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Proximal/middle symphalangism of 5th toe

MedGen UID:
Concept ID:
Anatomical Abnormality
Synonyms: Fused innermost and middle little toe bones; Fused innermost and middle pinkie toe bones; Fused innermost and middle pinky toe bones; Symphalangism of the middle and proximal phalanges of the 5th toe
HPO: HP:0100482


Bony fusion of the middle and proximal phalanges of the 5th toe. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProximal/middle symphalangism of 5th toe

Conditions with this feature

Symphalangism-brachydactyly syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. Other features include brachydactyly, hypoplastic or absent middle phalanges, radial head dislocation, and pectus carinatum (summary by Takahashi et al., 2001). Genetic Heterogeneity of Multiple Synostoses Syndrome Other forms of multiple synostoses syndrome include SYNS2 (610017), caused by mutation in the GDF5 gene (601146) on chromosome 20q11; SYNS3 (612961), caused by mutation in the FGF9 gene (600921) on chromosome 13q12; and SYNS4 (617898), caused by mutation in the GDF6 gene (601147) on chromosome 8q22.

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