GWC
MCID: FMR007
MIFTS: 13

Femur Bifid with Monodactylous Ectrodactyly (GWC)

Categories: Rare diseases

Aliases & Classifications for Femur Bifid with Monodactylous Ectrodactyly

MalaCards integrated aliases for Femur Bifid with Monodactylous Ectrodactyly:

Name: Femur Bifid with Monodactylous Ectrodactyly 52 71
Gollop-Wolfgang Complex 52
Gwc 52

Classifications:



External Ids:

UMLS 71 C1856789

Summaries for Femur Bifid with Monodactylous Ectrodactyly

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1986 Definition A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Epidemiology Approximately 200 cases have been reported worldwide. Clinical description The malformation presents with congenital aplasia/hypoplasia of the tibia, bifurcation of the distal femur, more commonly unilateral, accompanied by pre-axial oligodactyly or monodactyly of the feet. There is oligodactyly and ectrodactyly, often associated with an abnormality of the ulna. The pattern is frequently asymmetric. Occasionally other abnormalities can be present, namely congenital heart defects , cleft lip and palate and tracheo-oesophageal fistula. Etiology The etiology remains unknown. In two Japanese patients, a duplication and a triplication of a 210 Kb chromosomal segment in 17p13.3, including BHLHA9 , has been detected, and considered a susceptibility factor for the limb malformation. Diagnostic methods Diagnosis is based on clinical and radiological findings. Differential diagnosis Differential diagnoses includes hypoplastic tibiae-postaxial-polydactyly syndrome and split hand foot malformation syndromes. Antenatal diagnosis Prenatal diagnosis can be performed by ultrasound scans in the second trimester of pregnancy. Genetic counseling Whilst the pattern of inheritance is currently unknown, autosomal dominant and autosomal recessive inheritance models have been suggested. Management and treatment Patients should be offered orthopedic and reconstructive surgery (involving prosthetics) and regular monitoring. Prognosis Life expectancy is not reduced but, in the absence of treatment, the functional prognosis is poor. Visit the Orphanet disease page for more resources.

MalaCards based summary : Femur Bifid with Monodactylous Ectrodactyly, also known as gollop-wolfgang complex, is related to femur, unilateral bifid, with monodactylous ectrodactyly and split-hand/foot malformation 1. Affiliated tissues include heart and bone.

Related Diseases for Femur Bifid with Monodactylous Ectrodactyly

Graphical network of the top 20 diseases related to Femur Bifid with Monodactylous Ectrodactyly:



Diseases related to Femur Bifid with Monodactylous Ectrodactyly

Symptoms & Phenotypes for Femur Bifid with Monodactylous Ectrodactyly

Drugs & Therapeutics for Femur Bifid with Monodactylous Ectrodactyly

Search Clinical Trials , NIH Clinical Center for Femur Bifid with Monodactylous Ectrodactyly

Genetic Tests for Femur Bifid with Monodactylous Ectrodactyly

Anatomical Context for Femur Bifid with Monodactylous Ectrodactyly

MalaCards organs/tissues related to Femur Bifid with Monodactylous Ectrodactyly:

40
Heart, Bone

Publications for Femur Bifid with Monodactylous Ectrodactyly

Articles related to Femur Bifid with Monodactylous Ectrodactyly:

(show all 26)
# Title Authors PMID Year
1
Lower Extremity Surgical Treatment to Improve Function in a Patient with Gollop-Wolfgang Complex: A Case Report. 61
31211748 2019
2
Femoral bifurcation and bilateral tibial hemimelia: case report. 61
30344883 2018
3
Gollop-Wolfgang Complex. 61
28083505 2017
4
Gollop Wolfgang Complex: Can it be a Teratogenic Condition? 61
26922797 2016
5
Prenatal diagnosis of Gollop-Wolfgang complex. 61
25302853 2015
6
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex. 61
25351291 2014
7
Case Report: Gollop-Wolfgang Complex in a 5 month old baby. 61
26064472 2014
8
Limb salvage treatment for Gollop-Wolfgang complex (femoral bifurcation, complete tibial hemimelia, and hand ectrodactyly). 61
23660549 2013
9
Gollop-Wolfgang complex: an alternative to amputation. 61
23821979 2013
10
Tibial developmental field defect in valproic acid embryopathy: Report on three cases. 61
20949521 2010
11
[Gollop-Wolfgang Complex in a baby born to an epileptic mother treated with valproic acid during pregnancy]. 61
20471572 2010
12
[Gollop-Wolfgang complex and cloacal exstrophy, a strange association]. 61
20204225 2010
13
Tibial hemimelia and femoral bifurcation. 61
20192156 2010
14
Prenatal diagnosis of Gollop-Wolfgang Complex. 61
19353531 2009
15
Prenatal diagnosis of Gollop-Wolfgang complex (tibial agenesis and femoral bifurcation). 61
19180625 2009
16
A 5-year follow-up study after knee disarticulation in two cases of Gollop-Wolfgang complex. 61
17909338 2007
17
Tibial agenesis and Gollop-Wolfgang complex. 61
17853458 2007
18
Bifurcation of the femur with tibial agenesis and additional anomalies. 61
16100723 2005
19
Agenesis of tibia with bifid femur, congenital heart disease, and cleft lip with cleft palate or tracheoesophageal fistula: possible variants of Gollop-Wolfgang complex. 61
15732065 2005
20
A pair of sibs with tibial hemimelia born to phenotypically normal parents. 61
12730719 2003
21
Tibial agenesis, femoral duplication, and caudal midline anomalies. 61
10377008 1999
22
Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities. 61
10340652 1999
23
Bilateral involvement of hands and legs in the Gollop-Wolfgang complex. 61
9880223 1998
24
[Gollop-Wolfgang complex: tibial hemimelia associated with bifid femur and hypodactyly]. 61
7700619 1995
25
Tibial aplasia-ectrodactyly as variant expression of the Gollop-Wolfgang complex: report of a Brazilian family. 61
3688036 1987
26
Gollop-Wolfgang complex in a 3-month-old girl. 61
3146290 1986

Variations for Femur Bifid with Monodactylous Ectrodactyly

Expression for Femur Bifid with Monodactylous Ectrodactyly

Search GEO for disease gene expression data for Femur Bifid with Monodactylous Ectrodactyly.

Pathways for Femur Bifid with Monodactylous Ectrodactyly

GO Terms for Femur Bifid with Monodactylous Ectrodactyly

Sources for Femur Bifid with Monodactylous Ectrodactyly

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
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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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