U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Clinodactyly of the 3rd toe

MedGen UID:
867197
Concept ID:
C4021555
Anatomical Abnormality
Synonyms: 3rd toe clinodactyly; Curvature of 3rd toe
 
HPO: HP:0008115

Definition

Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Clinodactyly of the 3rd toe

Conditions with this feature

COG8-congenital disorder of glycosylation
MedGen UID:
409971
Concept ID:
C1970021
Disease or Syndrome
Syndrome with characteristics of severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. So far, only two cases have been described. The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus.

Recent clinical studies

Etiology

Malik S, Afzal M, Gul S, Wahab A, Ahmad M
Am J Med Genet A 2010 Sep;152A(9):2313-7. doi: 10.1002/ajmg.a.33552. PMID: 20683984

Diagnosis

De Francesco S, Galluzzi P, Del Longo A, Piozzi E, Renieri A, Menicacci C, Mari F, Munier F, Hadjistilianou T, Mastrangelo D
Eur J Ophthalmol 2012 Sep-Oct;22(5):857-60. doi: 10.5301/ejo.5000151. PMID: 22505049
Malik S, Afzal M, Gul S, Wahab A, Ahmad M
Am J Med Genet A 2010 Sep;152A(9):2313-7. doi: 10.1002/ajmg.a.33552. PMID: 20683984
Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V
Am J Med Genet 2001 Jan 1;98(1):92-100. PMID: 11426460
James C, Jauch A, Robson L, Watson N, Smith A
J Med Genet 1996 Sep;33(9):795-7. doi: 10.1136/jmg.33.9.795. PMID: 8880586Free PMC Article

Prognosis

Malik S, Afzal M, Gul S, Wahab A, Ahmad M
Am J Med Genet A 2010 Sep;152A(9):2313-7. doi: 10.1002/ajmg.a.33552. PMID: 20683984

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...