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Dysplastic distal radial epiphyses

MedGen UID:
396299
Concept ID:
C1862131
Finding
HPO: HP:0005013

Definition

Abnormally developed (dysplastic) distal epiphysis of the radius. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDysplastic distal radial epiphyses

Conditions with this feature

Osebold-Remondini syndrome
MedGen UID:
350598
Concept ID:
C1862130
Disease or Syndrome
The Osebold-Remondini syndrome is a bone dysplasia with mesomelic shortness of limbs and, hence, shortness of stature, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, carpal and tarsal coalitions, and apparently no other anomalies (summary by Opitz and Gilbert, 1985). See 602875 for a discussion of genetic heterogeneity of autosomal recessive acromesomelic dysplasia.

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