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Gollop-Wolfgang complex(GWC)

MedGen UID:
341622
Concept ID:
C1856789
Disease or Syndrome
Synonyms: Femur bifid with monodactylous ectrodactyly; FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY
SNOMED CT: Bifid femur co-occurrent with monodactylous ectrodactyly (716006003); Gollop Wolfgang complex (716006003); Bifid femur with monodactylous ectrodactyly (716006003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0009222
OMIM®: 228250
Orphanet: ORPHA1986

Definition

A very rare malformation with main features of ectrodactyly of the hand and ipsilateral bifurcation of the femur. Approximately 200 cases have been reported worldwide. Congenital aplasia/hypoplasia of the tibia, accompanied by pre-axial oligodactyly or monodactyly of the feet, may also be present. In most cases, the bifurcation of the distal femur is unilateral. Patients are often small. Autosomal dominant and autosomal recessive modes of transmission have been suggested. [from SNOMEDCT_US]

Clinical features

From HPO
Aplasia of the ulna
MedGen UID:
394508
Concept ID:
C2678397
Finding
Missing ulna bone associated with congenital failure of development.
Split hand
MedGen UID:
397570
Concept ID:
C2699510
Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Absent tibia
MedGen UID:
478374
Concept ID:
C3276744
Finding
Absence of the tibia.
Foot monodactyly
MedGen UID:
867513
Concept ID:
C4021896
Anatomical Abnormality
Bifid femur
MedGen UID:
869397
Concept ID:
C4023824
Anatomical Abnormality
A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.
Hand monodactyly
MedGen UID:
870952
Concept ID:
C4025415
Congenital Abnormality

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGollop-Wolfgang complex
Follow this link to review classifications for Gollop-Wolfgang complex in Orphanet.

Recent clinical studies

Etiology

Wada A, Nakamura T, Fujii T, Urano N, Yanagida H, Takamura K, Taketa M, Oketani Y, Kubota H
J Pediatr Orthop B 2013 Sep;22(5):457-63. doi: 10.1097/BPB.0b013e3283620640. PMID: 23660549
Alessandri JL, Isidor B, David A, Martin-Coignard D, Ghazouani J, Ramful D, Laville JM, Le Caignec C
Am J Med Genet A 2010 Nov;152A(11):2805-9. doi: 10.1002/ajmg.a.33633. PMID: 20949521
Bos CF, Taminiau AH
J Pediatr Orthop B 2007 Nov;16(6):409-13. doi: 10.1097/BPB.0b013e3282f057f3. PMID: 17909338
Evans JA, Chudley AE
Am J Med Genet 1999 Jul 2;85(1):13-9. doi: 10.1002/(sici)1096-8628(19990702)85:1<13::aid-ajmg5>3.0.co;2-n. PMID: 10377008

Diagnosis

Ondari J, Kinyanjui J, Miano P, Sang E, Oburu E, Maru M
Pan Afr Med J 2018;30:99. Epub 2018 Jun 5 doi: 10.11604/pamj.2018.30.99.11969. PMID: 30344883Free PMC Article
Wada A, Nakamura T, Fujii T, Urano N, Yanagida H, Takamura K, Taketa M, Oketani Y, Kubota H
J Pediatr Orthop B 2013 Sep;22(5):457-63. doi: 10.1097/BPB.0b013e3283620640. PMID: 23660549
Ugras AA, Sungur I, Akyildiz MF, Ercin E
Orthopedics 2010 Feb;33(2):124-6. doi: 10.3928/01477447-20100104-30. PMID: 20192156
Mendilcioglu I, Mihci E, Pestereli E, Simsek M
Prenat Diagn 2009 Feb;29(2):182-6. doi: 10.1002/pd.2204. PMID: 19180625

Therapy

Alessandri JL, Isidor B, David A, Martin-Coignard D, Ghazouani J, Ramful D, Laville JM, Le Caignec C
Am J Med Genet A 2010 Nov;152A(11):2805-9. doi: 10.1002/ajmg.a.33633. PMID: 20949521

Prognosis

Wada A, Nakamura T, Fujii T, Urano N, Yanagida H, Takamura K, Taketa M, Oketani Y, Kubota H
J Pediatr Orthop B 2013 Sep;22(5):457-63. doi: 10.1097/BPB.0b013e3283620640. PMID: 23660549
Mendilcioglu I, Mihci E, Pestereli E, Simsek M
Prenat Diagn 2009 Feb;29(2):182-6. doi: 10.1002/pd.2204. PMID: 19180625
Bos CF, Taminiau AH
J Pediatr Orthop B 2007 Nov;16(6):409-13. doi: 10.1097/BPB.0b013e3282f057f3. PMID: 17909338

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