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Thin proximal phalanges with broad epiphyses of the hand

MedGen UID:
892976
Concept ID:
C4025079
Anatomical Abnormality
Synonyms: Thin innermost bone with broad end part of the hand bone; Thin proximal phalanges with broad epiphyses
 
HPO: HP:0006213

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThin proximal phalanges with broad epiphyses of the hand

Conditions with this feature

Brachydactyly type A1
MedGen UID:
354673
Concept ID:
C1862151
Disease or Syndrome
A congenital malformation with apparent shortness (or absence) of the middle phalanges of all digits and occasional fusion with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Tendency to be of short stature in adulthood. Inherited as an autosomal dominant trait.

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