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1-4 toe syndactyly

MedGen UID:
869299
Concept ID:
C4023725
Congenital Abnormality
Synonym: Webbed first through fourth toes
 
HPO: HP:0010712

Definition

Syndactyly with fusion of toes one to four. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV1-4 toe syndactyly

Conditions with this feature

Periventricular nodular heterotopia 7
MedGen UID:
934636
Concept ID:
C4310669
Disease or Syndrome
Periventricular nodular heterotopia-7 (PVNH7) is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see 300049.

Recent clinical studies

Diagnosis

Elliott AM, Gonzales M, Hoeffel JC, Le Merrer M, Maroteaux P, Encha-Razavi F, Joye N, Berchel C, Fliegel C, Aughton DJ, Beaudry-Rodgers K, Hasteh F, Nerlich AG, Wilcox WR, Rimoin DL, Lachman RS, Freisinger P
Am J Med Genet 2002 Apr 22;109(2):139-48. doi: 10.1002/ajmg.10324. PMID: 11977163

Prognosis

Elliott AM, Gonzales M, Hoeffel JC, Le Merrer M, Maroteaux P, Encha-Razavi F, Joye N, Berchel C, Fliegel C, Aughton DJ, Beaudry-Rodgers K, Hasteh F, Nerlich AG, Wilcox WR, Rimoin DL, Lachman RS, Freisinger P
Am J Med Genet 2002 Apr 22;109(2):139-48. doi: 10.1002/ajmg.10324. PMID: 11977163

Clinical prediction guides

Alessandri JL, Dagoneau N, Laville JM, Baruteau J, Hébert JC, Cormier-Daire V
Am J Med Genet A 2010 Apr;152A(4):982-6. doi: 10.1002/ajmg.a.33327. PMID: 20358613

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