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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Clinodactyly of the 3rd toe

Abnormality of limb bone
- Abnormal limb bone morphology
  - Abnormal digit morphology
    - Abnormal toe morphology
      - Deviation of toes
        Deviation of the 3rd toe
        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.

See: Condition Record

COG8-congenital disorder of glycosylation

Recent clinical studies

Etiology

A variant of uncertain significance of the HMGA2 gene in a child with Silver-Russell syndrome-like phenotype: a case report.

Bourousis E, Xatzipsalti M, Polychroni I, Kanavakis E, Stamoyannou L
Hormones (Athens) 2024 Sep;23(3):591-593. Epub 2024 May 24 doi: 10.1007/s42000-024-00562-x. PMID: 38789914

Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes.

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

See all (2)

Diagnosis

A variant of uncertain significance of the HMGA2 gene in a child with Silver-Russell syndrome-like phenotype: a case report.

Bourousis E, Xatzipsalti M, Polychroni I, Kanavakis E, Stamoyannou L
Hormones (Athens) 2024 Sep;23(3):591-593. Epub 2024 May 24 doi: 10.1007/s42000-024-00562-x. PMID: 38789914

13q deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins.

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

Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes.

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

Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.

Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V
Am J Med Genet 2001 Jan 1;98(1):92-100. PMID: 11426460

A 3 1/2 year old girl with distal trisomy 19q defined by FISH.

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: 8880586 Free PMC Article

See all (5)