GWC
MCID: FMR017
MIFTS: 23

Femur, Unilateral Bifid, with Monodactylous Ectrodactyly (GWC)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Femur, Unilateral Bifid, with Monodactylous Ectrodactyly

MalaCards integrated aliases for Femur, Unilateral Bifid, with Monodactylous Ectrodactyly:

Name: Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 56
Gollop-Wolfgang Complex 56 58
Bifid Femur-Monodactylous Ectrodactyly Syndrome 58
Femur Bifid with Monodactylous Ectrodactyly 71
Gollop-Wolfgang Complex; Gwc 56
Gwc 56

Characteristics:

Orphanet epidemiological data:

58
gollop-wolfgang complex
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal; Age of death: any age;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
femur, unilateral bifid, with monodactylous ectrodactyly:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 228250
ICD10 via Orphanet 33 Q74.8
UMLS via Orphanet 72 C1856789
Orphanet 58 ORPHA1986
MedGen 41 C1856789
UMLS 71 C1856789

Summaries for Femur, Unilateral Bifid, with Monodactylous Ectrodactyly

MalaCards based summary : Femur, Unilateral Bifid, with Monodactylous Ectrodactyly, also known as gollop-wolfgang complex, is related to femur bifid with monodactylous ectrodactyly and split-hand/foot malformation 1. An important gene associated with Femur, Unilateral Bifid, with Monodactylous Ectrodactyly is BHLHA9 (Basic Helix-Loop-Helix Family Member A9). Affiliated tissues include bone and heart, and related phenotypes are bifid femur and ectrodactyly

More information from OMIM: 228250

Related Diseases for Femur, Unilateral Bifid, with Monodactylous Ectrodactyly

Diseases related to Femur, Unilateral Bifid, with Monodactylous Ectrodactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 femur bifid with monodactylous ectrodactyly 11.8
2 split-hand/foot malformation 1 10.8
3 isolated split hand-split foot malformation 10.8
4 tibial hemimelia 10.6
5 hemimelia 10.6
6 cleft palate, isolated 10.4
7 chromosome 2q35 duplication syndrome 10.4
8 tracheoesophageal fistula with or without esophageal atresia 10.4
9 anus, imperforate 10.4
10 polydactyly 10.4
11 chromosome 17p13.3, telomeric, duplication syndrome 10.4
12 lissencephaly 10.4
13 metabolic acidosis 10.4
14 omphalocele 10.4
15 cloacal exstrophy 10.4
16 split hand-foot malformation 10.4
17 cleft lip 10.4
18 skeletal dysplasias 10.4
19 abdominal wall defect 10.4
20 tibial aplasia-ectrodactyly syndrome 10.4
21 patent urachus 10.4

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



Diseases related to Femur, Unilateral Bifid, with Monodactylous Ectrodactyly

Symptoms & Phenotypes for Femur, Unilateral Bifid, with Monodactylous Ectrodactyly

Human phenotypes related to Femur, Unilateral Bifid, with Monodactylous Ectrodactyly:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bifid femur 58 31 hallmark (90%) Very frequent (99-80%) HP:0010443
2 ectrodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0100257
3 aplasia/hypoplasia of the tibia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005772
4 hand monodactyly 31 hallmark (90%) HP:0004058
5 aplasia/hypoplasia of the ulna 58 31 frequent (33%) Frequent (79-30%) HP:0006495
6 split hand 31 HP:0001171
7 absent tibia 31 HP:0009556
8 monodactyly (hands) 58 Very frequent (99-80%)
9 aplasia of the ulna 31 HP:0003982
10 foot monodactyly 31 HP:0200054

Symptoms via clinical synopsis from OMIM:

56
Skel:
absent ulna
absent tibia
ectrodactyly of hand
monodactyly of hand
monodactyly of feet
more

Clinical features from OMIM:

228250

Drugs & Therapeutics for Femur, Unilateral Bifid, with Monodactylous Ectrodactyly

