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Rhizomelic leg shortening

MedGen UID:
868639
Concept ID:
C4023039
Anatomical Abnormality
HPO: HP:0012106

Definition

Disproportionate shortening of the proximal segment of the leg (i.e. the femur). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Rhizomelic leg shortening

Conditions with this feature

Spondyloperipheral dysplasia
MedGen UID:
163223
Concept ID:
C0796173
Disease or Syndrome
Spondyloperipheral dysplasia is a disorder that impairs bone growth. The signs and symptoms of this condition can vary among affected individuals. People with spondyloperipheral dysplasia typically have short stature, with a short torso, short arms and legs, and short fingers and toes (brachydactyly). These parts of the body are not proportional to one another (disproportionate short stature) in people with this condition. Affected individuals also tend to have flattened bones of the spine (platyspondyly) and inward- and upward-turning feet (clubfoot). Some people with spondyloperipheral dysplasia may also experience nearsightedness (myopia) or hearing loss.  

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