
Exceptional functional recovery and return to high-impact sports after Van Nes rotationplasty. 61
23276345 2013
32
Unilateral isolated proximal femoral focal deficiency. 61
23984135 2013
33
Perthes' disease and femoroacetabular impingement in a child with proximal femoral focal deficiency. 61
23148394 2012
34
Proximal femoral focal deficiency and fibular hemimelia associated with misoprostol use: a case report. 61
22922315 2012
35
Cruciate ligaments in proximal femoral focal deficiency: arthroscopic assessment. 61
22173383 2012
36
MR evaluation of femoral neck version and tibial torsion. 61
21842328 2012
37
Recurrence of axial malalignment after surgical correction in congenital femoral deficiency and fibular hemimelia. 61
21537976 2011
38
Prenatal diagnosis of unilateral proximal femoral focal deficiency at 19 weeks' gestation: case report and review of the literature. 61
21438051 2011
39
[Complications after femoral lengthening with ring fixators in congenital femoral deficiency]. 61
21375968 2011
40
Femoral nailing to treat fractures after lengthening for congenital femoral deficiency in young children. 61
20019622 2010
41
[Femoral fracture in congenital femoral deficiency. A therapeutic challenge?]. 61
19609775 2009
42
Computed tomographic angiography in proximal femoral focal deficiency. 61
19651955 2009
43
Proximal femoral focal deficiency (PFFD) in a young Doberman pinscher. 61
18811785 2008
44
Metal-on-metal total hip resurfacing arthroplasty in the presence of extra-articular deformities or implants. 61
18676936 2008
45
Acetabular changes in coxa vara. 61
18465187 2008
46
Prosthetic management 56 years after rotationplasty due to proximal femoral focal deficiency (PFFD). 61
17979017 2007
47
[Lengthening of proximal femoral focal deficiency using a hybrid fixation with inclusion of the knee joint]. 61
17443312 2007
48
Proximal femoral focal deficiency as a manifestation of Antley-Bixler syndrome: a case report. 61
17429125 2007
49
Value of magnetic resonance imaging in early assessment of proximal femoral focal deficiency (PFFD). 61
17274592 2006
50
A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies. 61
17290579 2006

Variations for Congenital Femoral Deficiency

Expression for Congenital Femoral Deficiency

Search GEO for disease gene expression data for Congenital Femoral Deficiency.

Pathways for Congenital Femoral Deficiency

GO Terms for Congenital Femoral Deficiency

Sources for Congenital Femoral Deficiency

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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