Congenital Femoral Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CNG529 MIFTS: 15	Congenital Femoral Deficiency Categories: Bone diseases, Rare diseases
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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

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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...

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Related Diseases for Congenital Femoral Deficiency

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

(show all 27)

#	Related Disease	Score
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	arthritis	9.9
23	parkes weber syndrome	9.9
24	weber syndrome	9.9
25	amelia, posterior, with pelvic and pulmonary hypoplasia syndrome	9.8
26	idiopathic avascular necrosis	9.8
27	avascular necrosis	9.8

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

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Symptoms & Phenotypes for Congenital Femoral Deficiency

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Drugs & Therapeutics for Congenital Femoral Deficiency

Search Clinical Trials , NIH Clinical Center for Congenital Femoral Deficiency

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Genetic Tests for Congenital Femoral Deficiency

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Anatomical Context for Congenital Femoral Deficiency

MalaCards organs/tissues related to Congenital Femoral Deficiency:

⁴⁰

Bone, Brain

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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	Uduma FU...Njeze NR	32019581	2020
2	Midterm follow-up of total hip arthroplasty in a patient with contralateral Van Nes rotationplasty for congenital proximal femoral focal deficiency. ⁶¹	Connors GP...Bono JV	31886381	2019
3	Outcomes of knee arthrodesis in proximal femoral focal deficiency. ⁶¹	Westberry DE...Lee M	31895293	2019
4	Lengthening With Monolateral External Fixation Versus Magnetically Motorized Intramedullary Nail in Congenital Femoral Deficiency. ⁶¹	Szymczuk VL...Herzenberg JE	31503231	2019
5	Upper Limb Meromelia with Oligodactyly and Brachymesophalangy of the Foot: An Unusual Association. ⁶¹	Ozdemir M...Eraslan O	31341693	2019
6	Outcomes and subjective assessment of rotation-plasty in patients with proximal femoral focal deficiency. ⁶¹	Kowalczyk B...Kuznik-Buziewicz A	29851714	2018
7	Fetal ultrasound: Early diagnosis and natural evolution of proximal femoral focal deficiency. ⁶¹	Gerscovich EO...Greenspan A	29375906	2017
8	Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology. ⁶¹	Zhang Z...Chen D	28990185	2017
9	Osseointegration as Treatment for a Knee Disarticulation Because of a Congenital Femoral Deficiency: A Case Report. ⁶¹	Mills N...Al Muderis M	29286960	2017
10	Prophylactic Intramedullary Rodding Following Femoral Lengthening in Congenital Deficiency of the Femur. ⁶¹	Abdelgawad AA...Herzenberg JE	26650581	2017
11	Proximal femoral focal deficiency associated with fibular duplication and diplopodia and complete agenesis of the tibia: a case report. ⁶¹	Chawathe VS...Gupta S	27782934	2017
12	Trochanteric Entry for Femoral Lengthening Nails in Children: Is It Safe? ⁶¹	Hammouda AI...Herzenberg JE	28481811	2017
13	Lengthening With Monolateral External Fixation Versus Magnetically Motorized Intramedullary Nail in Congenital Femoral Deficiency. ⁶¹	Szymczuk VL...Herzenberg JE	28746061	2017
14	Unilateral Isolated Proximal Femoral Focal Deficiency. ⁶¹	Singh AP...Gupta AK	30787784	2017
15	A Rare Case of Congenital Tibiofemoral Fusion with Bilateral Proximal Femoral Focal Deficiency: A Case Report. ⁶¹	Imthiaz VK...Shah H	29244662	2017
16	Avascular Necrosis in the Contralateral Hip in Patients With Congenital Femoral Deficiency: A Report of 3 Cases. ⁶¹	Brown TS...Birch JG	26600294	2017
17	Hip stability during lengthening in children with congenital femoral deficiency. ⁶¹	Eidelman M...Herzenberg JE	27678508	2016
18	Double intertrochanteric osteotomy for trochanteric overgrowth and a short femoral neck in adolescents. ⁶¹	Akgul T...Polat G	28031513	2016
19	Proximal femoral focal deficiency of the fetus - early 3D/4D prenatal ultrasound diagnosis. ⁶¹	Kudla MJ...Partyka-Lasota J	27622419	2016
20	Lengthening With External Fixation Is Effective in Congenital Femoral Deficiency. ⁶¹	Prince DE...Paley D	26194561	2015
21	Lengthening in Congenital Femoral Deficiency: A Comparison of Circular External Fixation and a Motorized Intramedullary Nail. ⁶¹	Black SR...Jo CH	26333739	2015