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

Genetic Tests for Femur, Unilateral Bifid, with Monodactylous Ectrodactyly

Anatomical Context for Femur, Unilateral Bifid, with Monodactylous Ectrodactyly

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

40
Bone, Heart

Publications for Femur, Unilateral Bifid, with Monodactylous Ectrodactyly

Articles related to Femur, Unilateral Bifid, with Monodactylous Ectrodactyly:

(show all 31)
# Title Authors PMID Year
1
Tibial agenesis and Gollop-Wolfgang complex. 56 61
17853458 2007
2
Agenesis of tibia with bifid femur, congenital heart disease, and cleft lip with cleft palate or tracheoesophageal fistula: possible variants of Gollop-Wolfgang complex. 56 61
15732065 2005
3
Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities. 56 61
10340652 1999
4
Bilateral involvement of hands and legs in the Gollop-Wolfgang complex. 61 56
9880223 1998
5
Gollop-Wolfgang complex in a 3-month-old girl. 56 61
3146290 1986
6
Femoral bifurcation associated with tibial aplasia: about 3 cases. 56
20420023 2010
7
Proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies. 56
15103720 2004
8
Aplasia of the tibia with bifurcation of the femur and ectrodactyly: evidence for an autosomal recessive type. 56
2764026 1989
9
Complex congenital anomalies of the lower extremities: femoral bifurcation, tibial hemimelia, and diastasis of the ankle. Case report and review of the literature. 56
6699064 1984
10
Familial occurrence of bifid femur and monodactylous ectrodactyly. 56
7468656 1980
11
Lower Extremity Surgical Treatment to Improve Function in a Patient with Gollop-Wolfgang Complex: A Case Report. 61
31211748 2019
12
Femoral bifurcation and bilateral tibial hemimelia: case report. 61
30344883 2018
13
Gollop-Wolfgang Complex. 61
28083505 2017
14
Gollop Wolfgang Complex: Can it be a Teratogenic Condition? 61
26922797 2016
15
Prenatal diagnosis of Gollop-Wolfgang complex. 61
25302853 2015
16
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
17
Case Report: Gollop-Wolfgang Complex in a 5 month old baby. 61
26064472 2014
18
Limb salvage treatment for Gollop-Wolfgang complex (femoral bifurcation, complete tibial hemimelia, and hand ectrodactyly). 61
23660549 2013
19
Gollop-Wolfgang complex: an alternative to amputation. 61
23821979 2013
20
Tibial developmental field defect in valproic acid embryopathy: Report on three cases. 61
20949521 2010
21
[Gollop-Wolfgang Complex in a baby born to an epileptic mother treated with valproic acid during pregnancy]. 61
20471572 2010
22
[Gollop-Wolfgang complex and cloacal exstrophy, a strange association]. 61
20204225 2010
23
Tibial hemimelia and femoral bifurcation. 61
20192156 2010
24
Prenatal diagnosis of Gollop-Wolfgang Complex. 61
19353531 2009
25
Prenatal diagnosis of Gollop-Wolfgang complex (tibial agenesis and femoral bifurcation). 61
19180625 2009
26
A 5-year follow-up study after knee disarticulation in two cases of Gollop-Wolfgang complex. 61
17909338 2007
27
Bifurcation of the femur with tibial agenesis and additional anomalies. 61
16100723 2005
28
A pair of sibs with tibial hemimelia born to phenotypically normal parents. 61
12730719 2003
29
Tibial agenesis, femoral duplication, and caudal midline anomalies. 61
10377008 1999
30
[Gollop-Wolfgang complex: tibial hemimelia associated with bifid femur and hypodactyly]. 61
7700619 1995
31
Tibial aplasia-ectrodactyly as variant expression of the Gollop-Wolfgang complex: report of a Brazilian family. 61
3688036 1987

Variations for Femur, Unilateral Bifid, with Monodactylous Ectrodactyly

Expression for Femur, Unilateral Bifid, with Monodactylous Ectrodactyly

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

Pathways for Femur, Unilateral Bifid, with Monodactylous Ectrodactyly

GO Terms for Femur, Unilateral Bifid, with Monodactylous Ectrodactyly

Sources for Femur, Unilateral Bifid, with Monodactylous Ectrodactyly

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30 HMDB
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32 ICD10
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44 MESH via Orphanet
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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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