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Mesoaxial foot polydactyly

MedGen UID:
Concept ID:
Congenital Abnormality
Synonym: Central polydactyly of feet
HPO: HP:0010112


The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMesoaxial foot polydactyly

Conditions with this feature

Pallister-Hall syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild GLI3-PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with GLI3-PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency.
Chromosome 1q21.1 deletion syndrome
MedGen UID:
Concept ID:
Congenital Abnormality
The 1q21.1 recurrent microdeletion itself does not appear to lead to a clinically recognizable syndrome as some persons with the deletion have no obvious clinical findings and others have variable findings that most commonly include microcephaly (50%), mild intellectual disability (30%), mildly dysmorphic facial features, and eye abnormalities (26%). Other findings can include cardiac defects, genitourinary anomalies, skeletal malformations, and seizures (~15%). Psychiatric and behavioral abnormalities can include autism spectrum disorders, attention deficit hyperactivity disorder, autistic features, and sleep disturbances.

Recent clinical studies


Phadke SR, Kar A, Bhowmik AD, Dalal A
Am J Med Genet A 2016 Jun;170(6):1622-5. Epub 2016 Apr 4 doi: 10.1002/ajmg.a.37643. PMID: 27041388
Sugiura Y, Lenz W
Am J Med Genet 1999 Apr 23;83(5):353-5. doi: 10.1002/(sici)1096-8628(19990423)83:5<353::aid-ajmg1>3.0.co;2-2. PMID: 10232741

Clinical prediction guides

Schaefer E, Lauer J, Durand M, Pelletier V, Obringer C, Claussmann A, Braun JJ, Redin C, Mathis C, Muller J, Schmidt-Mutter C, Flori E, Marion V, Stoetzel C, Dollfus H
Clin Genet 2014 May;85(5):476-81. Epub 2013 Jun 12 doi: 10.1111/cge.12198. PMID: 23692385

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