22	Internal lengthening device for congenital femoral deficiency and fibular hemimelia. ⁶¹	Shabtai L...Herzenberg JE	24664194	2014
23	Long-term follow-up of thalidomide embryopathy: malformations and development of osteoarthritis in the lower extremities and evaluation of upper extremity function. ⁶¹	Ghassemi Jahani SA...Danielsson AJ	25301261	2014
24	Prenatal diagnosis of congenital femoral deficiency and fibular hemimelia. ⁶¹	Radler C...Herzenberg JE	24764248	2014
25	[Esthetic and functional improvement in proximal femoral focal deficiency with lacking hip joint by rotation plasty Winkelmann type BIII]. ⁶¹	Feusi AD...Exner GU	24658883	2014
26	Proximal femoral focal deficiency revisited: a case report. ⁶¹	Mehta S...Goel N	25935972	2014
27	Management of congenital femoral deficiency. ⁶¹	Monsell FP...Hughes R	24094457	2013
28	King's procedure for Aitken B/Paley 2a proximal femoral focal deficiency with 19-year follow-up--a case report. ⁶¹	Simpson-White RW...Bell MJ	23594245	2013
29	Prenatal diagnosis of proximal femoral focal deficiency: a case report and literature review. ⁶¹	Lin TH...Su YN	23915863	2013
30	Management of proximal femoral focal deficiency with limited resources in Haiti. ⁶¹	Lamberg EM...Alaniz MB	22661340	2013
31	Exceptional functional recovery and return to high-impact sports after Van Nes rotationplasty. ⁶¹	Harris JD...Mayerson JL	23276345	2013
32	Unilateral isolated proximal femoral focal deficiency. ⁶¹	Doger E...Yucesoy G	23984135	2013
33	Perthes' disease and femoroacetabular impingement in a child with proximal femoral focal deficiency. ⁶¹	Pun T...To M	23148394	2012
34	Proximal femoral focal deficiency and fibular hemimelia associated with misoprostol use: a case report. ⁶¹	Marchese JW...Doherty JH	22922315	2012
35	Cruciate ligaments in proximal femoral focal deficiency: arthroscopic assessment. ⁶¹	Chomiak J...Frydrychova M	22173383	2012
36	MR evaluation of femoral neck version and tibial torsion. ⁶¹	Koenig JK...Dwek JR	21842328	2012
37	Recurrence of axial malalignment after surgical correction in congenital femoral deficiency and fibular hemimelia. ⁶¹	Radler C...Grill F	21537976	2011
38	Prenatal diagnosis of unilateral proximal femoral focal deficiency at 19 weeks' gestation: case report and review of the literature. ⁶¹	Mailath-Pokorny M...Santos R	21438051	2011
39	[Complications after femoral lengthening with ring fixators in congenital femoral deficiency]. ⁶¹	Ganger R...Dungl P	21375968	2011
40	Femoral nailing to treat fractures after lengthening for congenital femoral deficiency in young children. ⁶¹	Herzenberg JE...Violante FH	20019622	2010
41	[Femoral fracture in congenital femoral deficiency. A therapeutic challenge?]. ⁶¹	Jungbluth P...Hakimi M	19609775	2009
42	Computed tomographic angiography in proximal femoral focal deficiency. ⁶¹	Chomiak J...Dungl P	19651955	2009
43	Proximal femoral focal deficiency (PFFD) in a young Doberman pinscher. ⁶¹	Salavati M	18811785	2008
44	Metal-on-metal total hip resurfacing arthroplasty in the presence of extra-articular deformities or implants. ⁶¹	Mont MA...Delanois RE	18676936	2008
45	Acetabular changes in coxa vara. ⁶¹	Ranade A...Davidson RS	18465187	2008
46	Prosthetic management 56 years after rotationplasty due to proximal femoral focal deficiency (PFFD). ⁶¹	Roux N...Pieters S	17979017	2007
47	[Lengthening of proximal femoral focal deficiency using a hybrid fixation with inclusion of the knee joint]. ⁶¹	Ramseier LE...Exner GU	17443312	2007
48	Proximal femoral focal deficiency as a manifestation of Antley-Bixler syndrome: a case report. ⁶¹	Sulaiman AR...Sallehudin AY	17429125	2007
49	Value of magnetic resonance imaging in early assessment of proximal femoral focal deficiency (PFFD). ⁶¹	Bernaerts A...Vanhoenacker F	17274592	2006
50	A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies. ⁶¹	Ergin H...Tufan AC	17290579	2006

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Genes for Congenital Femoral Deficiency

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Variations for Congenital Femoral Deficiency

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Expression for Congenital Femoral Deficiency

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

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Pathways for Congenital Femoral Deficiency

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GO Terms for Congenital Femoral Deficiency

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