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Short 3rd toe

MedGen UID:
Concept ID:
Anatomical Abnormality
Synonym: Short third toes
HPO: HP:0005643


Underdevelopment (hypoplasia) of the third toe. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort 3rd toe

Conditions with this feature

Triphalangeal thumbs-brachyectrodactyly syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
This syndrome has characteristics of triphalangeal thumbs and brachydactyly of the hands. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
MedGen UID:
Concept ID:
Disease or Syndrome
Neurodevelopmental disorder with absent language and variable seizures
MedGen UID:
Concept ID:
Disease or Syndrome
Mitochondrial complex 4 deficiency, nuclear type 16
MedGen UID:
Concept ID:
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 16 (MC4DN16) is an autosomal recessive metabolic disorder with highly variable manifestations. Common features include failure to thrive with poor overall growth, short stature, and microcephaly. Some patients additionally have neurologic involvement, including developmental regression with severe hypotonia, feeding difficulties, and seizures. Brain imaging in the more severely affected patients shows cerebral and cerebellar atrophy and abnormal lesions in the basal ganglia. In all cases, patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV (summary by Pillai et al., 2019). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.

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