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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. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot). Additionally, some affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability.

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